NCOA1 (nuclear receptor coactivator 1) - Rat Genome Database

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Advanced Search (OLGA)
Gene: NCOA1 (nuclear receptor coactivator 1) Homo sapiens
Analyze
Symbol: NCOA1
Name: nuclear receptor coactivator 1
RGD ID: 1319167
HGNC Page HGNC:7668
Description: Enables nuclear estrogen receptor binding activity and nuclear receptor coactivator activity. Involved in mRNA transcription by RNA polymerase II; nuclear receptor-mediated steroid hormone signaling pathway; and positive regulation of transcription from RNA polymerase II promoter by galactose. Acts upstream of or within positive regulation of DNA-templated transcription. Located in several cellular components, including chromatin; cytosol; and nucleoplasm. Part of RNA polymerase II transcription regulator complex. Biomarker of breast carcinoma; endometrial carcinoma; and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bHLHe42; bHLHe74; class E basic helix-loop-helix protein 74; F-SRC-1; Hin-2 protein; KAT13A; MGC129719; MGC129720; NCoA-1; PAX3/NCOA1 fusion protein; protein Hin-2; renal carcinoma antigen NY-REN-52; RIP160; SRC-1; SRC1; steroid receptor coactivator 1; steroid receptor coactivator-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38224,491,254 - 24,770,702 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl224,491,254 - 24,770,702 (+)EnsemblGRCh38hg38GRCh38
GRCh37224,714,123 - 24,993,571 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36224,660,850 - 24,847,075 (+)NCBINCBI36Build 36hg18NCBI36
Build 34224,718,996 - 24,905,219NCBI
Celera224,648,250 - 24,833,882 (+)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef224,545,896 - 24,731,418 (+)NCBIHuRef
CHM1_1224,736,919 - 24,923,129 (+)NCBICHM1_1
T2T-CHM13v2.0224,525,913 - 24,805,480 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,4,5-Tetrachloro-4'-biphenylol  (EXP)
2,3,4,7,8-Pentachlorodibenzofuran  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (EXP)
2,4-dinitrotoluene  (ISO)
2,8-bis-Trifluoromethyl-4-quinoline carboxylic acid  (EXP)
2-bromohexadecanoic acid  (EXP)
2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-1,2,4-triazol-3-one  (EXP)
2-hydroxypropanoic acid  (EXP)
3,3',5-triiodo-L-thyronine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
9-cis-retinoic acid  (EXP)
Acetyl tributyl citrate  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
alfacalcidol  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
androst-4-ene-3,17-dione  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
Benzo[ghi]perylene  (EXP)
beta-lapachone  (EXP)
bezafibrate  (EXP)
bicalutamide  (EXP)
biochanin A  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butamben  (EXP)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP,ISO)
camptothecin  (EXP)
carbon nanotube  (ISO)
chenodeoxycholic acid  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
ciglitazone  (EXP,ISO)
clemizole  (EXP)
clofibrate  (EXP,ISO)
clotrimazole  (EXP,ISO)
corticosterone  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
curcumin  (EXP)
cyclosporin A  (ISO)
cyproterone acetate  (EXP)
daidzein  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
diclofenac  (ISO)
Dicyclohexyl phthalate  (EXP)
diethylstilbestrol  (EXP)
diuron  (ISO)
doxorubicin  (EXP)
econazole  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
enzacamene  (ISO)
estrone  (EXP,ISO)
ethanol  (ISO)
flavonol  (EXP)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP,ISO)
galangin  (EXP,ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
guggulsterone  (ISO)
GW 4064  (EXP)
hexestrol  (EXP)
ibuprofen  (ISO)
irinotecan  (EXP)
isopimpinellin  (ISO)
isoxazoles  (EXP)
itraconazole  (EXP)
ketoconazole  (EXP)
lead(0)  (EXP)
linoleic acid  (EXP)
lipopolysaccharide  (ISO)
lithocholic acid  (EXP,ISO)
Meclizine  (EXP,ISO)
medroxyprogesterone acetate  (EXP)
melatonin  (EXP)
methapyrilene  (EXP)
methoxychlor  (EXP,ISO)
methylseleninic acid  (EXP)
methyltestosterone  (EXP)
miconazole  (EXP)
Mitotane  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
naphthalenes  (EXP)
Nonylphenol  (EXP)
omeprazole  (EXP)
ormeloxifene  (ISO)
oxaliplatin  (ISO)
oxiconazole  (EXP)
p-tert-Amylphenol  (EXP)
paclitaxel  (EXP)
Panaxytriol  (EXP)
paracetamol  (EXP,ISO)
paraformaldehyde macromolecule  (ISO)
pazopanib  (EXP)
permethrin  (EXP)
Phenoxybenzamine  (EXP)
phenytoin  (EXP)
phthalic acid  (EXP)
pimecrolimus  (EXP)
piperine  (EXP)
pirinixic acid  (EXP)
PK-11195  (EXP)
potassium chromate  (EXP)
progesterone  (EXP,ISO)
quercetin  (EXP)
quinolines  (EXP)
rac-lactic acid  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
rifampicin  (EXP)
sodium arsenite  (EXP,ISO)
tamoxifen  (EXP,ISO)
testosterone  (EXP)
thiram  (EXP)
topotecan  (ISO)
trimegestone  (EXP)
troglitazone  (EXP,ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vitamin D  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function
acyltransferase activity  (IEA)
chromatin binding  (IEA)
DNA binding  (IEA)
histone H2AK5 acetyltransferase activity  (IEA)
histone H2AK9 acetyltransferase activity  (IEA)
histone H2BK12 acetyltransferase activity  (IEA)
histone H2BK5 acetyltransferase activity  (IEA)
histone H3K122 acetyltransferase activity  (IEA)
histone H3K14 acetyltransferase activity  (IEA)
histone H3K18 acetyltransferase activity  (IEA)
histone H3K23 acetyltransferase activity  (IEA)
histone H3K27 acetyltransferase activity  (IEA)
histone H3K36 acetyltransferase activity  (IEA)
histone H3K4 acetyltransferase activity  (IEA)
histone H3K56 acetyltransferase activity  (IEA)
histone H3K9 acetyltransferase activity  (IEA)
histone H4K12 acetyltransferase activity  (IEA)
histone H4K16 acetyltransferase activity  (IEA)
histone H4K5 acetyltransferase activity  (IEA)
histone H4K8 acetyltransferase activity  (IEA)
nuclear estrogen receptor binding  (IEA,IPI,ISO)
nuclear receptor binding  (IBA,IDA,IEA,IPI,ISO)
nuclear retinoic acid receptor binding  (IEA,ISO)
nuclear retinoid X receptor binding  (IEA,ISO)
obsolete nuclear receptor coactivator activity  (IBA,IDA,IEA)
peptide-lysine-N-acetyltransferase activity  (IEA)
protein binding  (IPI)
protein dimerization activity  (IEA)
protein-containing complex binding  (IEA,ISO)
RNA polymerase II transcription regulatory region sequence-specific DNA binding  (IEA,ISO)
RNA polymerase II-specific DNA-binding transcription factor binding  (IEA)
transcription coactivator activity  (IDA,IEA,NAS)
transcription factor binding  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Androgen receptor coregulators and their involvement in the development and progression of prostate cancer. Chmelar R, etal., Int J Cancer. 2007 Feb 15;120(4):719-33.
2. The prognostic significance of steroid receptor co-regulators in breast cancer: co-repressor NCOR2/SMRT is an independent indicator of poor outcome. Green AR, etal., Breast Cancer Res Treat. 2007 Sep 28;.
3. Coregulators in nuclear estrogen receptor action: from concept to therapeutic targeting. Hall JM and McDonnell DP, Mol Interv. 2005 Dec;5(6):343-57.
4. Thyroid hormone exerts site-specific effects on SRC-1 and NCoR expression selectively in the neonatal rat brain. Iannacone EA, etal., Mol Cell Endocrinol. 2002 Jan 15;186(1):49-59.
5. Novel glucocorticoid receptor coactivator effector mechanisms. Jenkins BD, etal., Trends Endocrinol Metab. 2001 Apr;12(3):122-6.
6. Expression of estrogen receptor coregulators in normal and malignant human endometrium. Kershah SM, etal., Gynecol Oncol. 2004 Jan;92(1):304-13.
7. Expression of androgen receptor coregulators in prostate cancer. Linja MJ, etal., Clin Cancer Res. 2004 Feb 1;10(3):1032-40.
8. The human glucocorticoid receptor: molecular basis of biologic function. Nicolaides NC, etal., Steroids. 2010 Jan;75(1):1-12. Epub 2009 Oct 7.
9. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. Dynamic and combinatorial control of gene expression by nuclear retinoic acid receptors (RARs). Rochette-Egly C and Germain P, Nucl Recept Signal. 2009 May 8;7:e005.
13. Interactions of the mineralocorticoid receptor--within and without. Yang J and Fuller PJ, Mol Cell Endocrinol. 2012 Mar 24;350(2):196-205. doi: 10.1016/j.mce.2011.07.001. Epub 2011 Jul 18.
Additional References at PubMed
PMID:7481822   PMID:8616895   PMID:8754792   PMID:9041124   PMID:9121466   PMID:9171239   PMID:9192892   PMID:9192902   PMID:9223281   PMID:9223431   PMID:9259327   PMID:9296499  
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PMID:9751500   PMID:9751728   PMID:9773983   PMID:9774463   PMID:9782096   PMID:9786846   PMID:9804773   PMID:9812974   PMID:9832502   PMID:9849963   PMID:9874563   PMID:9878542  
PMID:10082574   PMID:10207113   PMID:10224118   PMID:10334992   PMID:10334993   PMID:10339548   PMID:10347167   PMID:10379889   PMID:10381882   PMID:10449719   PMID:10454563   PMID:10454579  
PMID:10497212   PMID:10508479   PMID:10517671   PMID:10551785   PMID:10558993   PMID:10567404   PMID:10567563   PMID:10594042   PMID:10598586   PMID:10652338   PMID:10659697   PMID:10660621  
PMID:10688660   PMID:10713182   PMID:10722692   PMID:10731636   PMID:10757795   PMID:10760302   PMID:10777539   PMID:10809226   PMID:10847592   PMID:10848596   PMID:10934189   PMID:10935544  
PMID:10935545   PMID:10938099   PMID:10973497   PMID:11003650   PMID:11014206   PMID:11027271   PMID:11050077   PMID:11069927   PMID:11075811   PMID:11076796   PMID:11113179   PMID:11117530  
PMID:11124027   PMID:11136553   PMID:11149488   PMID:11165056   PMID:11266503   PMID:11330046   PMID:11358671   PMID:11376110   PMID:11435616   PMID:11438648   PMID:11463834   PMID:11500849  
PMID:11514567   PMID:11574547   PMID:11682626   PMID:11689423   PMID:11696545   PMID:11698662   PMID:11704662   PMID:11713256   PMID:11773079   PMID:11818499   PMID:11831720   PMID:11864604  
PMID:11867769   PMID:11877444   PMID:11891224   PMID:11971985   PMID:12024042   PMID:12039952   PMID:12072427   PMID:12082103   PMID:12114525   PMID:12118039   PMID:12138096   PMID:12145209  
PMID:12163133   PMID:12163482   PMID:12163591   PMID:12189208   PMID:12208951   PMID:12403843   PMID:12403846   PMID:12477932   PMID:12482968   PMID:12482985   PMID:12529333   PMID:12554772  
PMID:12569182   PMID:12574227   PMID:12578355   PMID:12612084   PMID:12630920   PMID:12665583   PMID:12714702   PMID:12738788   PMID:12796488   PMID:12909012   PMID:12917342   PMID:12933903  
PMID:12954634   PMID:14601091   PMID:14684751   PMID:14698205   PMID:14715875   PMID:14722092   PMID:14757047   PMID:14985122   PMID:14993689   PMID:15001550   PMID:15026545   PMID:15140878  
PMID:15184363   PMID:15231721   PMID:15249124   PMID:15256534   PMID:15313887   PMID:15331348   PMID:15367689   PMID:15449938   PMID:15456935   PMID:15530426   PMID:15572376   PMID:15572661  
PMID:15604093   PMID:15615775   PMID:15641800   PMID:15661163   PMID:15688032   PMID:15695802   PMID:15774904   PMID:15788656   PMID:15831516   PMID:15862975   PMID:15888456   PMID:15919756  
PMID:15923603   PMID:16002533   PMID:16051665   PMID:16269961   PMID:16282588   PMID:16352595   PMID:16373399   PMID:16423881   PMID:16455805   PMID:16456540   PMID:16538531   PMID:16606617  
PMID:16723356   PMID:16728408   PMID:16775354   PMID:16860316   PMID:16882880   PMID:16923966   PMID:16930961   PMID:16957778   PMID:17011503   PMID:17135255   PMID:17254542   PMID:17312272  
PMID:17353003   PMID:17363140   PMID:17429319   PMID:17449869   PMID:17468099   PMID:17471507   PMID:17475621   PMID:17476305   PMID:17502350   PMID:17513608   PMID:17627277   PMID:17641689  
PMID:17673910   PMID:17704298   PMID:17786964   PMID:17919607   PMID:18096694   PMID:18267973   PMID:18284209   PMID:18391212   PMID:18511550   PMID:18563714   PMID:18660489   PMID:18798693  
PMID:18845648   PMID:19039327   PMID:19064572   PMID:19095746   PMID:19171678   PMID:19183483   PMID:19203349   PMID:19255064   PMID:19274049   PMID:19276281   PMID:19453261   PMID:19485965  
PMID:19596656   PMID:19706513   PMID:19763509   PMID:19786558   PMID:19913121   PMID:19934375   PMID:19953635   PMID:20003447   PMID:20145129   PMID:20184719   PMID:20203100   PMID:20338915  
PMID:20368990   PMID:20379614   PMID:20543827   PMID:20608937   PMID:20628086   PMID:20682316   PMID:20717101   PMID:21059860   PMID:21273440   PMID:21292004   PMID:21454491   PMID:21478865  
PMID:21757690   PMID:21760925   PMID:21873635   PMID:22070604   PMID:22072566   PMID:22142990   PMID:22174377   PMID:22328528   PMID:22371500   PMID:23160820   PMID:23178929   PMID:23602807  
PMID:23874500   PMID:23975195   PMID:24189439   PMID:24438340   PMID:24586072   PMID:24648347   PMID:24652666   PMID:24719557   PMID:24769444   PMID:24875297   PMID:25053412   PMID:25219498  
PMID:25261932   PMID:25962847   PMID:26066330   PMID:26186194   PMID:26203193   PMID:26267537   PMID:26287601   PMID:26371783   PMID:26469385   PMID:26487511   PMID:26920453   PMID:27239967  
PMID:27255895   PMID:27609421   PMID:27842582   PMID:28060733   PMID:28264017   PMID:28286232   PMID:28390937   PMID:28396297   PMID:28514442   PMID:28611094   PMID:29202468   PMID:29367763  
PMID:29395067   PMID:29507755   PMID:29717026   PMID:29987050   PMID:30275017   PMID:30595551   PMID:30658672   PMID:30813326   PMID:30973923   PMID:30979869   PMID:31182584   PMID:32187044  
PMID:32296183   PMID:32694731   PMID:32963012   PMID:33090636   PMID:33574497   PMID:33576087   PMID:33640491   PMID:33961781   PMID:34189442   PMID:34272753   PMID:35016035   PMID:35137184  
PMID:35140242   PMID:35271311   PMID:35418691   PMID:35439318   PMID:35785414   PMID:36129980   PMID:36613751   PMID:37402091   PMID:37689310   PMID:37704626   PMID:38297188   PMID:38360978  
PMID:38506084  


Genomics

Comparative Map Data
NCOA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38224,491,254 - 24,770,702 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl224,491,254 - 24,770,702 (+)EnsemblGRCh38hg38GRCh38
GRCh37224,714,123 - 24,993,571 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36224,660,850 - 24,847,075 (+)NCBINCBI36Build 36hg18NCBI36
Build 34224,718,996 - 24,905,219NCBI
Celera224,648,250 - 24,833,882 (+)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef224,545,896 - 24,731,418 (+)NCBIHuRef
CHM1_1224,736,919 - 24,923,129 (+)NCBICHM1_1
T2T-CHM13v2.0224,525,913 - 24,805,480 (+)NCBIT2T-CHM13v2.0
Ncoa1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39124,297,362 - 4,569,452 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl124,297,362 - 4,527,182 (-)EnsemblGRCm39 Ensembl
GRCm38124,247,362 - 4,477,206 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl124,247,362 - 4,477,182 (-)EnsemblGRCm38mm10GRCm38
MGSCv37124,247,362 - 4,484,060 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36124,257,424 - 4,491,127 (-)NCBIMGSCv36mm8
Celera124,179,857 - 4,348,692 (-)NCBICelera
Cytogenetic Map12A1.1NCBI
cM Map122.05NCBI
Ncoa1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8632,952,090 - 33,229,829 (-)NCBIGRCr8
mRatBN7.2627,232,609 - 27,507,992 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl627,232,611 - 27,475,664 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx627,524,867 - 27,768,734 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0627,840,748 - 28,084,625 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0627,318,440 - 27,562,032 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0628,677,563 - 28,931,844 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl628,677,540 - 28,931,843 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0638,483,476 - 38,734,322 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4627,224,396 - 27,473,926 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1627,229,075 - 27,336,790 (-)NCBI
Celera626,704,021 - 26,946,167 (-)NCBICelera
Cytogenetic Map6q14NCBI
Ncoa1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554696,794,821 - 6,892,566 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554696,676,780 - 6,892,587 (+)NCBIChiLan1.0ChiLan1.0
NCOA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212101,755,028 - 102,031,268 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A101,759,056 - 102,035,245 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A24,485,068 - 24,764,135 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A24,581,645 - 24,859,488 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A24,733,117 - 24,859,488 (+)Ensemblpanpan1.1panPan2
NCOA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11718,880,676 - 19,124,300 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1718,880,383 - 19,122,258 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1718,777,980 - 19,021,230 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01719,302,445 - 19,397,682 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1719,153,592 - 19,396,341 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11718,890,805 - 19,134,195 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01718,899,937 - 19,143,634 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01718,940,197 - 19,183,703 (+)NCBIUU_Cfam_GSD_1.0
Ncoa1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629263,234,427 - 63,471,108 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364937,368,462 - 7,465,615 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364937,368,393 - 7,605,754 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NCOA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3113,999,253 - 114,250,298 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13113,997,214 - 114,251,080 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23121,230,135 - 121,286,004 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.23121,349,942 - 121,379,022 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NCOA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11482,898,368 - 83,028,137 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1482,897,348 - 83,013,589 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604528,994,261 - 29,270,072 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ncoa1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247386,943,726 - 7,054,454 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247386,770,745 - 7,054,616 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NCOA1
180 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003743.4(NCOA1):c.-17-6312A>G single nucleotide variant Lung cancer [RCV000091979] Chr2:24652349 [GRCh38]
Chr2:24875218 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
NM_003743.4(NCOA1):c.637G>A (p.Glu213Lys) single nucleotide variant Malignant melanoma [RCV000065508] Chr2:24691585 [GRCh38]
Chr2:24914454 [GRCh37]
Chr2:24767958 [NCBI36]
Chr2:2p23.3		 not provided
NM_003743.4(NCOA1):c.1520C>T (p.Ser507Phe) single nucleotide variant Malignant melanoma [RCV000065509] Chr2:24706990 [GRCh38]
Chr2:24929859 [GRCh37]
Chr2:24783363 [NCBI36]
Chr2:2p23.3		 not provided
NM_003743.4(NCOA1):c.2217G>A (p.Lys739=) single nucleotide variant Malignant melanoma [RCV000065510] Chr2:24707687 [GRCh38]
Chr2:24930556 [GRCh37]
Chr2:24784060 [NCBI36]
Chr2:2p23.3		 not provided
NM_003743.4(NCOA1):c.3217C>T (p.Arg1073Trp) single nucleotide variant Malignant melanoma [RCV000060533] Chr2:24739447 [GRCh38]
Chr2:24962316 [GRCh37]
Chr2:24815820 [NCBI36]
Chr2:2p23.3		 not provided
NC_000002.12:g.24570853G>A single nucleotide variant Lung cancer [RCV000091978] Chr2:24570853 [GRCh38]
Chr2:24793722 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p23.3(chr2:24732367-24876531)x3 copy number gain See cases [RCV000141349] Chr2:24732367..24876531 [GRCh38]
Chr2:24955236..25099400 [GRCh37]
Chr2:24808740..24952904 [NCBI36]
Chr2:2p23.3		 uncertain significance
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2		 pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1 copy number loss not provided [RCV000509286] Chr2:24235780..25700427 [GRCh37]
Chr2:2p23.3		 not provided
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_003743.5(NCOA1):c.3371G>A (p.Arg1124Lys) single nucleotide variant not specified [RCV004315423] Chr2:24741851 [GRCh38]
Chr2:24964720 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2383A>G (p.Thr795Ala) single nucleotide variant NCOA1-related disorder [RCV004741479]|not specified [RCV004318155] Chr2:24707853 [GRCh38]
Chr2:24930722 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_003743.5(NCOA1):c.3661A>C (p.Ile1221Leu) single nucleotide variant not specified [RCV004318056] Chr2:24742141 [GRCh38]
Chr2:24965010 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4219C>A (p.Pro1407Thr) single nucleotide variant not specified [RCV004301597] Chr2:24768284 [GRCh38]
Chr2:24991153 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1205G>A (p.Arg402His) single nucleotide variant NCOA1-related disorder [RCV003410322]|not specified [RCV004292459] Chr2:24706675 [GRCh38]
Chr2:24929544 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1700A>G (p.Gln567Arg) single nucleotide variant NCOA1-related disorder [RCV004741478]|not specified [RCV004321301] Chr2:24707170 [GRCh38]
Chr2:24930039 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1130C>A (p.Thr377Asn) single nucleotide variant NCOA1-related disorder [RCV003410315]|not specified [RCV004281630] Chr2:24706600 [GRCh38]
Chr2:24929469 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:24315204-26384655)x3 copy number gain not provided [RCV000682143] Chr2:24315204..26384655 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3 copy number gain Seizure [RCV000677197] Chr2:24807000..25700000 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21		 pathogenic
NM_003743.5(NCOA1):c.237A>C (p.Leu79=) single nucleotide variant not provided [RCV000884471] Chr2:24665896 [GRCh38]
Chr2:24888765 [GRCh37]
Chr2:2p23.3		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_003743.5(NCOA1):c.3202T>C (p.Leu1068=) single nucleotide variant NCOA1-related disorder [RCV003983252]|not provided [RCV000893125] Chr2:24739432 [GRCh38]
Chr2:24962301 [GRCh37]
Chr2:2p23.3		 benign
GRCh37/hg19 2p23.3(chr2:24710112-25987357)x1 copy number loss not provided [RCV001005236] Chr2:24710112..25987357 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21		 likely pathogenic
NM_003743.5(NCOA1):c.484G>A (p.Val162Met) single nucleotide variant NCOA1-related disorder [RCV004741480]|not specified [RCV004326814] Chr2:24683080 [GRCh38]
Chr2:24905949 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1436C>T (p.Thr479Ile) single nucleotide variant not specified [RCV004298975] Chr2:24706906 [GRCh38]
Chr2:24929775 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_24443763)_(27746306_?)dup duplication Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001911738] Chr2:24443763..27746306 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_24443763)_(26029226_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003113869] Chr2:24443763..26029226 [GRCh37]
Chr2:2p23.3		 pathogenic
NC_000002.11:g.(?_24443763)_(29022169_?)dup duplication Tatton-Brown-Rahman overgrowth syndrome [RCV003113871]|not provided [RCV003113870] Chr2:24443763..29022169 [GRCh37]
Chr2:2p23.3-23.2		 uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_24443763)_(30143525_?)dup duplication not provided [RCV003113441] Chr2:24443763..30143525 [GRCh37]
Chr2:2p23.3-23.1		 uncertain significance
GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1 copy number loss 2p24.1p23.3 microdeletion syndrome [RCV002247168] Chr2:22439520..25608211 [GRCh37]
Chr2:2p24.1-23.3		 pathogenic|likely pathogenic
GRCh37/hg19 2p23.3(chr2:24641638-26473160)x1 copy number loss Tatton-Brown-Rahman overgrowth syndrome [RCV002276513] Chr2:24641638..26473160 [GRCh37]
Chr2:2p23.3		 not provided
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2p23.3(chr2:24653863-25574264)x1 copy number loss not provided [RCV002265531] Chr2:24653863..25574264 [GRCh37]
Chr2:2p23.3		 not provided
NM_003743.5(NCOA1):c.2357C>G (p.Thr786Arg) single nucleotide variant not specified [RCV004327396] Chr2:24707827 [GRCh38]
Chr2:24930696 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_003743.5(NCOA1):c.2713G>A (p.Glu905Lys) single nucleotide variant not specified [RCV004100826] Chr2:24726702 [GRCh38]
Chr2:24949571 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3641G>A (p.Gly1214Glu) single nucleotide variant not specified [RCV004113695] Chr2:24742121 [GRCh38]
Chr2:24964990 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1280A>C (p.His427Pro) single nucleotide variant NCOA1-related disorder [RCV004741425]|not specified [RCV004113551] Chr2:24706750 [GRCh38]
Chr2:24929619 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1129A>C (p.Thr377Pro) single nucleotide variant not specified [RCV004136184] Chr2:24706599 [GRCh38]
Chr2:24929468 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3473G>T (p.Arg1158Leu) single nucleotide variant not specified [RCV004218411] Chr2:24741953 [GRCh38]
Chr2:24964822 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2659G>A (p.Asp887Asn) single nucleotide variant NCOA1-related disorder [RCV003963793]|not specified [RCV004245651] Chr2:24726648 [GRCh38]
Chr2:24949517 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3806A>G (p.Gln1269Arg) single nucleotide variant NCOA1-related disorder [RCV004741427]|not specified [RCV004111826] Chr2:24752081 [GRCh38]
Chr2:24974950 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3688T>C (p.Phe1230Leu) single nucleotide variant not specified [RCV004128609] Chr2:24742168 [GRCh38]
Chr2:24965037 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2191A>G (p.Ile731Val) single nucleotide variant not specified [RCV004132699] Chr2:24707661 [GRCh38]
Chr2:24930530 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2056C>T (p.Arg686Trp) single nucleotide variant not specified [RCV004100384] Chr2:24707526 [GRCh38]
Chr2:24930395 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.925T>A (p.Tyr309Asn) single nucleotide variant not specified [RCV004177729] Chr2:24697774 [GRCh38]
Chr2:24920643 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1603A>G (p.Asn535Asp) single nucleotide variant NCOA1-related disorder [RCV004741430]|not specified [RCV004131826] Chr2:24707073 [GRCh38]
Chr2:24929942 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1880C>T (p.Ser627Phe) single nucleotide variant not specified [RCV004166470] Chr2:24707350 [GRCh38]
Chr2:24930219 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2453T>C (p.Leu818Pro) single nucleotide variant not specified [RCV004233516] Chr2:24710965 [GRCh38]
Chr2:24933834 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1435A>G (p.Thr479Ala) single nucleotide variant not specified [RCV004192971] Chr2:24706905 [GRCh38]
Chr2:24929774 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2428G>A (p.Asp810Asn) single nucleotide variant NCOA1-related disorder [RCV003420516]|not specified [RCV004229837] Chr2:24710940 [GRCh38]
Chr2:24933809 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1117C>T (p.Pro373Ser) single nucleotide variant NCOA1-related disorder [RCV003410225]|not specified [RCV004204508] Chr2:24706587 [GRCh38]
Chr2:24929456 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1583A>G (p.Asn528Ser) single nucleotide variant not specified [RCV004121113] Chr2:24707053 [GRCh38]
Chr2:24929922 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1528C>T (p.Pro510Ser) single nucleotide variant not specified [RCV004152216] Chr2:24706998 [GRCh38]
Chr2:24929867 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3034G>A (p.Val1012Ile) single nucleotide variant not specified [RCV004122348] Chr2:24729648 [GRCh38]
Chr2:24952517 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2149A>C (p.Thr717Pro) single nucleotide variant not specified [RCV004133452] Chr2:24707619 [GRCh38]
Chr2:24930488 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2185T>C (p.Ser729Pro) single nucleotide variant NCOA1-related disorder [RCV003936653]|not specified [RCV004124232] Chr2:24707655 [GRCh38]
Chr2:24930524 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1786A>G (p.Ile596Val) single nucleotide variant NCOA1-related disorder [RCV004741433]|not specified [RCV004152884] Chr2:24707256 [GRCh38]
Chr2:24930125 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3772A>T (p.Met1258Leu) single nucleotide variant not specified [RCV004103495] Chr2:24752047 [GRCh38]
Chr2:24974916 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2249G>A (p.Arg750His) single nucleotide variant NCOA1-related disorder [RCV003395626]|not specified [RCV004074005] Chr2:24707719 [GRCh38]
Chr2:24930588 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1445C>G (p.Ser482Cys) single nucleotide variant NCOA1-related disorder [RCV003966288]|not specified [RCV004251081] Chr2:24706915 [GRCh38]
Chr2:24929784 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4078G>T (p.Ala1360Ser) single nucleotide variant NCOA1-related disorder [RCV004741470]|not specified [RCV004279733] Chr2:24762699 [GRCh38]
Chr2:24985568 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:24962301-26257604)x1 copy number loss not provided [RCV003223075] Chr2:24962301..26257604 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3226A>G (p.Ile1076Val) single nucleotide variant NCOA1-related disorder [RCV004741467]|not specified [RCV004261392] Chr2:24739456 [GRCh38]
Chr2:24962325 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2384C>T (p.Thr795Ile) single nucleotide variant NCOA1-related disorder [RCV003946477]|not specified [RCV004300002] Chr2:24707854 [GRCh38]
Chr2:24930723 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2534T>C (p.Ile845Thr) single nucleotide variant not specified [RCV004329265] Chr2:24711046 [GRCh38]
Chr2:24933915 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2627T>C (p.Ile876Thr) single nucleotide variant NCOA1-related disorder [RCV003420672]|not specified [RCV004335682] Chr2:24726616 [GRCh38]
Chr2:24949485 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2074C>G (p.Arg692Gly) single nucleotide variant not specified [RCV004355856] Chr2:24707544 [GRCh38]
Chr2:24930413 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.223G>A (p.Asp75Asn) single nucleotide variant not specified [RCV004360583] Chr2:24665882 [GRCh38]
Chr2:24888751 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1654G>A (p.Val552Ile) single nucleotide variant not specified [RCV004360386] Chr2:24707124 [GRCh38]
Chr2:24929993 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2591G>A (p.Arg864Lys) single nucleotide variant not specified [RCV004346978] Chr2:24711103 [GRCh38]
Chr2:24933972 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1517A>G (p.Asn506Ser) single nucleotide variant NCOA1-related disorder [RCV004741494]|not specified [RCV004356500] Chr2:24706987 [GRCh38]
Chr2:24929856 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3732C>G (p.Asn1244Lys) single nucleotide variant not specified [RCV004347785] Chr2:24752007 [GRCh38]
Chr2:24974876 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3709A>G (p.Met1237Val) single nucleotide variant NCOA1-related disorder [RCV003397024]|not specified [RCV004358555] Chr2:24751984 [GRCh38]
Chr2:24974853 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1538C>T (p.Ser513Leu) single nucleotide variant NCOA1-related disorder [RCV003427770] Chr2:24707008 [GRCh38]
Chr2:24929877 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1640G>T (p.Gly547Val) single nucleotide variant NCOA1-related disorder [RCV003405846] Chr2:24707110 [GRCh38]
Chr2:24929979 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.17A>G (p.Asp6Gly) single nucleotide variant NCOA1-related disorder [RCV003397283] Chr2:24658694 [GRCh38]
Chr2:24881563 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2411A>G (p.Gln804Arg) single nucleotide variant NCOA1-related disorder [RCV003402611] Chr2:24707881 [GRCh38]
Chr2:24930750 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2569G>A (p.Ala857Thr) single nucleotide variant NCOA1-related disorder [RCV003404322] Chr2:24711081 [GRCh38]
Chr2:24933950 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1727A>C (p.Gln576Pro) single nucleotide variant NCOA1-related disorder [RCV003402603] Chr2:24707197 [GRCh38]
Chr2:24930066 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1316G>A (p.Gly439Glu) single nucleotide variant NCOA1-related disorder [RCV003402653] Chr2:24706786 [GRCh38]
Chr2:24929655 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3266A>G (p.Asn1089Ser) single nucleotide variant NCOA1-related disorder [RCV003408504] Chr2:24739496 [GRCh38]
Chr2:24962365 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.164G>C (p.Ser55Thr) single nucleotide variant NCOA1-related disorder [RCV003392768] Chr2:24665823 [GRCh38]
Chr2:24888692 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1923C>T (p.Ala641=) single nucleotide variant NCOA1-related disorder [RCV003980906]|not provided [RCV003425529] Chr2:24707393 [GRCh38]
Chr2:24930262 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3416G>A (p.Ser1139Asn) single nucleotide variant NCOA1-related disorder [RCV003408673] Chr2:24741896 [GRCh38]
Chr2:24964765 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.876G>A (p.Val292=) single nucleotide variant NCOA1-related disorder [RCV003408635] Chr2:24697725 [GRCh38]
Chr2:24920594 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2395A>T (p.Ile799Leu) single nucleotide variant NCOA1-related disorder [RCV003408666] Chr2:24707865 [GRCh38]
Chr2:24930734 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.675T>G (p.Thr225=) single nucleotide variant not provided [RCV003415514] Chr2:24691623 [GRCh38]
Chr2:24914492 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.771G>C (p.Thr257=) single nucleotide variant not provided [RCV003415515] Chr2:24693310 [GRCh38]
Chr2:24916179 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.852C>A (p.Gly284=) single nucleotide variant not provided [RCV003415516] Chr2:24697701 [GRCh38]
Chr2:24920570 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1434T>C (p.Gly478=) single nucleotide variant not provided [RCV003415517] Chr2:24706904 [GRCh38]
Chr2:24929773 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2516C>T (p.Ala839Val) single nucleotide variant NCOA1-related disorder [RCV003901058]|not provided [RCV003415518] Chr2:24711028 [GRCh38]
Chr2:24933897 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1259G>A (p.Arg420His) single nucleotide variant NCOA1-related disorder [RCV003402581] Chr2:24706729 [GRCh38]
Chr2:24929598 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1134T>A (p.Asn378Lys) single nucleotide variant NCOA1-related disorder [RCV003414193]|not specified [RCV004362803] Chr2:24706604 [GRCh38]
Chr2:24929473 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2434G>A (p.Asp812Asn) single nucleotide variant NCOA1-related disorder [RCV003414260] Chr2:24710946 [GRCh38]
Chr2:24933815 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4141G>A (p.Ala1381Thr) single nucleotide variant NCOA1-related disorder [RCV003416647] Chr2:24762762 [GRCh38]
Chr2:24985631 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.76A>C (p.Thr26Pro) single nucleotide variant NCOA1-related disorder [RCV003427836] Chr2:24658753 [GRCh38]
Chr2:24881622 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2742T>A (p.Asp914Glu) single nucleotide variant NCOA1-related disorder [RCV003392743] Chr2:24728332 [GRCh38]
Chr2:24951201 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3273A>T (p.Arg1091Ser) single nucleotide variant NCOA1-related disorder [RCV003414218] Chr2:24739503 [GRCh38]
Chr2:24962372 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.991A>G (p.Ile331Val) single nucleotide variant NCOA1-related disorder [RCV003414450] Chr2:24705127 [GRCh38]
Chr2:24927996 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2323G>C (p.Val775Leu) single nucleotide variant NCOA1-related disorder [RCV003414515]|not specified [RCV004636728] Chr2:24707793 [GRCh38]
Chr2:24930662 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1402T>G (p.Ser468Ala) single nucleotide variant NCOA1-related disorder [RCV003410409] Chr2:24706872 [GRCh38]
Chr2:24929741 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2270A>G (p.Glu757Gly) single nucleotide variant NCOA1-related disorder [RCV003417041] Chr2:24707740 [GRCh38]
Chr2:24930609 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3838C>T (p.Pro1280Ser) single nucleotide variant NCOA1-related disorder [RCV003417098] Chr2:24752113 [GRCh38]
Chr2:24974982 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1490T>C (p.Leu497Ser) single nucleotide variant NCOA1-related disorder [RCV003402302] Chr2:24706960 [GRCh38]
Chr2:24929829 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1154G>A (p.Arg385Gln) single nucleotide variant NCOA1-related disorder [RCV003410626] Chr2:24706624 [GRCh38]
Chr2:24929493 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2464G>A (p.Glu822Lys) single nucleotide variant NCOA1-related disorder [RCV003402655] Chr2:24710976 [GRCh38]
Chr2:24933845 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4127T>C (p.Leu1376Pro) single nucleotide variant NCOA1-related disorder [RCV003427853] Chr2:24762748 [GRCh38]
Chr2:24985617 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1553C>G (p.Pro518Arg) single nucleotide variant NCOA1-related disorder [RCV003427851] Chr2:24707023 [GRCh38]
Chr2:24929892 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4263G>A (p.Thr1421=) single nucleotide variant NCOA1-related disorder [RCV003941433] Chr2:24768328 [GRCh38]
Chr2:24991197 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3830A>G (p.Tyr1277Cys) single nucleotide variant NCOA1-related disorder [RCV003892322] Chr2:24752105 [GRCh38]
Chr2:24974974 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2485G>A (p.Gly829Ser) single nucleotide variant NCOA1-related disorder [RCV003941409] Chr2:24710997 [GRCh38]
Chr2:24933866 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3876CAA[1] (p.Asn1294del) microsatellite NCOA1-related disorder [RCV003969709] Chr2:24752149..24752151 [GRCh38]
Chr2:24975018..24975020 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2462T>C (p.Leu821Pro) single nucleotide variant NCOA1-related disorder [RCV003976880] Chr2:24710974 [GRCh38]
Chr2:24933843 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2736A>G (p.Gln912=) single nucleotide variant NCOA1-related disorder [RCV003912207] Chr2:24728326 [GRCh38]
Chr2:24951195 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1292A>G (p.His431Arg) single nucleotide variant NCOA1-related disorder [RCV003919783] Chr2:24706762 [GRCh38]
Chr2:24929631 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3558G>A (p.Pro1186=) single nucleotide variant NCOA1-related disorder [RCV003941871] Chr2:24742038 [GRCh38]
Chr2:24964907 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.306T>C (p.Ser102=) single nucleotide variant NCOA1-related disorder [RCV003951715] Chr2:24673415 [GRCh38]
Chr2:24896284 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2904A>G (p.Val968=) single nucleotide variant NCOA1-related disorder [RCV003896679] Chr2:24729518 [GRCh38]
Chr2:24952387 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.4216G>A (p.Asp1406Asn) single nucleotide variant NCOA1-related disorder [RCV003903819]|not provided [RCV004696573] Chr2:24768281 [GRCh38]
Chr2:24991150 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 copy number gain See cases [RCV004442780] Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_003743.5(NCOA1):c.1690A>G (p.Met564Val) single nucleotide variant NCOA1-related disorder [RCV003943829] Chr2:24707160 [GRCh38]
Chr2:24930029 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4281C>T (p.Pro1427=) single nucleotide variant NCOA1-related disorder [RCV003957139] Chr2:24768346 [GRCh38]
Chr2:24991215 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2430C>T (p.Asp810=) single nucleotide variant NCOA1-related disorder [RCV003914342] Chr2:24710942 [GRCh38]
Chr2:24933811 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.517C>T (p.Leu173=) single nucleotide variant NCOA1-related disorder [RCV003957307] Chr2:24683113 [GRCh38]
Chr2:24905982 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1542A>G (p.Thr514=) single nucleotide variant NCOA1-related disorder [RCV003896291] Chr2:24707012 [GRCh38]
Chr2:24929881 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2003C>T (p.Ser668Phe) single nucleotide variant NCOA1-related disorder [RCV003901937] Chr2:24707473 [GRCh38]
Chr2:24930342 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2517G>A (p.Ala839=) single nucleotide variant NCOA1-related disorder [RCV003961921] Chr2:24711029 [GRCh38]
Chr2:24933898 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.4106A>G (p.Asn1369Ser) single nucleotide variant NCOA1-related disorder [RCV003902148] Chr2:24762727 [GRCh38]
Chr2:24985596 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2940A>G (p.Pro980=) single nucleotide variant NCOA1-related disorder [RCV003902259] Chr2:24729554 [GRCh38]
Chr2:24952423 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3712G>A (p.Val1238Ile) single nucleotide variant NCOA1-related disorder [RCV003967364] Chr2:24751987 [GRCh38]
Chr2:24974856 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1451C>T (p.Ala484Val) single nucleotide variant NCOA1-related disorder [RCV003923993] Chr2:24706921 [GRCh38]
Chr2:24929790 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3213A>G (p.Gln1071=) single nucleotide variant NCOA1-related disorder [RCV003924164] Chr2:24739443 [GRCh38]
Chr2:24962312 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1539G>A (p.Ser513=) single nucleotide variant NCOA1-related disorder [RCV003963817] Chr2:24707009 [GRCh38]
Chr2:24929878 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2910A>G (p.Ser970=) single nucleotide variant NCOA1-related disorder [RCV003896363] Chr2:24729524 [GRCh38]
Chr2:24952393 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2259A>G (p.Leu753=) single nucleotide variant NCOA1-related disorder [RCV003964746] Chr2:24707729 [GRCh38]
Chr2:24930598 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.89+4G>A single nucleotide variant NCOA1-related disorder [RCV003921638] Chr2:24658770 [GRCh38]
Chr2:24881639 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3882T>C (p.Asn1294=) single nucleotide variant NCOA1-related disorder [RCV003936921] Chr2:24757973 [GRCh38]
Chr2:24980842 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.93G>A (p.Thr31=) single nucleotide variant NCOA1-related disorder [RCV003907242] Chr2:24665752 [GRCh38]
Chr2:24888621 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3144G>A (p.Pro1048=) single nucleotide variant NCOA1-related disorder [RCV003944731] Chr2:24729758 [GRCh38]
Chr2:24952627 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.4000A>G (p.Met1334Val) single nucleotide variant NCOA1-related disorder [RCV003899559] Chr2:24758091 [GRCh38]
Chr2:24980960 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.639A>G (p.Glu213=) single nucleotide variant NCOA1-related disorder [RCV003949117] Chr2:24691587 [GRCh38]
Chr2:24914456 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3060G>A (p.Thr1020=) single nucleotide variant NCOA1-related disorder [RCV003944783] Chr2:24729674 [GRCh38]
Chr2:24952543 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1167G>A (p.Ser389=) single nucleotide variant NCOA1-related disorder [RCV003952245] Chr2:24706637 [GRCh38]
Chr2:24929506 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2617T>C (p.Leu873=) single nucleotide variant NCOA1-related disorder [RCV003931846] Chr2:24726606 [GRCh38]
Chr2:24949475 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1622T>C (p.Leu541Ser) single nucleotide variant NCOA1-related disorder [RCV003937154] Chr2:24707092 [GRCh38]
Chr2:24929961 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3429C>T (p.Asn1143=) single nucleotide variant NCOA1-related disorder [RCV003921659] Chr2:24741909 [GRCh38]
Chr2:24964778 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2802A>G (p.Glu934=) single nucleotide variant NCOA1-related disorder [RCV003964524] Chr2:24728392 [GRCh38]
Chr2:24951261 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2997T>C (p.Ser999=) single nucleotide variant NCOA1-related disorder [RCV003896981] Chr2:24729611 [GRCh38]
Chr2:24952480 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.945A>G (p.Gln315=) single nucleotide variant NCOA1-related disorder [RCV003979875] Chr2:24697794 [GRCh38]
Chr2:24920663 [GRCh37]
Chr2:2p23.3		 benign
NM_003743.5(NCOA1):c.2175A>G (p.Val725=) single nucleotide variant NCOA1-related disorder [RCV003962289] Chr2:24707645 [GRCh38]
Chr2:24930514 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.465C>T (p.Ser155=) single nucleotide variant NCOA1-related disorder [RCV003932066] Chr2:24683061 [GRCh38]
Chr2:24905930 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1761G>A (p.Glu587=) single nucleotide variant NCOA1-related disorder [RCV003944410] Chr2:24707231 [GRCh38]
Chr2:24930100 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.4117T>C (p.Ser1373Pro) single nucleotide variant NCOA1-related disorder [RCV003904339] Chr2:24762738 [GRCh38]
Chr2:24985607 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3840A>G (p.Pro1280=) single nucleotide variant NCOA1-related disorder [RCV003904621] Chr2:24752115 [GRCh38]
Chr2:24974984 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.4066A>C (p.Ile1356Leu) single nucleotide variant NCOA1-related disorder [RCV003923810] Chr2:24762687 [GRCh38]
Chr2:24985556 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2025T>C (p.Ser675=) single nucleotide variant NCOA1-related disorder [RCV003923846] Chr2:24707495 [GRCh38]
Chr2:24930364 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.27C>A (p.Ser9=) single nucleotide variant NCOA1-related disorder [RCV003959386] Chr2:24658704 [GRCh38]
Chr2:24881573 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.27C>T (p.Ser9=) single nucleotide variant NCOA1-related disorder [RCV003969286] Chr2:24658704 [GRCh38]
Chr2:24881573 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3707-10C>A single nucleotide variant NCOA1-related disorder [RCV003933887] Chr2:24751972 [GRCh38]
Chr2:24974841 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3471C>A (p.Pro1157=) single nucleotide variant NCOA1-related disorder [RCV003951491] Chr2:24741951 [GRCh38]
Chr2:24964820 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2568C>T (p.Ser856=) single nucleotide variant NCOA1-related disorder [RCV003979859] Chr2:24711080 [GRCh38]
Chr2:24933949 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.4084A>C (p.Arg1362=) single nucleotide variant NCOA1-related disorder [RCV003934048] Chr2:24762705 [GRCh38]
Chr2:24985574 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1419T>C (p.Asn473=) single nucleotide variant NCOA1-related disorder [RCV003909574] Chr2:24706889 [GRCh38]
Chr2:24929758 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1161T>C (p.Asn387=) single nucleotide variant NCOA1-related disorder [RCV003927399] Chr2:24706631 [GRCh38]
Chr2:24929500 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.276C>T (p.Asp92=) single nucleotide variant NCOA1-related disorder [RCV003929549] Chr2:24673385 [GRCh38]
Chr2:24896254 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1287C>T (p.Ser429=) single nucleotide variant NCOA1-related disorder [RCV003912214] Chr2:24706757 [GRCh38]
Chr2:24929626 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.867A>G (p.Glu289=) single nucleotide variant NCOA1-related disorder [RCV003899525] Chr2:24697716 [GRCh38]
Chr2:24920585 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2419-8A>G single nucleotide variant NCOA1-related disorder [RCV003981919] Chr2:24710923 [GRCh38]
Chr2:24933792 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3771G>A (p.Pro1257=) single nucleotide variant NCOA1-related disorder [RCV003899576] Chr2:24752046 [GRCh38]
Chr2:24974915 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1335C>T (p.Pro445=) single nucleotide variant NCOA1-related disorder [RCV003906964] Chr2:24706805 [GRCh38]
Chr2:24929674 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3881+5G>A single nucleotide variant NCOA1-related disorder [RCV003906973] Chr2:24752161 [GRCh38]
Chr2:24975030 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4030C>G (p.Gln1344Glu) single nucleotide variant NCOA1-related disorder [RCV003893610] Chr2:24758121 [GRCh38]
Chr2:24980990 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2951T>C (p.Met984Thr) single nucleotide variant NCOA1-related disorder [RCV003972286] Chr2:24729565 [GRCh38]
Chr2:24952434 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.414G>A (p.Glu138=) single nucleotide variant NCOA1-related disorder [RCV003922007] Chr2:24683010 [GRCh38]
Chr2:24905879 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3801T>G (p.Leu1267=) single nucleotide variant NCOA1-related disorder [RCV003979570] Chr2:24752076 [GRCh38]
Chr2:24974945 [GRCh37]
Chr2:2p23.3		 benign
NM_003743.5(NCOA1):c.1617A>G (p.Thr539=) single nucleotide variant NCOA1-related disorder [RCV003951783] Chr2:24707087 [GRCh38]
Chr2:24929956 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3954C>T (p.Thr1318=) single nucleotide variant NCOA1-related disorder [RCV003952129] Chr2:24758045 [GRCh38]
Chr2:24980914 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1360G>A (p.Ala454Thr) single nucleotide variant NCOA1-related disorder [RCV003909600] Chr2:24706830 [GRCh38]
Chr2:24929699 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1884A>G (p.Gln628=) single nucleotide variant NCOA1-related disorder [RCV003909724] Chr2:24707354 [GRCh38]
Chr2:24930223 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3668C>T (p.Pro1223Leu) single nucleotide variant not specified [RCV004471385] Chr2:24742148 [GRCh38]
Chr2:24965017 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4175T>C (p.Val1392Ala) single nucleotide variant not specified [RCV004471392] Chr2:24768240 [GRCh38]
Chr2:24991109 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.162T>G (p.Ile54Met) single nucleotide variant not specified [RCV004468829] Chr2:24665821 [GRCh38]
Chr2:24888690 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.280G>A (p.Val94Ile) single nucleotide variant not specified [RCV004471370] Chr2:24673389 [GRCh38]
Chr2:24896258 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2639T>C (p.Phe880Ser) single nucleotide variant not specified [RCV004471361] Chr2:24726628 [GRCh38]
Chr2:24949497 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3208C>T (p.His1070Tyr) single nucleotide variant not specified [RCV004471376] Chr2:24739438 [GRCh38]
Chr2:24962307 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.463A>T (p.Ser155Cys) single nucleotide variant NCOA1-related disorder [RCV004738965]|not specified [RCV004471396] Chr2:24683059 [GRCh38]
Chr2:24905928 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1505G>A (p.Arg502Lys) single nucleotide variant NCOA1-related disorder [RCV004738963]|not specified [RCV004468815] Chr2:24706975 [GRCh38]
Chr2:24929844 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1724T>C (p.Ile575Thr) single nucleotide variant NCOA1-related disorder [RCV004738964]|not specified [RCV004468834] Chr2:24707194 [GRCh38]
Chr2:24930063 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_24443763)_(26068452_?)dup duplication Tatton-Brown-Rahman overgrowth syndrome [RCV004583687] Chr2:24443763..26068452 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_24443763)_(25536853_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV004583685] Chr2:24443763..25536853 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_003743.5(NCOA1):c.2567C>A (p.Ser856Tyr) single nucleotide variant not specified [RCV004641327] Chr2:24711079 [GRCh38]
Chr2:24933948 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.650G>A (p.Arg217His) single nucleotide variant NCOA1-related disorder [RCV004738975]|not specified [RCV004654506] Chr2:24691598 [GRCh38]
Chr2:24914467 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2252A>G (p.Tyr751Cys) single nucleotide variant not specified [RCV004654507] Chr2:24707722 [GRCh38]
Chr2:24930591 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1988C>A (p.Thr663Asn) single nucleotide variant not specified [RCV004654508] Chr2:24707458 [GRCh38]
Chr2:24930327 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3826G>A (p.Gly1276Arg) single nucleotide variant not specified [RCV004654509] Chr2:24752101 [GRCh38]
Chr2:24974970 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2525G>A (p.Ser842Asn) single nucleotide variant not specified [RCV004654510] Chr2:24711037 [GRCh38]
Chr2:24933906 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3134A>C (p.Asn1045Thr) single nucleotide variant not specified [RCV004654511] Chr2:24729748 [GRCh38]
Chr2:24952617 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1045C>A (p.Pro349Thr) single nucleotide variant NCOA1-related disorder [RCV004739260] Chr2:24705181 [GRCh38]
Chr2:24928050 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1866A>G (p.Gly622=) single nucleotide variant NCOA1-related disorder [RCV004739832] Chr2:24707336 [GRCh38]
Chr2:24930205 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2002T>A (p.Ser668Thr) single nucleotide variant NCOA1-related disorder [RCV004739840] Chr2:24707472 [GRCh38]
Chr2:24930341 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.99G>A (p.Lys33=) single nucleotide variant NCOA1-related disorder [RCV004739842] Chr2:24665758 [GRCh38]
Chr2:24888627 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3143C>T (p.Pro1048Leu) single nucleotide variant NCOA1-related disorder [RCV004739946] Chr2:24729757 [GRCh38]
Chr2:24952626 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3552C>T (p.Thr1184=) single nucleotide variant NCOA1-related disorder [RCV004740153] Chr2:24742032 [GRCh38]
Chr2:24964901 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.461_462delinsTC (p.Thr154Ile) indel NCOA1-related disorder [RCV004739015] Chr2:24683057..24683058 [GRCh38]
Chr2:24905926..24905927 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3571G>A (p.Ala1191Thr) single nucleotide variant NCOA1-related disorder [RCV004739020] Chr2:24742051 [GRCh38]
Chr2:24964920 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1112T>C (p.Leu371Pro) single nucleotide variant NCOA1-related disorder [RCV004739055] Chr2:24706582 [GRCh38]
Chr2:24929451 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2153C>T (p.Ser718Phe) single nucleotide variant NCOA1-related disorder [RCV004738996] Chr2:24707623 [GRCh38]
Chr2:24930492 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.380del (p.Val127fs) deletion NCOA1-related disorder [RCV004739137] Chr2:24682976 [GRCh38]
Chr2:24905845 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1500G>A (p.Arg500=) single nucleotide variant NCOA1-related disorder [RCV004739183] Chr2:24706970 [GRCh38]
Chr2:24929839 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.432A>G (p.Leu144=) single nucleotide variant NCOA1-related disorder [RCV004739804] Chr2:24683028 [GRCh38]
Chr2:24905897 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.82G>C (p.Ala28Pro) single nucleotide variant NCOA1-related disorder [RCV004728559] Chr2:24658759 [GRCh38]
Chr2:24881628 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2901T>G (p.Asp967Glu) single nucleotide variant NCOA1-related disorder [RCV004740909] Chr2:24729515 [GRCh38]
Chr2:24952384 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2991T>C (p.Ser997=) single nucleotide variant NCOA1-related disorder [RCV004740941] Chr2:24729605 [GRCh38]
Chr2:24952474 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1097+4C>T single nucleotide variant NCOA1-related disorder [RCV004740978] Chr2:24705237 [GRCh38]
Chr2:24928106 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2145A>T (p.Ala715=) single nucleotide variant NCOA1-related disorder [RCV004741024] Chr2:24707615 [GRCh38]
Chr2:24930484 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1093G>A (p.Asp365Asn) single nucleotide variant NCOA1-related disorder [RCV004739774] Chr2:24705229 [GRCh38]
Chr2:24928098 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4213G>A (p.Gly1405Arg) single nucleotide variant NCOA1-related disorder [RCV004739889] Chr2:24768278 [GRCh38]
Chr2:24991147 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2922A>G (p.Pro974=) single nucleotide variant NCOA1-related disorder [RCV004739973] Chr2:24729536 [GRCh38]
Chr2:24952405 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3557C>T (p.Pro1186Leu) single nucleotide variant NCOA1-related disorder [RCV004740137] Chr2:24742037 [GRCh38]
Chr2:24964906 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2375C>A (p.Thr792Asn) single nucleotide variant NCOA1-related disorder [RCV004724379] Chr2:24707845 [GRCh38]
Chr2:24930714 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2285C>G (p.Ser762Ter) single nucleotide variant NCOA1-related disorder [RCV004724373] Chr2:24707755 [GRCh38]
Chr2:24930624 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3977C>T (p.Thr1326Met) single nucleotide variant NCOA1-related disorder [RCV004740761] Chr2:24758068 [GRCh38]
Chr2:24980937 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3912C>A (p.Pro1304=) single nucleotide variant NCOA1-related disorder [RCV004740785] Chr2:24758003 [GRCh38]
Chr2:24980872 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1485T>G (p.Ser495=) single nucleotide variant NCOA1-related disorder [RCV004740805] Chr2:24706955 [GRCh38]
Chr2:24929824 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2011T>G (p.Ser671Ala) single nucleotide variant NCOA1-related disorder [RCV004740872] Chr2:24707481 [GRCh38]
Chr2:24930350 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.578A>G (p.His193Arg) single nucleotide variant NCOA1-related disorder [RCV004740894] Chr2:24691526 [GRCh38]
Chr2:24914395 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.986G>A (p.Arg329Lys) single nucleotide variant NCOA1-related disorder [RCV004740898] Chr2:24705122 [GRCh38]
Chr2:24927991 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1016G>C (p.Ser339Thr) single nucleotide variant NCOA1-related disorder [RCV004740918] Chr2:24705152 [GRCh38]
Chr2:24928021 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3915G>A (p.Thr1305=) single nucleotide variant NCOA1-related disorder [RCV004740850] Chr2:24758006 [GRCh38]
Chr2:24980875 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.723A>G (p.Ser241=) single nucleotide variant NCOA1-related disorder [RCV004740969] Chr2:24693262 [GRCh38]
Chr2:24916131 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.-7T>C single nucleotide variant NCOA1-related disorder [RCV004740934] Chr2:24658671 [GRCh38]
Chr2:24881540 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1258C>T (p.Arg420Cys) single nucleotide variant NCOA1-related disorder [RCV004739731] Chr2:24706728 [GRCh38]
Chr2:24929597 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3527A>G (p.Asn1176Ser) single nucleotide variant NCOA1-related disorder [RCV004739800] Chr2:24742007 [GRCh38]
Chr2:24964876 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2995_2997del (p.Ser999del) deletion NCOA1-related disorder [RCV004739918] Chr2:24729607..24729609 [GRCh38]
Chr2:24952476..24952478 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4155+7A>G single nucleotide variant NCOA1-related disorder [RCV004740026] Chr2:24762783 [GRCh38]
Chr2:24985652 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1670G>C (p.Ser557Thr) single nucleotide variant NCOA1-related disorder [RCV004740028] Chr2:24707140 [GRCh38]
Chr2:24930009 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.6T>C (p.Ser2=) single nucleotide variant NCOA1-related disorder [RCV004740033] Chr2:24658683 [GRCh38]
Chr2:24881552 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.66G>A (p.Ser22=) single nucleotide variant NCOA1-related disorder [RCV004740037] Chr2:24658743 [GRCh38]
Chr2:24881612 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2934A>C (p.Ala978=) single nucleotide variant NCOA1-related disorder [RCV004740188] Chr2:24729548 [GRCh38]
Chr2:24952417 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3673A>T (p.Met1225Leu) single nucleotide variant NCOA1-related disorder [RCV004740772] Chr2:24742153 [GRCh38]
Chr2:24965022 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1714A>C (p.Arg572=) single nucleotide variant NCOA1-related disorder [RCV004740857] Chr2:24707184 [GRCh38]
Chr2:24930053 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.*3A>G single nucleotide variant NCOA1-related disorder [RCV004740889] Chr2:24768394 [GRCh38]
Chr2:24991263 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1066C>A (p.Pro356Thr) single nucleotide variant NCOA1-related disorder [RCV004740968] Chr2:24705202 [GRCh38]
Chr2:24928071 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3601C>T (p.Arg1201Cys) single nucleotide variant NCOA1-related disorder [RCV004740999] Chr2:24742081 [GRCh38]
Chr2:24964950 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4278C>T (p.Thr1426=) single nucleotide variant NCOA1-related disorder [RCV004741013] Chr2:24768343 [GRCh38]
Chr2:24991212 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2033C>T (p.Ser678Phe) single nucleotide variant NCOA1-related disorder [RCV004729655] Chr2:24707503 [GRCh38]
Chr2:24930372 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1549T>C (p.Ser517Pro) single nucleotide variant NCOA1-related disorder [RCV004739004] Chr2:24707019 [GRCh38]
Chr2:24929888 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2092A>G (p.Ser698Gly) single nucleotide variant NCOA1-related disorder [RCV004739021] Chr2:24707562 [GRCh38]
Chr2:24930431 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2495A>G (p.Glu832Gly) single nucleotide variant NCOA1-related disorder [RCV004739092] Chr2:24711007 [GRCh38]
Chr2:24933876 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4291C>T (p.Gln1431Ter) single nucleotide variant NCOA1-related disorder [RCV004739108] Chr2:24768356 [GRCh38]
Chr2:24991225 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1918A>G (p.Thr640Ala) single nucleotide variant NCOA1-related disorder [RCV004739189] Chr2:24707388 [GRCh38]
Chr2:24930257 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2309A>G (p.Asp770Gly) single nucleotide variant NCOA1-related disorder [RCV004739132] Chr2:24707779 [GRCh38]
Chr2:24930648 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3881+10C>G single nucleotide variant NCOA1-related disorder [RCV004729944] Chr2:24752166 [GRCh38]
Chr2:24975035 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2339A>G (p.Gln780Arg) single nucleotide variant NCOA1-related disorder [RCV004739197] Chr2:24707809 [GRCh38]
Chr2:24930678 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3077C>T (p.Thr1026Ile) single nucleotide variant NCOA1-related disorder [RCV004739748] Chr2:24729691 [GRCh38]
Chr2:24952560 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.13G>A (p.Gly5Arg) single nucleotide variant NCOA1-related disorder [RCV004739782] Chr2:24658690 [GRCh38]
Chr2:24881559 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.531A>G (p.Leu177=) single nucleotide variant NCOA1-related disorder [RCV004739890] Chr2:24683127 [GRCh38]
Chr2:24905996 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3148G>A (p.Ala1050Thr) single nucleotide variant NCOA1-related disorder [RCV004739978] Chr2:24729762 [GRCh38]
Chr2:24952631 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2936C>T (p.Thr979Met) single nucleotide variant NCOA1-related disorder [RCV004740166] Chr2:24729550 [GRCh38]
Chr2:24952419 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.28G>A (p.Asp10Asn) single nucleotide variant NCOA1-related disorder [RCV004740742] Chr2:24658705 [GRCh38]
Chr2:24881574 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2018G>A (p.Gly673Glu) single nucleotide variant NCOA1-related disorder [RCV004740744] Chr2:24707488 [GRCh38]
Chr2:24930357 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3304-3C>T single nucleotide variant NCOA1-related disorder [RCV004740764] Chr2:24741781 [GRCh38]
Chr2:24964650 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2102A>G (p.Asp701Gly) single nucleotide variant NCOA1-related disorder [RCV004740808] Chr2:24707572 [GRCh38]
Chr2:24930441 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1485T>C (p.Ser495=) single nucleotide variant NCOA1-related disorder [RCV004740869] Chr2:24706955 [GRCh38]
Chr2:24929824 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1315G>A (p.Gly439Arg) single nucleotide variant NCOA1-related disorder [RCV004740877] Chr2:24706785 [GRCh38]
Chr2:24929654 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2670A>G (p.Pro890=) single nucleotide variant NCOA1-related disorder [RCV004740904] Chr2:24726659 [GRCh38]
Chr2:24949528 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3914C>T (p.Thr1305Met) single nucleotide variant NCOA1-related disorder [RCV004740958] Chr2:24758005 [GRCh38]
Chr2:24980874 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3996C>A (p.Asn1332Lys) single nucleotide variant NCOA1-related disorder [RCV004740988] Chr2:24758087 [GRCh38]
Chr2:24980956 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2675C>T (p.Thr892Ile) single nucleotide variant NCOA1-related disorder [RCV004741015] Chr2:24726664 [GRCh38]
Chr2:24949533 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.422C>G (p.Thr141Ser) single nucleotide variant NCOA1-related disorder [RCV004730111] Chr2:24683018 [GRCh38]
Chr2:24905887 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3421G>C (p.Gly1141Arg) single nucleotide variant NCOA1-related disorder [RCV004730250] Chr2:24741901 [GRCh38]
Chr2:24964770 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3796T>C (p.Ser1266Pro) single nucleotide variant NCOA1-related disorder [RCV004728552] Chr2:24752071 [GRCh38]
Chr2:24974940 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.97A>G (p.Lys33Glu) single nucleotide variant NCOA1-related disorder [RCV004728616] Chr2:24665756 [GRCh38]
Chr2:24888625 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3628A>G (p.Thr1210Ala) single nucleotide variant NCOA1-related disorder [RCV004728480] Chr2:24742108 [GRCh38]
Chr2:24964977 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2837C>T (p.Thr946Ile) single nucleotide variant NCOA1-related disorder [RCV004728555] Chr2:24728427 [GRCh38]
Chr2:24951296 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3632G>C (p.Gly1211Ala) single nucleotide variant NCOA1-related disorder [RCV004726306] Chr2:24742112 [GRCh38]
Chr2:24964981 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1276C>T (p.Leu426Phe) single nucleotide variant NCOA1-related disorder [RCV004739064] Chr2:24706746 [GRCh38]
Chr2:24929615 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3219G>A (p.Arg1073=) single nucleotide variant NCOA1-related disorder [RCV004739125] Chr2:24739449 [GRCh38]
Chr2:24962318 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.4219C>T (p.Pro1407Ser) single nucleotide variant NCOA1-related disorder [RCV004739171] Chr2:24768284 [GRCh38]
Chr2:24991153 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.627C>T (p.Thr209=) single nucleotide variant NCOA1-related disorder [RCV004739194] Chr2:24691575 [GRCh38]
Chr2:24914444 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2600G>T (p.Arg867Ile) single nucleotide variant NCOA1-related disorder [RCV004739135] Chr2:24726589 [GRCh38]
Chr2:24949458 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.477A>C (p.Ile159=) single nucleotide variant NCOA1-related disorder [RCV004739245] Chr2:24683073 [GRCh38]
Chr2:24905942 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1056A>G (p.Pro352=) single nucleotide variant NCOA1-related disorder [RCV004739247] Chr2:24705192 [GRCh38]
Chr2:24928061 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1807A>C (p.Ser603Arg) single nucleotide variant NCOA1-related disorder [RCV004739041] Chr2:24707277 [GRCh38]
Chr2:24930146 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1344G>T (p.Gln448His) single nucleotide variant NCOA1-related disorder [RCV004739054] Chr2:24706814 [GRCh38]
Chr2:24929683 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4156-139A>C single nucleotide variant NCOA1-related disorder [RCV004739024] Chr2:24768082 [GRCh38]
Chr2:24990951 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3620G>C (p.Arg1207Thr) single nucleotide variant NCOA1-related disorder [RCV004739076] Chr2:24742100 [GRCh38]
Chr2:24964969 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1060A>T (p.Met354Leu) single nucleotide variant NCOA1-related disorder [RCV004739087] Chr2:24705196 [GRCh38]
Chr2:24928065 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.146T>A (p.Leu49Ter) single nucleotide variant NCOA1-related disorder [RCV004739163] Chr2:24665805 [GRCh38]
Chr2:24888674 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2615A>G (p.Glu872Gly) single nucleotide variant NCOA1-related disorder [RCV004739177] Chr2:24726604 [GRCh38]
Chr2:24949473 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4110G>T (p.Gln1370His) single nucleotide variant NCOA1-related disorder [RCV004739182] Chr2:24762731 [GRCh38]
Chr2:24985600 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2128G>C (p.Asp710His) single nucleotide variant NCOA1-related disorder [RCV004739235] Chr2:24707598 [GRCh38]
Chr2:24930467 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3768G>A (p.Val1256=) single nucleotide variant NCOA1-related disorder [RCV004739250] Chr2:24752043 [GRCh38]
Chr2:24974912 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.4215G>A (p.Gly1405=) single nucleotide variant NCOA1-related disorder [RCV004739265] Chr2:24768280 [GRCh38]
Chr2:24991149 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3815C>T (p.Pro1272Leu) single nucleotide variant NCOA1-related disorder [RCV004739752] Chr2:24752090 [GRCh38]
Chr2:24974959 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1567A>G (p.Ser523Gly) single nucleotide variant NCOA1-related disorder [RCV004739758] Chr2:24707037 [GRCh38]
Chr2:24929906 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3085C>T (p.Arg1029Ter) single nucleotide variant NCOA1-related disorder [RCV004739882] Chr2:24729699 [GRCh38]
Chr2:24952568 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.222C>T (p.Val74=) single nucleotide variant NCOA1-related disorder [RCV004740039] Chr2:24665881 [GRCh38]
Chr2:24888750 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3660A>G (p.Gly1220=) single nucleotide variant NCOA1-related disorder [RCV004740071] Chr2:24742140 [GRCh38]
Chr2:24965009 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1791A>C (p.Gln597His) single nucleotide variant NCOA1-related disorder [RCV004740758] Chr2:24707261 [GRCh38]
Chr2:24930130 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3294T>G (p.Ile1098Met) single nucleotide variant NCOA1-related disorder [RCV004740771] Chr2:24739524 [GRCh38]
Chr2:24962393 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3930A>C (p.Gly1310=) single nucleotide variant NCOA1-related disorder [RCV004724625] Chr2:24758021 [GRCh38]
Chr2:24980890 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.*8del deletion NCOA1-related disorder [RCV004740860] Chr2:24768396 [GRCh38]
Chr2:24991265 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.649C>T (p.Arg217Cys) single nucleotide variant NCOA1-related disorder [RCV004740892] Chr2:24691597 [GRCh38]
Chr2:24914466 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3825C>T (p.Ser1275=) single nucleotide variant NCOA1-related disorder [RCV004740937] Chr2:24752100 [GRCh38]
Chr2:24974969 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1799A>G (p.Asn600Ser) single nucleotide variant NCOA1-related disorder [RCV004740942] Chr2:24707269 [GRCh38]
Chr2:24930138 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2039A>G (p.His680Arg) single nucleotide variant NCOA1-related disorder [RCV004740945] Chr2:24707509 [GRCh38]
Chr2:24930378 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3735T>C (p.Phe1245=) single nucleotide variant NCOA1-related disorder [RCV004740946] Chr2:24752010 [GRCh38]
Chr2:24974879 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3201+7G>A single nucleotide variant NCOA1-related disorder [RCV004740974] Chr2:24729822 [GRCh38]
Chr2:24952691 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2981_2985del (p.Pro994fs) deletion NCOA1-related disorder [RCV004729743] Chr2:24729594..24729598 [GRCh38]
Chr2:24952463..24952467 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3725A>G (p.Glu1242Gly) single nucleotide variant NCOA1-related disorder [RCV004730011] Chr2:24752000 [GRCh38]
Chr2:24974869 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1247C>G (p.Thr416Ser) single nucleotide variant NCOA1-related disorder [RCV004730232] Chr2:24706717 [GRCh38]
Chr2:24929586 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1153C>G (p.Arg385Gly) single nucleotide variant NCOA1-related disorder [RCV004738997] Chr2:24706623 [GRCh38]
Chr2:24929492 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2481G>A (p.Leu827=) single nucleotide variant NCOA1-related disorder [RCV004739010] Chr2:24710993 [GRCh38]
Chr2:24933862 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.104G>A (p.Arg35His) single nucleotide variant NCOA1-related disorder [RCV004739089] Chr2:24665763 [GRCh38]
Chr2:24888632 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1783A>G (p.Met595Val) single nucleotide variant NCOA1-related disorder [RCV004739114] Chr2:24707253 [GRCh38]
Chr2:24930122 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3591C>G (p.Ser1197=) single nucleotide variant NCOA1-related disorder [RCV004739262] Chr2:24742071 [GRCh38]
Chr2:24964940 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.607C>T (p.Pro203Ser) single nucleotide variant NCOA1-related disorder [RCV004739784] Chr2:24691555 [GRCh38]
Chr2:24914424 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3090T>G (p.Gly1030=) single nucleotide variant NCOA1-related disorder [RCV004739892] Chr2:24729704 [GRCh38]
Chr2:24952573 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3822C>T (p.Ala1274=) single nucleotide variant NCOA1-related disorder [RCV004739915] Chr2:24752097 [GRCh38]
Chr2:24974966 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.4207G>T (p.Val1403Leu) single nucleotide variant NCOA1-related disorder [RCV004740046] Chr2:24768272 [GRCh38]
Chr2:24991141 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1038T>C (p.Leu346=) single nucleotide variant NCOA1-related disorder [RCV004740057] Chr2:24705174 [GRCh38]
Chr2:24928043 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1275C>A (p.Asp425Glu) single nucleotide variant NCOA1-related disorder [RCV004740132] Chr2:24706745 [GRCh38]
Chr2:24929614 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1180A>G (p.Ile394Val) single nucleotide variant NCOA1-related disorder [RCV004740160] Chr2:24706650 [GRCh38]
Chr2:24929519 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2497A>T (p.Thr833Ser) single nucleotide variant NCOA1-related disorder [RCV004724288] Chr2:24711009 [GRCh38]
Chr2:24933878 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1948A>G (p.Ile650Val) single nucleotide variant NCOA1-related disorder [RCV004740146] Chr2:24707418 [GRCh38]
Chr2:24930287 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3669T>G (p.Pro1223=) single nucleotide variant NCOA1-related disorder [RCV004726379] Chr2:24742149 [GRCh38]
Chr2:24965018 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2685A>G (p.Thr895=) single nucleotide variant NCOA1-related disorder [RCV004726367] Chr2:24726674 [GRCh38]
Chr2:24949543 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1394_1396dup (p.Ser465_Asn466insSer) duplication NCOA1-related disorder [RCV004740163] Chr2:24706862..24706863 [GRCh38]
Chr2:24929731..24929732 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1324G>A (p.Gly442Arg) single nucleotide variant NCOA1-related disorder [RCV004740716] Chr2:24706794 [GRCh38]
Chr2:24929663 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2147C>T (p.Ser716Phe) single nucleotide variant NCOA1-related disorder [RCV004724648] Chr2:24707617 [GRCh38]
Chr2:24930486 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1903C>G (p.Gln635Glu) single nucleotide variant NCOA1-related disorder [RCV004724676] Chr2:24707373 [GRCh38]
Chr2:24930242 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1812T>C (p.Asp604=) single nucleotide variant NCOA1-related disorder [RCV004740832] Chr2:24707282 [GRCh38]
Chr2:24930151 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.4211G>C (p.Gly1404Ala) single nucleotide variant NCOA1-related disorder [RCV004740779] Chr2:24768276 [GRCh38]
Chr2:24991145 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2296C>G (p.Leu766Val) single nucleotide variant NCOA1-related disorder [RCV004740975] Chr2:24707766 [GRCh38]
Chr2:24930635 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.713-4G>A single nucleotide variant NCOA1-related disorder [RCV004740985] Chr2:24693248 [GRCh38]
Chr2:24916117 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1184C>G (p.Ser395Cys) single nucleotide variant NCOA1-related disorder [RCV004741010] Chr2:24706654 [GRCh38]
Chr2:24929523 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1902G>A (p.Val634=) single nucleotide variant NCOA1-related disorder [RCV004741021] Chr2:24707372 [GRCh38]
Chr2:24930241 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1841A>G (p.His614Arg) single nucleotide variant NCOA1-related disorder [RCV004726369] Chr2:24707311 [GRCh38]
Chr2:24930180 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.562A>T (p.Thr188Ser) single nucleotide variant NCOA1-related disorder [RCV004726421] Chr2:24691510 [GRCh38]
Chr2:24914379 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3423G>A (p.Gly1141=) single nucleotide variant NCOA1-related disorder [RCV004728466] Chr2:24741903 [GRCh38]
Chr2:24964772 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2240A>G (p.Gln747Arg) single nucleotide variant NCOA1-related disorder [RCV004724467] Chr2:24707710 [GRCh38]
Chr2:24930579 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3033G>T (p.Met1011Ile) single nucleotide variant NCOA1-related disorder [RCV004740722] Chr2:24729647 [GRCh38]
Chr2:24952516 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3888C>T (p.Phe1296=) single nucleotide variant NCOA1-related disorder [RCV004740842] Chr2:24757979 [GRCh38]
Chr2:24980848 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.31C>T (p.Pro11Ser) single nucleotide variant NCOA1-related disorder [RCV004740864] Chr2:24658708 [GRCh38]
Chr2:24881577 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.4075C>T (p.Pro1359Ser) single nucleotide variant NCOA1-related disorder [RCV004740882] Chr2:24762696 [GRCh38]
Chr2:24985565 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.202A>C (p.Lys68Gln) single nucleotide variant NCOA1-related disorder [RCV004740970] Chr2:24665861 [GRCh38]
Chr2:24888730 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1292A>C (p.His431Pro) single nucleotide variant NCOA1-related disorder [RCV004740983] Chr2:24706762 [GRCh38]
Chr2:24929631 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3292A>T (p.Ile1098Phe) single nucleotide variant NCOA1-related disorder [RCV004740991] Chr2:24739522 [GRCh38]
Chr2:24962391 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.906T>G (p.Pro302=) single nucleotide variant NCOA1-related disorder [RCV004740993] Chr2:24697755 [GRCh38]
Chr2:24920624 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3282G>C (p.Met1094Ile) single nucleotide variant NCOA1-related disorder [RCV004740935] Chr2:24739512 [GRCh38]
Chr2:24962381 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3947G>A (p.Ser1316Asn) single nucleotide variant NCOA1-related disorder [RCV004740939] Chr2:24758038 [GRCh38]
Chr2:24980907 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1724T>G (p.Ile575Arg) single nucleotide variant NCOA1-related disorder [RCV004741003] Chr2:24707194 [GRCh38]
Chr2:24930063 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3245C>T (p.Ala1082Val) single nucleotide variant NCOA1-related disorder [RCV004728376] Chr2:24739475 [GRCh38]
Chr2:24962344 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3483G>T (p.Gln1161His) single nucleotide variant NCOA1-related disorder [RCV004726284] Chr2:24741963 [GRCh38]
Chr2:24964832 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.51T>G (p.His17Gln) single nucleotide variant NCOA1-related disorder [RCV004738982] Chr2:24658728 [GRCh38]
Chr2:24881597 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2993C>T (p.Pro998Leu) single nucleotide variant NCOA1-related disorder [RCV004738983] Chr2:24729607 [GRCh38]
Chr2:24952476 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3797C>A (p.Ser1266Tyr) single nucleotide variant NCOA1-related disorder [RCV004739144] Chr2:24752072 [GRCh38]
Chr2:24974941 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3403A>G (p.Met1135Val) single nucleotide variant NCOA1-related disorder [RCV004739240] Chr2:24741883 [GRCh38]
Chr2:24964752 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3436C>T (p.Pro1146Ser) single nucleotide variant NCOA1-related disorder [RCV004739254] Chr2:24741916 [GRCh38]
Chr2:24964785 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3163C>T (p.Arg1055Ter) single nucleotide variant NCOA1-related disorder [RCV004739263] Chr2:24729777 [GRCh38]
Chr2:24952646 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.225T>C (p.Asp75=) single nucleotide variant NCOA1-related disorder [RCV004739750] Chr2:24665884 [GRCh38]
Chr2:24888753 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2376C>G (p.Thr792=) single nucleotide variant NCOA1-related disorder [RCV004739753] Chr2:24707846 [GRCh38]
Chr2:24930715 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.297C>T (p.Ile99=) single nucleotide variant NCOA1-related disorder [RCV004739807] Chr2:24673406 [GRCh38]
Chr2:24896275 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1791A>G (p.Gln597=) single nucleotide variant NCOA1-related disorder [RCV004739822] Chr2:24707261 [GRCh38]
Chr2:24930130 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.651T>G (p.Arg217=) single nucleotide variant NCOA1-related disorder [RCV004739869] Chr2:24691599 [GRCh38]
Chr2:24914468 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.1047T>C (p.Pro349=) single nucleotide variant NCOA1-related disorder [RCV004740005] Chr2:24705183 [GRCh38]
Chr2:24928052 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2010C>T (p.Asn670=) single nucleotide variant NCOA1-related disorder [RCV004740036] Chr2:24707480 [GRCh38]
Chr2:24930349 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.89+3A>G single nucleotide variant NCOA1-related disorder [RCV004740092] Chr2:24658769 [GRCh38]
Chr2:24881638 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2323G>A (p.Val775Met) single nucleotide variant NCOA1-related disorder [RCV004740080] Chr2:24707793 [GRCh38]
Chr2:24930662 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3488C>T (p.Ala1163Val) single nucleotide variant NCOA1-related disorder [RCV004740138] Chr2:24741968 [GRCh38]
Chr2:24964837 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.924T>G (p.Ser308=) single nucleotide variant NCOA1-related disorder [RCV004740099] Chr2:24697773 [GRCh38]
Chr2:24920642 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.3929G>C (p.Gly1310Ala) single nucleotide variant NCOA1-related disorder [RCV004740167] Chr2:24758020 [GRCh38]
Chr2:24980889 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.2398A>G (p.Lys800Glu) single nucleotide variant NCOA1-related disorder [RCV004740116] Chr2:24707868 [GRCh38]
Chr2:24930737 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.3828G>A (p.Gly1276=) single nucleotide variant NCOA1-related disorder [RCV004740190] Chr2:24752103 [GRCh38]
Chr2:24974972 [GRCh37]
Chr2:2p23.3		 likely benign
NM_003743.5(NCOA1):c.2137G>T (p.Asp713Tyr) single nucleotide variant NCOA1-related disorder [RCV004740200] Chr2:24707607 [GRCh38]
Chr2:24930476 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.1868A>G (p.Asp623Gly) single nucleotide variant NCOA1-related disorder [RCV004740202] Chr2:24707338 [GRCh38]
Chr2:24930207 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_003743.5(NCOA1):c.958C>T (p.Arg320Cys) single nucleotide variant NCOA1-related disorder [RCV004724324] Chr2:24705094 [GRCh38]
Chr2:24927963 [GRCh37]
Chr2:2p23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6874
Count of miRNA genes:1007
Interacting mature miRNAs:1262
Transcripts:ENST00000288599, ENST00000348332, ENST00000395856, ENST00000405141, ENST00000406961, ENST00000407230, ENST00000469850, ENST00000483904, ENST00000486198, ENST00000493773, ENST00000496333, ENST00000538539
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406902144GWAS551120_Hlung adenocarcinoma QTL GWAS551120 (human)0.000009lung adenocarcinoma22474485524744856Human
407276871GWAS925847_Hbody height QTL GWAS925847 (human)7e-18body height (VT:0001253)body height (CMO:0000106)22459169024591691Human
407002371GWAS651347_Hbody mass index QTL GWAS651347 (human)2e-41body mass indexbody mass index (BMI) (CMO:0000105)22465828324658284Human
406901826GWAS550802_Htriglyceride measurement QTL GWAS550802 (human)0.000006triglyceride measurementblood triglyceride level (CMO:0000118)22471354824713549Human
407161607GWAS810583_HBMI-adjusted waist circumference QTL GWAS810583 (human)2e-08BMI-adjusted waist circumference22451496424514965Human
407276229GWAS925205_Hbody height QTL GWAS925205 (human)2e-177body height (VT:0001253)body height (CMO:0000106)22469956624699567Human
407002566GWAS651542_Hbody mass index QTL GWAS651542 (human)3e-10body mass indexbody mass index (BMI) (CMO:0000105)22451496424514965Human
406953540GWAS602516_Hbody mass index QTL GWAS602516 (human)3e-10body mass indexbody mass index (BMI) (CMO:0000105)22462394624623947Human
407341070GWAS990046_Hsleep duration QTL GWAS990046 (human)9e-09sleep duration22465086124650862Human
407352908GWAS1001884_HBMI-adjusted waist-hip ratio QTL GWAS1001884 (human)9e-10BMI-adjusted waist-hip ratio22472987124729873Human
407003086GWAS652062_Hbody mass index QTL GWAS652062 (human)3e-24body mass indexbody mass index (BMI) (CMO:0000105)22476721324767214Human
407181014GWAS829990_Hphosphatidylcholine measurement QTL GWAS829990 (human)8e-09phosphatidylcholine measurement22472746824727469Human
407001558GWAS650534_Hbody height QTL GWAS650534 (human)7e-39body height (VT:0001253)body height (CMO:0000106)22473926824739269Human
407186579GWAS835555_Hbody mass index QTL GWAS835555 (human)0.000005body mass indexbody mass index (BMI) (CMO:0000105)22453469524534696Human
406904342GWAS553318_Hbreast carcinoma QTL GWAS553318 (human)0.000005breast carcinoma22474830724748308Human
407001557GWAS650533_Hbody height QTL GWAS650533 (human)6e-16body height (VT:0001253)body height (CMO:0000106)22456455824564559Human
407186578GWAS835554_Hbody mass index QTL GWAS835554 (human)0.000004body mass indexbody mass index (BMI) (CMO:0000105)22468915124689152Human
407034523GWAS683499_Hvital capacity QTL GWAS683499 (human)3e-15vital capacity22466916324669164Human
407085273GWAS734249_Hpregnenolone sulfate measurement QTL GWAS734249 (human)5e-09pregnenolone sulfate measurement22475908524759086Human
407344283GWAS993259_Hsleep duration QTL GWAS993259 (human)2e-09sleep duration22476721324767214Human
406894813GWAS543789_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS543789 (human)0.0000007BMI-adjusted waist circumference, physical activity measurementvoluntary body movement measurement (CMO:0000954)22451496424514965Human
407183451GWAS832427_Hphosphatidylcholine measurement QTL GWAS832427 (human)2e-09phosphatidylcholine measurement22472746824727469Human
407303782GWAS952758_Hbody mass index QTL GWAS952758 (human)2e-13body mass indexbody mass index (BMI) (CMO:0000105)22476721324767214Human
407326502GWAS975478_Htotal cholesterol measurement QTL GWAS975478 (human)6e-14total cholesterol measurementblood total cholesterol level (CMO:0000051)22450373324503734Human
407020771GWAS669747_Htestosterone measurement QTL GWAS669747 (human)1e-08testosterone measurementserum testosterone level (CMO:0000568)22476721324767214Human
406976616GWAS625592_Hintelligence QTL GWAS625592 (human)0.0000001intelligence22461765624617657Human
407103785GWAS752761_Hpeak expiratory flow QTL GWAS752761 (human)3e-08peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)22450087524500876Human
406970986GWAS619962_Hbody mass index QTL GWAS619962 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)22462394624623947Human
407243626GWAS892602_Htestosterone measurement QTL GWAS892602 (human)1e-10testosterone measurementserum testosterone level (CMO:0000568)22476721324767214Human
407030764GWAS679740_Hvital capacity QTL GWAS679740 (human)7e-12vital capacity22450677024506771Human
407229355GWAS878331_Hlung carcinoma QTL GWAS878331 (human)0.000004lung carcinoma22474830724748308Human
407229354GWAS878330_Hlung carcinoma QTL GWAS878330 (human)0.000006lung carcinoma22450677024506771Human
407058611GWAS707587_HBMI-adjusted waist-hip ratio QTL GWAS707587 (human)6e-09BMI-adjusted waist-hip ratio22450771924507720Human
406902578GWAS551554_Hlung carcinoma QTL GWAS551554 (human)0.000004lung carcinoma22453585224535853Human
406902579GWAS551555_Hlung carcinoma QTL GWAS551555 (human)0.000002lung carcinoma22470571024705711Human
407001078GWAS650054_Hbody mass index QTL GWAS650054 (human)3e-21body mass indexbody mass index (BMI) (CMO:0000105)22463323424633235Human
406994550GWAS643526_HBMI-adjusted waist circumference QTL GWAS643526 (human)2e-11testosterone measurementserum testosterone level (CMO:0000568)22476721324767214Human
407342514GWAS991490_HBMI-adjusted waist-hip ratio QTL GWAS991490 (human)1e-08BMI-adjusted waist-hip ratio22472987124729873Human
406994549GWAS643525_HBMI-adjusted waist circumference QTL GWAS643525 (human)1e-12BMI-adjusted waist circumference22458466424584665Human
406990140GWAS639116_Hgrip strength measurement QTL GWAS639116 (human)1e-08grip strength measurement22457134524571346Human
407305401GWAS954377_Hfat body mass QTL GWAS954377 (human)4e-10body fat mass (VT:0010482)total body fat mass (CMO:0000305)22473315824733159Human
407358712GWAS1007688_HBMI-adjusted waist circumference QTL GWAS1007688 (human)8e-09BMI-adjusted waist circumference22476721324767214Human

Markers in Region
WI-20578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375113,539,659 - 113,539,934UniSTSGRCh37
GRCh37224,993,037 - 24,993,310UniSTSGRCh37
Build 36224,846,541 - 24,846,814RGDNCBI36
Celera224,833,348 - 24,833,621RGD
Celera5109,486,908 - 109,487,183UniSTS
Cytogenetic Map2p23UniSTS
HuRef224,730,884 - 24,731,157UniSTS
HuRef5108,722,506 - 108,722,781UniSTS
GeneMap99-GB4 RH Map287.59UniSTS
Whitehead-RH Map2132.1UniSTS
NCBI RH Map2146.5UniSTS
A007I26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,809,813 - 24,809,947UniSTSGRCh37
Build 36224,663,317 - 24,663,451RGDNCBI36
Celera224,650,715 - 24,650,849RGD
Cytogenetic Map2p23UniSTS
HuRef224,548,361 - 24,548,495UniSTS
GeneMap99-GB4 RH Map287.59UniSTS
NCBI RH Map2124.5UniSTS
STS-N23300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,993,254 - 24,993,429UniSTSGRCh37
Build 36224,846,758 - 24,846,933RGDNCBI36
Celera224,833,565 - 24,833,740RGD
Cytogenetic Map2p23UniSTS
HuRef224,731,101 - 24,731,276UniSTS
NCBI RH Map2146.5UniSTS
D2S2066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,959,604 - 24,959,855UniSTSGRCh37
Build 36224,813,108 - 24,813,359RGDNCBI36
Celera224,800,472 - 24,800,723RGD
Cytogenetic Map2p23UniSTS
HuRef224,698,297 - 24,698,548UniSTS
Whitehead-RH Map2139.5UniSTS
Whitehead-YAC Contig Map2 UniSTS
RH45844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,955,644 - 24,955,791UniSTSGRCh37
Build 36224,809,148 - 24,809,295RGDNCBI36
Celera224,796,512 - 24,796,659RGD
Cytogenetic Map2p23UniSTS
HuRef224,694,337 - 24,694,484UniSTS
GeneMap99-GB4 RH Map297.79UniSTS
NCBI RH Map2141.1UniSTS
RH80592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,991,149 - 24,991,379UniSTSGRCh37
Build 36224,844,653 - 24,844,883RGDNCBI36
Celera224,831,461 - 24,831,691RGD
Cytogenetic Map2p23UniSTS
HuRef224,728,996 - 24,729,226UniSTS
RH91145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,891,533 - 24,891,674UniSTSGRCh37
Build 36224,745,037 - 24,745,178RGDNCBI36
Celera224,732,392 - 24,732,533RGD
Cytogenetic Map2p23UniSTS
HuRef224,630,215 - 24,630,356UniSTS
GeneMap99-GB4 RH Map288.31UniSTS
RH101961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,821,394 - 24,821,521UniSTSGRCh37
Build 36224,674,898 - 24,675,025RGDNCBI36
Celera224,662,298 - 24,662,425RGD
Cytogenetic Map2p23UniSTS
HuRef224,559,944 - 24,560,071UniSTS
GeneMap99-GB4 RH Map288.1UniSTS
D2S2124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,891,592 - 24,891,719UniSTSGRCh37
Build 36224,745,096 - 24,745,223RGDNCBI36
Celera224,732,451 - 24,732,579RGD
Cytogenetic Map2p23UniSTS
HuRef224,630,274 - 24,630,402UniSTS
D2S2912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,890,568 - 24,890,711UniSTSGRCh37
Build 36224,744,072 - 24,744,215RGDNCBI36
Celera224,731,427 - 24,731,570RGD
Cytogenetic Map2p23UniSTS
HuRef224,629,250 - 24,629,393UniSTS
G09672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,888,729 - 24,888,914UniSTSGRCh37
Build 36224,742,233 - 24,742,418RGDNCBI36
Celera224,729,589 - 24,729,774RGD
Cytogenetic Map2p23UniSTS
HuRef224,627,412 - 24,627,597UniSTS
PMC170950P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,964,745 - 24,965,011UniSTSGRCh37
Build 36224,818,249 - 24,818,515RGDNCBI36
Celera224,805,613 - 24,805,879RGD
Cytogenetic Map2p23UniSTS
HuRef224,703,438 - 24,703,704UniSTS
WI-11298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,991,965 - 24,992,073UniSTSGRCh37
Build 36224,845,469 - 24,845,577RGDNCBI36
Celera224,832,276 - 24,832,384RGD
Cytogenetic Map2p23UniSTS
HuRef224,729,812 - 24,729,920UniSTS
GeneMap99-GB4 RH Map297.69UniSTS
Whitehead-RH Map2148.6UniSTS
NCBI RH Map2132.5UniSTS
D2S1969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,891,533 - 24,891,741UniSTSGRCh37
Build 36224,745,037 - 24,745,245RGDNCBI36
Celera224,732,392 - 24,732,601RGD
Cytogenetic Map2p23UniSTS
HuRef224,630,215 - 24,630,424UniSTS
Whitehead-YAC Contig Map2 UniSTS
STS-AA007451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37224,972,251 - 24,972,483UniSTSGRCh37
Build 36224,825,755 - 24,825,987RGDNCBI36
Celera224,813,117 - 24,813,349RGD
Cytogenetic Map2p23UniSTS
HuRef224,710,943 - 24,711,175UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2252 4971 1726 2351 6 622 1951 465 2269 7300 6469 53 3733 851 1742 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_147223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_147233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ000881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ000882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE675986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF975824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB047008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF660499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U59302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U90661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000288599   ⟹   ENSP00000288599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,584,477 - 24,770,702 (+)Ensembl
Ensembl Acc Id: ENST00000348332   ⟹   ENSP00000320940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,491,254 - 24,770,702 (+)Ensembl
Ensembl Acc Id: ENST00000395856   ⟹   ENSP00000379197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,584,541 - 24,770,702 (+)Ensembl
Ensembl Acc Id: ENST00000405141   ⟹   ENSP00000385097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,492,058 - 24,770,702 (+)Ensembl
Ensembl Acc Id: ENST00000406961   ⟹   ENSP00000385216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,491,932 - 24,770,702 (+)Ensembl
Ensembl Acc Id: ENST00000407230   ⟹   ENSP00000385195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,564,310 - 24,768,543 (+)Ensembl
Ensembl Acc Id: ENST00000469850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,492,023 - 24,584,484 (+)Ensembl
Ensembl Acc Id: ENST00000483904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,584,476 - 24,659,129 (+)Ensembl
Ensembl Acc Id: ENST00000486198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,707,727 - 24,711,483 (+)Ensembl
Ensembl Acc Id: ENST00000493773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,767,771 - 24,768,388 (+)Ensembl
Ensembl Acc Id: ENST00000496333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl224,491,914 - 24,644,055 (+)Ensembl
RefSeq Acc Id: NM_001362950   ⟹   NP_001349879
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,254 - 24,770,702 (+)NCBI
T2T-CHM13v2.0224,525,913 - 24,805,480 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001362952   ⟹   NP_001349881
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,877 - 24,770,702 (+)NCBI
T2T-CHM13v2.0224,526,574 - 24,805,480 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001362954   ⟹   NP_001349883
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,877 - 24,770,702 (+)NCBI
T2T-CHM13v2.0224,526,574 - 24,805,480 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001362955   ⟹   NP_001349884
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,877 - 24,770,702 (+)NCBI
T2T-CHM13v2.0224,526,574 - 24,805,480 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003743   ⟹   NP_003734
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,254 - 24,770,702 (+)NCBI
GRCh37224,714,919 - 24,993,571 (+)NCBI
Build 36224,660,850 - 24,847,075 (+)NCBI Archive
HuRef224,545,896 - 24,731,418 (+)ENTREZGENE
CHM1_1224,736,919 - 24,923,129 (+)NCBI
T2T-CHM13v2.0224,525,913 - 24,805,480 (+)NCBI
Sequence:
RefSeq Acc Id: NM_147223   ⟹   NP_671756
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,254 - 24,770,702 (+)NCBI
GRCh37224,714,919 - 24,993,571 (+)NCBI
Build 36224,660,850 - 24,847,075 (+)NCBI Archive
HuRef224,545,896 - 24,731,418 (+)ENTREZGENE
CHM1_1224,736,919 - 24,923,129 (+)NCBI
T2T-CHM13v2.0224,525,913 - 24,805,480 (+)NCBI
Sequence:
RefSeq Acc Id: NM_147233   ⟹   NP_671766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,584,477 - 24,770,702 (+)NCBI
GRCh37224,714,919 - 24,993,571 (+)NCBI
Build 36224,660,850 - 24,847,075 (+)NCBI Archive
HuRef224,545,896 - 24,731,418 (+)ENTREZGENE
CHM1_1224,736,919 - 24,923,129 (+)NCBI
T2T-CHM13v2.0224,619,287 - 24,805,480 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047446151   ⟹   XP_047302107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,254 - 24,770,702 (+)NCBI
RefSeq Acc Id: XM_047446152   ⟹   XP_047302108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,507,457 - 24,770,702 (+)NCBI
RefSeq Acc Id: XM_047446153   ⟹   XP_047302109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,495,117 - 24,770,702 (+)NCBI
RefSeq Acc Id: XM_047446154   ⟹   XP_047302110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,877 - 24,770,702 (+)NCBI
RefSeq Acc Id: XM_047446155   ⟹   XP_047302111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,254 - 24,770,702 (+)NCBI
RefSeq Acc Id: XM_047446156   ⟹   XP_047302112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,254 - 24,770,702 (+)NCBI
RefSeq Acc Id: XM_047446157   ⟹   XP_047302113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,254 - 24,770,702 (+)NCBI
RefSeq Acc Id: XM_047446158   ⟹   XP_047302114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,254 - 24,770,702 (+)NCBI
RefSeq Acc Id: XM_054344323   ⟹   XP_054200298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,526,199 - 24,805,480 (+)NCBI
RefSeq Acc Id: XM_054344324   ⟹   XP_054200299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,588,637 - 24,805,480 (+)NCBI
RefSeq Acc Id: XM_054344325   ⟹   XP_054200300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,526,574 - 24,805,480 (+)NCBI
RefSeq Acc Id: XM_054344326   ⟹   XP_054200301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,526,199 - 24,805,480 (+)NCBI
RefSeq Acc Id: XM_054344327   ⟹   XP_054200302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0224,619,287 - 24,805,480 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001349879 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349881 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349883 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349884 (Get FASTA)   NCBI Sequence Viewer  
  NP_003734 (Get FASTA)   NCBI Sequence Viewer  
  NP_671756 (Get FASTA)   NCBI Sequence Viewer  
  NP_671766 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302107 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302108 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302109 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302110 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302111 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302112 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302113 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302114 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200298 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200299 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200300 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200301 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200302 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA64187 (Get FASTA)   NCBI Sequence Viewer  
  AAB50242 (Get FASTA)   NCBI Sequence Viewer  
  AAC50305 (Get FASTA)   NCBI Sequence Viewer  
  AAC50631 (Get FASTA)   NCBI Sequence Viewer  
  AAI11534 (Get FASTA)   NCBI Sequence Viewer  
  AAI11535 (Get FASTA)   NCBI Sequence Viewer  
  AAX93184 (Get FASTA)   NCBI Sequence Viewer  
  ABS29266 (Get FASTA)   NCBI Sequence Viewer  
  BAF82708 (Get FASTA)   NCBI Sequence Viewer  
  CAA04371 (Get FASTA)   NCBI Sequence Viewer  
  CAA04372 (Get FASTA)   NCBI Sequence Viewer  
  EAX00746 (Get FASTA)   NCBI Sequence Viewer  
  EAX00747 (Get FASTA)   NCBI Sequence Viewer  
  EAX00748 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000288599
  ENSP00000288599.5
  ENSP00000320940
  ENSP00000320940.5
  ENSP00000379197
  ENSP00000379197.3
  ENSP00000385097
  ENSP00000385097.1
  ENSP00000385195
  ENSP00000385195.1
  ENSP00000385216.1
GenBank Protein Q15788 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_671756   ⟸   NM_147223
- Peptide Label: isoform 2
- UniProtKB: A8K1V4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003734   ⟸   NM_003743
- Peptide Label: isoform 1
- UniProtKB: Q6GVI5 (UniProtKB/Swiss-Prot),   Q53SX3 (UniProtKB/Swiss-Prot),   Q2T9G5 (UniProtKB/Swiss-Prot),   Q13420 (UniProtKB/Swiss-Prot),   Q13071 (UniProtKB/Swiss-Prot),   O43793 (UniProtKB/Swiss-Prot),   O43792 (UniProtKB/Swiss-Prot),   O00150 (UniProtKB/Swiss-Prot),   Q7KYV3 (UniProtKB/Swiss-Prot),   Q15788 (UniProtKB/Swiss-Prot),   A8K1V4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_671766   ⟸   NM_147233
- Peptide Label: isoform 3
- UniProtKB: A8K1V4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001349879   ⟸   NM_001362950
- Peptide Label: isoform 2
- UniProtKB: A8K1V4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001349884   ⟸   NM_001362955
- Peptide Label: isoform 2
- UniProtKB: A8K1V4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001349881   ⟸   NM_001362952
- Peptide Label: isoform 2
- UniProtKB: A8K1V4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001349883   ⟸   NM_001362954
- Peptide Label: isoform 2
- UniProtKB: A8K1V4 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000320940   ⟸   ENST00000348332
Ensembl Acc Id: ENSP00000385097   ⟸   ENST00000405141
Ensembl Acc Id: ENSP00000288599   ⟸   ENST00000288599
Ensembl Acc Id: ENSP00000385216   ⟸   ENST00000406961
Ensembl Acc Id: ENSP00000385195   ⟸   ENST00000407230
Ensembl Acc Id: ENSP00000379197   ⟸   ENST00000395856
RefSeq Acc Id: XP_047302111   ⟸   XM_047446155
- Peptide Label: isoform X1
- UniProtKB: Q6GVI5 (UniProtKB/Swiss-Prot),   Q53SX3 (UniProtKB/Swiss-Prot),   Q2T9G5 (UniProtKB/Swiss-Prot),   Q15788 (UniProtKB/Swiss-Prot),   Q13420 (UniProtKB/Swiss-Prot),   Q13071 (UniProtKB/Swiss-Prot),   O43793 (UniProtKB/Swiss-Prot),   O43792 (UniProtKB/Swiss-Prot),   O00150 (UniProtKB/Swiss-Prot),   Q7KYV3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047302112   ⟸   XM_047446156
- Peptide Label: isoform X1
- UniProtKB: Q6GVI5 (UniProtKB/Swiss-Prot),   Q53SX3 (UniProtKB/Swiss-Prot),   Q2T9G5 (UniProtKB/Swiss-Prot),   Q15788 (UniProtKB/Swiss-Prot),   Q13420 (UniProtKB/Swiss-Prot),   Q13071 (UniProtKB/Swiss-Prot),   O43793 (UniProtKB/Swiss-Prot),   O43792 (UniProtKB/Swiss-Prot),   O00150 (UniProtKB/Swiss-Prot),   Q7KYV3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047302107   ⟸   XM_047446151
- Peptide Label: isoform X1
- UniProtKB: Q6GVI5 (UniProtKB/Swiss-Prot),   Q53SX3 (UniProtKB/Swiss-Prot),   Q2T9G5 (UniProtKB/Swiss-Prot),   Q15788 (UniProtKB/Swiss-Prot),   Q13420 (UniProtKB/Swiss-Prot),   Q13071 (UniProtKB/Swiss-Prot),   O43793 (UniProtKB/Swiss-Prot),   O43792 (UniProtKB/Swiss-Prot),   O00150 (UniProtKB/Swiss-Prot),   Q7KYV3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047302113   ⟸   XM_047446157
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047302114   ⟸   XM_047446158
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047302110   ⟸   XM_047446154
- Peptide Label: isoform X1
- UniProtKB: Q6GVI5 (UniProtKB/Swiss-Prot),   Q53SX3 (UniProtKB/Swiss-Prot),   Q2T9G5 (UniProtKB/Swiss-Prot),   Q15788 (UniProtKB/Swiss-Prot),   Q13420 (UniProtKB/Swiss-Prot),   Q13071 (UniProtKB/Swiss-Prot),   O43793 (UniProtKB/Swiss-Prot),   O43792 (UniProtKB/Swiss-Prot),   O00150 (UniProtKB/Swiss-Prot),   Q7KYV3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047302109   ⟸   XM_047446153
- Peptide Label: isoform X1
- UniProtKB: Q6GVI5 (UniProtKB/Swiss-Prot),   Q53SX3 (UniProtKB/Swiss-Prot),   Q2T9G5 (UniProtKB/Swiss-Prot),   Q15788 (UniProtKB/Swiss-Prot),   Q13420 (UniProtKB/Swiss-Prot),   Q13071 (UniProtKB/Swiss-Prot),   O43793 (UniProtKB/Swiss-Prot),   O43792 (UniProtKB/Swiss-Prot),   O00150 (UniProtKB/Swiss-Prot),   Q7KYV3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047302108   ⟸   XM_047446152
- Peptide Label: isoform X1
- UniProtKB: Q6GVI5 (UniProtKB/Swiss-Prot),   Q53SX3 (UniProtKB/Swiss-Prot),   Q2T9G5 (UniProtKB/Swiss-Prot),   Q15788 (UniProtKB/Swiss-Prot),   Q13420 (UniProtKB/Swiss-Prot),   Q13071 (UniProtKB/Swiss-Prot),   O43793 (UniProtKB/Swiss-Prot),   O43792 (UniProtKB/Swiss-Prot),   O00150 (UniProtKB/Swiss-Prot),   Q7KYV3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200301   ⟸   XM_054344326
- Peptide Label: isoform X1
- UniProtKB: Q7KYV3 (UniProtKB/Swiss-Prot),   Q6GVI5 (UniProtKB/Swiss-Prot),   Q53SX3 (UniProtKB/Swiss-Prot),   Q2T9G5 (UniProtKB/Swiss-Prot),   Q15788 (UniProtKB/Swiss-Prot),   Q13420 (UniProtKB/Swiss-Prot),   Q13071 (UniProtKB/Swiss-Prot),   O43793 (UniProtKB/Swiss-Prot),   O43792 (UniProtKB/Swiss-Prot),   O00150 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200298   ⟸   XM_054344323
- Peptide Label: isoform X1
- UniProtKB: Q7KYV3 (UniProtKB/Swiss-Prot),   Q6GVI5 (UniProtKB/Swiss-Prot),   Q53SX3 (UniProtKB/Swiss-Prot),   Q2T9G5 (UniProtKB/Swiss-Prot),   Q15788 (UniProtKB/Swiss-Prot),   Q13420 (UniProtKB/Swiss-Prot),   Q13071 (UniProtKB/Swiss-Prot),   O43793 (UniProtKB/Swiss-Prot),   O43792 (UniProtKB/Swiss-Prot),   O00150 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200300   ⟸   XM_054344325
- Peptide Label: isoform X1
- UniProtKB: Q7KYV3 (UniProtKB/Swiss-Prot),   Q6GVI5 (UniProtKB/Swiss-Prot),   Q53SX3 (UniProtKB/Swiss-Prot),   Q2T9G5 (UniProtKB/Swiss-Prot),   Q15788 (UniProtKB/Swiss-Prot),   Q13420 (UniProtKB/Swiss-Prot),   Q13071 (UniProtKB/Swiss-Prot),   O43793 (UniProtKB/Swiss-Prot),   O43792 (UniProtKB/Swiss-Prot),   O00150 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200299   ⟸   XM_054344324
- Peptide Label: isoform X1
- UniProtKB: Q7KYV3 (UniProtKB/Swiss-Prot),   Q6GVI5 (UniProtKB/Swiss-Prot),   Q53SX3 (UniProtKB/Swiss-Prot),   Q2T9G5 (UniProtKB/Swiss-Prot),   Q15788 (UniProtKB/Swiss-Prot),   Q13420 (UniProtKB/Swiss-Prot),   Q13071 (UniProtKB/Swiss-Prot),   O43793 (UniProtKB/Swiss-Prot),   O00150 (UniProtKB/Swiss-Prot),   O43792 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200302   ⟸   XM_054344327
- Peptide Label: isoform X3
Protein Domains
bHLH   DUF1518   PAS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15788-F1-model_v2 AlphaFold Q15788 1-1441 view protein structure

Promoters
RGD ID:6859782
Promoter ID:EPDNEW_H3055
Type:initiation region
Name:NCOA1_1
Description:nuclear receptor coactivator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3056  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,273 - 24,491,333EPDNEW
RGD ID:6859784
Promoter ID:EPDNEW_H3056
Type:initiation region
Name:NCOA1_2
Description:nuclear receptor coactivator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3055  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38224,491,523 - 24,491,583EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7668 AgrOrtholog
COSMIC NCOA1 COSMIC
Ensembl Genes ENSG00000084676 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000288599 ENTREZGENE
  ENST00000288599.9 UniProtKB/Swiss-Prot
  ENST00000348332 ENTREZGENE
  ENST00000348332.8 UniProtKB/Swiss-Prot
  ENST00000395856 ENTREZGENE
  ENST00000395856.3 UniProtKB/Swiss-Prot
  ENST00000405141 ENTREZGENE
  ENST00000405141.5 UniProtKB/Swiss-Prot
  ENST00000406961.5 UniProtKB/Swiss-Prot
  ENST00000407230 ENTREZGENE
  ENST00000407230.5 UniProtKB/TrEMBL
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot
  6.10.140.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helix-loop-helix DNA-binding domain UniProtKB/TrEMBL
  PAS domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000084676 GTEx
HGNC ID HGNC:7668 ENTREZGENE
Human Proteome Map NCOA1 Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1518 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NCOA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuc_rcpt_coact UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuc_rcpt_coact_Ncoa-typ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuc_rcpt_coact_Ncoa_int_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuclear_rcpt_coactivator UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRC/p160_LXXLL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8648 UniProtKB/Swiss-Prot
NCBI Gene 8648 ENTREZGENE
OMIM 602691 OMIM
PANTHER PTHR10684 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10684:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF1518 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NCOA_u2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuc_rec_co-act UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS_11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRC-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31470 PharmGKB
PIRSF Nuclear_receptor_coactivator UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BHLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DUF1518 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP HLH, helix-loop-helix DNA-binding domain UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  SSF55785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF69125 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K1V4 ENTREZGENE, UniProtKB/TrEMBL
  B5MCN7_HUMAN UniProtKB/TrEMBL
  NCOA1_HUMAN UniProtKB/Swiss-Prot
  O00150 ENTREZGENE
  O43792 ENTREZGENE
  O43793 ENTREZGENE
  Q13071 ENTREZGENE
  Q13420 ENTREZGENE
  Q15788 ENTREZGENE
  Q2T9G5 ENTREZGENE
  Q53SX3 ENTREZGENE
  Q6GVI5 ENTREZGENE
  Q7KYV3 ENTREZGENE
UniProt Secondary O00150 UniProtKB/Swiss-Prot
  O43792 UniProtKB/Swiss-Prot
  O43793 UniProtKB/Swiss-Prot
  Q13071 UniProtKB/Swiss-Prot
  Q13420 UniProtKB/Swiss-Prot
  Q2T9G5 UniProtKB/Swiss-Prot
  Q53SX3 UniProtKB/Swiss-Prot
  Q6GVI5 UniProtKB/Swiss-Prot
  Q7KYV3 UniProtKB/Swiss-Prot