ADD1 (adducin 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: ADD1 (adducin 1) Homo sapiens
Analyze
Symbol: ADD1
Name: adducin 1
RGD ID: 733925
HGNC Page HGNC:243
Description: Enables RNA polymerase II-specific DNA-binding transcription factor binding activity; cytoskeletal protein binding activity; and protein dimerization activity. Involved in several processes, including barbed-end actin filament capping; positive regulation of adherens junction organization; and positive regulation of establishment of endothelial barrier. Located in several cellular components, including adherens junction; nuclear body; and plasma membrane. Part of F-actin capping protein complex. Implicated in IgA glomerulonephritis; artery disease (multiple); familial combined hyperlipidemia; and gastroschisis. Biomarker of pre-eclampsia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADDA; adducin 1 (alpha); adducin 1, alpha; alpha-adducin; alpha-adducin 1; erythrocyte adducin alpha subunit; erythrocyte adducin subunit alpha; MGC3339; MGC44427
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
GRCh3842,843,844 - 2,930,062 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl42,843,844 - 2,930,076 (+)EnsemblGRCh38hg38GRCh38
GRCh3742,845,571 - 2,931,789 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3642,815,382 - 2,901,587 (+)NCBINCBI36Build 36hg18NCBI36
Build 3442,882,589 - 2,968,794NCBI
Celera42,756,785 - 2,842,980 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef42,784,038 - 2,870,206 (+)NCBIHuRef
CHM1_142,843,557 - 2,929,744 (+)NCBICHM1_1
T2T-CHM13v2.042,842,299 - 2,928,525 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
alpha-pinene  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
asbestos  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
C60 fullerene  (ISO)
caffeine  (EXP)
chlorpyrifos  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
disodium selenite  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
finasteride  (ISO)
flutamide  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
hexadecanoic acid  (EXP)
hydrogen cyanide  (ISO)
ivermectin  (EXP)
L-ethionine  (ISO)
lead(0)  (EXP)
lycopene  (EXP)
methotrexate  (EXP)
methylmercury(1+)  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
omeprazole  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
pirinixic acid  (ISO)
potassium cyanide  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
pyrethrins  (ISO)
pyrogallol  (ISO)
quercetin  (EXP)
sarin  (EXP)
selenium atom  (EXP)
sodium arsenite  (ISO)
sulindac  (ISO)
testosterone  (ISO)
thioacetamide  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. Association between the alpha-adducin Gly460Trp polymorphism and systolic blood pressure in familial combined hyperlipidemia. Beeks E, etal., Am J Hypertens. 2001 Dec;14(12):1185-90.
3. Single nucleotide polymorphisms in genes of circulatory homeostasis in surviving pediatric intensive care patients with meningococcal infection. Bunker-Wiersma HE, etal., Pediatr Crit Care Med. 2008 Sep;9(5):517-23.
4. Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension. Cusi D, etal., Lancet. 1997 May 10;349(9062):1353-7.
5. Gene expression in chorionic villous samples at 11 weeks of gestation in women who develop preeclampsia later in pregnancy: implications for screening. Farina A, etal., Prenat Diagn. 2009 Nov;29(11):1038-44.
6. alpha- and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy. Ferrandi M, etal., J Mol Med (Berl). 2010 Feb;88(2):203-17. Epub 2009 Oct 17.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Primary structure and domain organization of human alpha and beta adducin. Joshi R, etal., J Cell Biol 1991 Nov;115(3):665-75.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes. Shaw GM, etal., Am J Med Genet A. 2005 Sep 15;138(1):21-6.
12. Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis. Torfs CP, etal., Birth Defects Res A Clin Mol Teratol. 2006 Oct;76(10):723-30.
13. Effect of Add1 gene transfer on blood pressure in reciprocal congenic strains of Milan rats. Tripodi G, etal., Biochem Biophys Res Commun 2004 Nov 12;324(2):562-8.
14. Characterisation and chromosomal localisation of the rat alpha- and beta-adducin-encoding genes. Tripodi G, etal., Gene 1995 Dec 12;166(2):307-11.
15. Alpha-adducin polymorphism, atherosclerosis, and cardiovascular and cerebrovascular risk. van Rijn MJ, etal., Stroke. 2006 Dec;37(12):2930-4. Epub 2006 Nov 2.
16. Kainate-induced seizures alter protein composition and N-methyl-D-aspartate receptor function of rat forebrain postsynaptic densities. Wyneken U, etal., Neuroscience. 2001;102(1):65-74.
17. Multi-locus candidate gene polymorphisms and risk of myocardial infarction: a population-based, prospective genetic analysis. Zee RY, etal., J Thromb Haemost. 2006 Feb;4(2):341-8.
Additional References at PubMed
PMID:1284592   PMID:1345173   PMID:2976282   PMID:3600811   PMID:3693401   PMID:7490111   PMID:7642559   PMID:7774961   PMID:7959767   PMID:8626479   PMID:8663089   PMID:8810272  
PMID:8889548   PMID:8946164   PMID:9674650   PMID:9679146   PMID:10209029   PMID:10391210   PMID:10516168   PMID:10585876   PMID:10823823   PMID:10950304   PMID:11110979   PMID:11116113  
PMID:11283377   PMID:11447495   PMID:11518842   PMID:11528213   PMID:11711521   PMID:11728946   PMID:11847182   PMID:11882573   PMID:11918733   PMID:11918988   PMID:11926892   PMID:12052841  
PMID:12082592   PMID:12107246   PMID:12107410   PMID:12172317   PMID:12195118   PMID:12195119   PMID:12394950   PMID:12427140   PMID:12477932   PMID:12623934   PMID:12697976   PMID:12885793  
PMID:13679477   PMID:14508192   PMID:14530292   PMID:14553962   PMID:14643575   PMID:14733918   PMID:15039125   PMID:15055253   PMID:15059531   PMID:15097233   PMID:15110895   PMID:15187197  
PMID:15302935   PMID:15326084   PMID:15378162   PMID:15493144   PMID:15554870   PMID:15608390   PMID:15716695   PMID:15773232   PMID:15815621   PMID:15822905   PMID:15824464   PMID:15834281  
PMID:15910744   PMID:16043664   PMID:16080807   PMID:16266470   PMID:16289097   PMID:16314886   PMID:16392768   PMID:16450155   PMID:16497648   PMID:16531798   PMID:16612256   PMID:16615274  
PMID:16702981   PMID:16724011   PMID:16970091   PMID:17003363   PMID:17081983   PMID:17083073   PMID:17189961   PMID:17215849   PMID:17267840   PMID:17301826   PMID:17452507   PMID:17472579  
PMID:17765140   PMID:17825147   PMID:17921817   PMID:17984662   PMID:18003973   PMID:18393230   PMID:18398333   PMID:18413308   PMID:18458162   PMID:18475162   PMID:18513389   PMID:18524856  
PMID:18591455   PMID:18657677   PMID:18660489   PMID:18667944   PMID:18787518   PMID:18800139   PMID:18977990   PMID:19047752   PMID:19057513   PMID:19103106   PMID:19131662   PMID:19145769  
PMID:19145770   PMID:19148102   PMID:19166692   PMID:19199261   PMID:19238444   PMID:19242491   PMID:19243623   PMID:19247266   PMID:19263529   PMID:19274077   PMID:19443911   PMID:19479237  
PMID:19559392   PMID:19567882   PMID:19574959   PMID:19620885   PMID:19729965   PMID:19779330   PMID:19779464   PMID:19913121   PMID:19960031   PMID:20145305   PMID:20160191   PMID:20237496  
PMID:20473689   PMID:20536507   PMID:20565774   PMID:20577119   PMID:20628086   PMID:20667857   PMID:20810786   PMID:20838486   PMID:20877298   PMID:20927398   PMID:20929695   PMID:21194526  
PMID:21228790   PMID:21339657   PMID:21364877   PMID:21423176   PMID:21736685   PMID:21873635   PMID:21900206   PMID:22117679   PMID:22163289   PMID:22197999   PMID:22198647   PMID:22272309  
PMID:22307086   PMID:22476228   PMID:22658674   PMID:22677360   PMID:22678362   PMID:22810272   PMID:23284854   PMID:23383273   PMID:23509723   PMID:23540412   PMID:23691048   PMID:23863317  
PMID:23985264   PMID:24332808   PMID:24379415   PMID:24705354   PMID:24711455   PMID:24718403   PMID:25262176   PMID:25344630   PMID:25416956   PMID:25468996   PMID:25567773   PMID:25693804  
PMID:25816007   PMID:25921289   PMID:25978380   PMID:26042478   PMID:26186194   PMID:26209609   PMID:26279304   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26673895   PMID:27340988  
PMID:27349000   PMID:27684187   PMID:28040068   PMID:28514442   PMID:28686109   PMID:29028685   PMID:29049185   PMID:29117863   PMID:29128334   PMID:29212245   PMID:29509190   PMID:29568061  
PMID:29844126   PMID:29925526   PMID:30062972   PMID:30442766   PMID:30463901   PMID:30552709   PMID:30890647   PMID:31091453   PMID:31732153   PMID:31871319   PMID:31943323   PMID:32176739  
PMID:32235678   PMID:32237935   PMID:32296183   PMID:32513696   PMID:32707033   PMID:32807901   PMID:32814053   PMID:32971583   PMID:33022573   PMID:33239621   PMID:33916271   PMID:33957083  
PMID:33961781   PMID:34011540   PMID:34079125   PMID:34244482   PMID:34315543   PMID:34672954   PMID:34859687   PMID:34917906   PMID:35063084   PMID:35241646   PMID:35256949   PMID:35271311  
PMID:35439318   PMID:35446349   PMID:35676659   PMID:35776542   PMID:35831314   PMID:35833506   PMID:35844135   PMID:35944360   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36490346  
PMID:36526897   PMID:36779422   PMID:36976175   PMID:37616343   PMID:37827155   PMID:38117590   PMID:38280479   PMID:38891874  


Genomics

Comparative Map Data
ADD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3842,843,844 - 2,930,062 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl42,843,844 - 2,930,076 (+)EnsemblGRCh38hg38GRCh38
GRCh3742,845,571 - 2,931,789 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3642,815,382 - 2,901,587 (+)NCBINCBI36Build 36hg18NCBI36
Build 3442,882,589 - 2,968,794NCBI
Celera42,756,785 - 2,842,980 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef42,784,038 - 2,870,206 (+)NCBIHuRef
CHM1_142,843,557 - 2,929,744 (+)NCBICHM1_1
T2T-CHM13v2.042,842,299 - 2,928,525 (+)NCBIT2T-CHM13v2.0
Add1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39534,731,008 - 34,789,652 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl534,731,008 - 34,789,652 (+)EnsemblGRCm39 Ensembl
GRCm38534,573,664 - 34,632,308 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl534,573,664 - 34,632,308 (+)EnsemblGRCm38mm10GRCm38
MGSCv37534,916,363 - 34,974,954 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36534,890,669 - 34,949,165 (+)NCBIMGSCv36mm8
Celera532,044,658 - 32,103,240 (+)NCBICelera
Cytogenetic Map5B2NCBI
cM Map517.9NCBI
Add1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81480,333,242 - 80,401,641 (-)NCBIGRCr8
mRatBN7.21476,108,643 - 76,167,267 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1476,108,654 - 76,167,182 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1480,561,417 - 80,619,806 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01481,802,070 - 81,860,453 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01478,247,298 - 78,305,694 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01481,367,466 - 81,426,610 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1481,367,468 - 81,426,496 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01482,054,922 - 82,114,066 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41481,750,430 - 81,808,919 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11481,754,353 - 81,784,555 (-)NCBI
Celera1475,033,169 - 75,091,638 (-)NCBICelera
Cytogenetic Map14q21NCBI
Add1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555141,783,814 - 1,815,917 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555141,784,302 - 1,812,845 (+)NCBIChiLan1.0ChiLan1.0
ADD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v233,179,400 - 3,265,706 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan143,115,339 - 3,201,629 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v042,986,301 - 3,072,590 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.142,889,073 - 2,975,012 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl42,920,781 - 2,975,012 (+)Ensemblpanpan1.1panPan2
ADD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1361,356,643 - 61,443,851 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl361,358,162 - 61,474,830 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha363,940,255 - 64,027,099 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0361,832,145 - 61,919,366 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl361,832,162 - 61,919,940 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1361,323,682 - 61,410,615 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0361,528,369 - 61,615,629 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0361,887,972 - 61,975,241 (-)NCBIUU_Cfam_GSD_1.0
Add1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528566,993,417 - 67,064,321 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647720,691,951 - 20,766,152 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647720,695,109 - 20,766,053 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl81,627,062 - 1,710,650 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.181,627,146 - 1,710,653 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.281,208,520 - 1,292,568 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12745,811,611 - 45,901,277 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2745,813,496 - 45,900,778 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660512,167,948 - 2,256,880 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Add1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475524,854,742 - 24,928,006 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475524,854,742 - 24,927,912 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADD1
48 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp) single nucleotide variant Hypertension, salt-sensitive essential, susceptibility to [RCV000019936]|hydrochlorothiazide response - Efficacy [RCV001787814] Chr4:2904980 [GRCh38]
Chr4:2906707 [GRCh37]
Chr4:4p16.3		 risk factor|drug response
GRCh38/hg38 4p16.3(chr4:620566-2958209)x3 copy number gain See cases [RCV000050834] Chr4:620566..2958209 [GRCh38]
Chr4:614355..2959936 [GRCh37]
Chr4:604355..2929734 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807] Chr4:1676799..5212384 [GRCh38]
Chr4:1678526..5214111 [GRCh37]
Chr4:1648324..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 copy number loss See cases [RCV000051645] Chr4:72555..3206313 [GRCh38]
Chr4:72447..3208040 [GRCh37]
Chr4:62447..3177838 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|See cases [RCV000051646] Chr4:72555..3460958 [GRCh38]
Chr4:72447..3462685 [GRCh37]
Chr4:62447..3432483 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|See cases [RCV000053396] Chr4:1598653..4722090 [GRCh38]
Chr4:1600380..4723817 [GRCh37]
Chr4:1570340..4774718 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 copy number loss See cases [RCV000135317] Chr4:78578..3363219 [GRCh38]
Chr4:78470..3364946 [GRCh37]
Chr4:68470..3334744 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 copy number loss See cases [RCV000136930] Chr4:72555..3724047 [GRCh38]
Chr4:72447..3725774 [GRCh37]
Chr4:62447..3695572 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 copy number loss See cases [RCV000136730] Chr4:72555..3561655 [GRCh38]
Chr4:72447..3563382 [GRCh37]
Chr4:62447..3533180 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3 copy number gain See cases [RCV000138129] Chr4:2019774..3881330 [GRCh38]
Chr4:2021501..3883057 [GRCh37]
Chr4:1991299..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 copy number loss See cases [RCV000139019] Chr4:36424..3265531 [GRCh38]
Chr4:36424..3267258 [GRCh37]
Chr4:26424..3237056 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1 copy number loss See cases [RCV000141940] Chr4:1964539..5912172 [GRCh38]
Chr4:1966266..5913899 [GRCh37]
Chr4:1936064..5964800 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1 copy number loss See cases [RCV000142330] Chr4:2007739..3078685 [GRCh38]
Chr4:2009466..3080412 [GRCh37]
Chr4:1979264..3050210 [NCBI36]
Chr4:4p16.3		 likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3 copy number gain See cases [RCV000512063] Chr4:68345..3713599 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 copy number loss See cases [RCV000510596] Chr4:68345..4044985 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_001354761.2(ADD1):c.529C>G (p.Gln177Glu) single nucleotide variant not specified [RCV004323092] Chr4:2894031 [GRCh38]
Chr4:2895758 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1108T>C (p.Trp370Arg) single nucleotide variant not specified [RCV004302290] Chr4:2899382 [GRCh38]
Chr4:2901109 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:1998507-2986076)x3 copy number gain not provided [RCV000682369] Chr4:1998507..2986076 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1 copy number loss not provided [RCV000682370] Chr4:2364201..5447465 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:2730654-3265710)x3 copy number gain not provided [RCV000682371] Chr4:2730654..3265710 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:2175733-2917646)x1 copy number loss not provided [RCV000743221] Chr4:2175733..2917646 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_001354761.2(ADD1):c.702G>A (p.Val234=) single nucleotide variant not provided [RCV000972712] Chr4:2894692 [GRCh38]
Chr4:2896419 [GRCh37]
Chr4:4p16.3		 benign
NM_001354761.2(ADD1):c.1632C>T (p.Asp544=) single nucleotide variant not provided [RCV000906826] Chr4:2908538 [GRCh38]
Chr4:2910265 [GRCh37]
Chr4:4p16.3		 benign
NM_001354761.2(ADD1):c.1675G>A (p.Val559Met) single nucleotide variant not provided [RCV000881871] Chr4:2908581 [GRCh38]
Chr4:2910308 [GRCh37]
Chr4:4p16.3		 benign
NM_001354761.2(ADD1):c.75C>T (p.Phe25=) single nucleotide variant not provided [RCV000936534] Chr4:2875990 [GRCh38]
Chr4:2877717 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3 copy number gain not provided [RCV000847002] Chr4:68345..4051616 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:2906452-3200275)x3 copy number gain not provided [RCV000846793] Chr4:2906452..3200275 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.45G>T (p.Pro15=) single nucleotide variant not provided [RCV000973080] Chr4:2875960 [GRCh38]
Chr4:2877687 [GRCh37]
Chr4:4p16.3		 benign
NM_001354761.2(ADD1):c.837T>C (p.Asp279=) single nucleotide variant not provided [RCV000973081] Chr4:2898279 [GRCh38]
Chr4:2900006 [GRCh37]
Chr4:4p16.3		 benign
NM_001354761.2(ADD1):c.1194T>A (p.Pro398=) single nucleotide variant not provided [RCV000973082] Chr4:2904796 [GRCh38]
Chr4:2906523 [GRCh37]
Chr4:4p16.3		 benign
NM_001354761.2(ADD1):c.1362C>T (p.Asp454=) single nucleotide variant not provided [RCV000973083] Chr4:2904964 [GRCh38]
Chr4:2906691 [GRCh37]
Chr4:4p16.3		 benign
NM_001354761.2(ADD1):c.1152C>T (p.Leu384=) single nucleotide variant not provided [RCV000910434] Chr4:2899426 [GRCh38]
Chr4:2901153 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3(chr4:963688-2913553)x3 copy number gain not provided [RCV002473933] Chr4:963688..2913553 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_001354761.2(ADD1):c.1A>G (p.Met1Val) single nucleotide variant Tracheoesophageal fistula [RCV001172284] Chr4:2875916 [GRCh38]
Chr4:2877643 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516) copy number loss microdeletion 4p16.3p16.1 [RCV001255691] Chr4:2909440..6871516 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1 copy number loss not provided [RCV001258633] Chr4:1941633..3879802 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:388344-3872380) copy number loss Fetal growth restriction [RCV001352672] Chr4:388344..3872380 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_2200251)_(5710240_?)del deletion Ellis-van Creveld syndrome [RCV001386270] Chr4:2200251..5710240 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:2930651-3362806)x3 copy number gain not provided [RCV001829170] Chr4:2930651..3362806 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NC_000004.11:g.(?_493125)_(3495228_?)del deletion Fibrous dysplasia of jaw [RCV001943824] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_2822345)_(3495228_?)dup duplication not provided [RCV001877626] Chr4:2822345..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(2886413_?)del deletion Mucopolysaccharidosis type 1 [RCV001960721] Chr4:493125..2886413 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_493125)_(3495228_?)dup duplication Fibrous dysplasia of jaw [RCV003113187] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1 copy number loss See cases [RCV002286339] Chr4:68345..5579467 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p16.3(chr4:2906453-3225478)x3 copy number gain not provided [RCV002473693] Chr4:2906453..3225478 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_001354761.2(ADD1):c.691C>T (p.Arg231Cys) single nucleotide variant not specified [RCV004104279] Chr4:2894681 [GRCh38]
Chr4:2896408 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1060C>T (p.Arg354Cys) single nucleotide variant not specified [RCV004091973] Chr4:2899334 [GRCh38]
Chr4:2901061 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:2619318-2849268)x3 copy number gain not provided [RCV002475650] Chr4:2619318..2849268 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.302A>G (p.Asn101Ser) single nucleotide variant not specified [RCV004224534] Chr4:2882004 [GRCh38]
Chr4:2883731 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.98C>T (p.Pro33Leu) single nucleotide variant not specified [RCV004078326] Chr4:2876013 [GRCh38]
Chr4:2877740 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1225G>A (p.Asp409Asn) single nucleotide variant not specified [RCV004116295] Chr4:2904827 [GRCh38]
Chr4:2906554 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.526G>A (p.Glu176Lys) single nucleotide variant not specified [RCV004185404] Chr4:2894028 [GRCh38]
Chr4:2895755 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.506T>C (p.Ile169Thr) single nucleotide variant not specified [RCV004145914] Chr4:2884662 [GRCh38]
Chr4:2886389 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1633A>G (p.Ile545Val) single nucleotide variant not specified [RCV004214748] Chr4:2908539 [GRCh38]
Chr4:2910266 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.695C>T (p.Pro232Leu) single nucleotide variant not specified [RCV004142581] Chr4:2894685 [GRCh38]
Chr4:2896412 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1403C>T (p.Ser468Leu) single nucleotide variant not specified [RCV004147161] Chr4:2905005 [GRCh38]
Chr4:2906732 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.410C>T (p.Ala137Val) single nucleotide variant not specified [RCV004282716] Chr4:2884566 [GRCh38]
Chr4:2886293 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1912C>T (p.Arg638Cys) single nucleotide variant not specified [RCV004257165] Chr4:2915004 [GRCh38]
Chr4:2916731 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.28G>A (p.Val10Met) single nucleotide variant not specified [RCV004261419] Chr4:2875943 [GRCh38]
Chr4:2877670 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.772A>G (p.Ile258Val) single nucleotide variant not specified [RCV004260871] Chr4:2898214 [GRCh38]
Chr4:2899941 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1295C>G (p.Pro432Arg) single nucleotide variant not specified [RCV004271496] Chr4:2904897 [GRCh38]
Chr4:2906624 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.80G>T (p.Arg27Leu) single nucleotide variant not specified [RCV004333785] Chr4:2875995 [GRCh38]
Chr4:2877722 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
NM_001354761.2(ADD1):c.36A>C (p.Ser12=) single nucleotide variant not provided [RCV003334263] Chr4:2875951 [GRCh38]
Chr4:2877678 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_001354761.2(ADD1):c.1690C>T (p.Leu564Phe) single nucleotide variant not specified [RCV004340644] Chr4:2908596 [GRCh38]
Chr4:2910323 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 copy number gain not provided [RCV003484164] Chr4:68346..7171784 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:2841240-3197933)x3 copy number gain not provided [RCV003484168] Chr4:2841240..3197933 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3510024)x1 copy number loss not specified [RCV003986499] Chr4:68345..3510024 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 copy number loss not specified [RCV003986500] Chr4:68345..7923907 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1 copy number loss not specified [RCV003986508] Chr4:68345..4611819 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:68346-3122209)x1 copy number loss not specified [RCV003986538] Chr4:68346..3122209 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_001354761.2(ADD1):c.500A>G (p.Asn167Ser) single nucleotide variant not specified [RCV004376019] Chr4:2884656 [GRCh38]
Chr4:2886383 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.709G>A (p.Val237Ile) single nucleotide variant not specified [RCV004376044] Chr4:2894699 [GRCh38]
Chr4:2896426 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001354761.2(ADD1):c.928A>T (p.Ser310Cys) single nucleotide variant not specified [RCV004376054] Chr4:2898475 [GRCh38]
Chr4:2900202 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1087G>T (p.Gly363Cys) single nucleotide variant not specified [RCV004375969] Chr4:2899361 [GRCh38]
Chr4:2901088 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1096T>C (p.Ser366Pro) single nucleotide variant not specified [RCV004375972] Chr4:2899370 [GRCh38]
Chr4:2901097 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1273G>A (p.Gly425Ser) single nucleotide variant not specified [RCV004375979] Chr4:2904875 [GRCh38]
Chr4:2906602 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.2047+541G>T single nucleotide variant not specified [RCV004376007] Chr4:2926653 [GRCh38]
Chr4:2928380 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1960G>A (p.Glu654Lys) single nucleotide variant not specified [RCV004375999] Chr4:2926025 [GRCh38]
Chr4:2927752 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1967G>A (p.Arg656Lys) single nucleotide variant not specified [RCV004376001] Chr4:2926032 [GRCh38]
Chr4:2927759 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.2003C>T (p.Ala668Val) single nucleotide variant not specified [RCV004376004] Chr4:2926068 [GRCh38]
Chr4:2927795 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.129A>G (p.Pro43=) single nucleotide variant ADD1-related disorder [RCV003897236] Chr4:2876044 [GRCh38]
Chr4:2877771 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001354761.2(ADD1):c.950A>C (p.Tyr317Ser) single nucleotide variant not specified [RCV004376055] Chr4:2898497 [GRCh38]
Chr4:2900224 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_2357152)_(15176083_?)del deletion not provided [RCV004580846] Chr4:2357152..15176083 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_001354761.2(ADD1):c.814G>A (p.Asp272Asn) single nucleotide variant not specified [RCV004613718] Chr4:2898256 [GRCh38]
Chr4:2899983 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_2822345)_(3495228_?)del deletion Fetal akinesia deformation sequence 1 [RCV004580768] Chr4:2822345..3495228 [GRCh37]
Chr4:4p16.3		 pathogenic
NC_000004.11:g.(?_1795662)_(3495228_?)dup duplication not provided [RCV004580808] Chr4:1795662..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_1795662)_(3495228_?)del deletion not provided [RCV004580832] Chr4:1795662..3495228 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001354761.2(ADD1):c.2017C>T (p.Pro673Ser) single nucleotide variant not specified [RCV004613667] Chr4:2926082 [GRCh38]
Chr4:2927809 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.544A>T (p.Ile182Phe) single nucleotide variant not specified [RCV004613689] Chr4:2894046 [GRCh38]
Chr4:2895773 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1841C>T (p.Pro614Leu) single nucleotide variant not specified [RCV004613707] Chr4:2914933 [GRCh38]
Chr4:2916660 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1846G>A (p.Val616Ile) single nucleotide variant not specified [RCV004613729] Chr4:2914938 [GRCh38]
Chr4:2916665 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1325G>A (p.Arg442Gln) single nucleotide variant not specified [RCV004613735] Chr4:2904927 [GRCh38]
Chr4:2906654 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1390A>G (p.Ser464Gly) single nucleotide variant not specified [RCV004613678] Chr4:2904992 [GRCh38]
Chr4:2906719 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001354761.2(ADD1):c.1372G>A (p.Glu458Lys) single nucleotide variant not specified [RCV004613700] Chr4:2904974 [GRCh38]
Chr4:2906701 [GRCh37]
Chr4:4p16.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10437
Count of miRNA genes:1244
Interacting mature miRNAs:1622
Transcripts:ENST00000264758, ENST00000355842, ENST00000374281, ENST00000398123, ENST00000398125, ENST00000398129, ENST00000446856, ENST00000503062, ENST00000503169, ENST00000503455, ENST00000506157, ENST00000508277, ENST00000508684, ENST00000509039, ENST00000510101, ENST00000511797, ENST00000513328, ENST00000513762, ENST00000514940, ENST00000534870, ENST00000536078, ENST00000536424, ENST00000538860, ENST00000539108, ENST00000539149, ENST00000540541, ENST00000541051, ENST00000541843
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
407121730GWAS770706_Hsmoking initiation QTL GWAS770706 (human)2e-09smoking initiation428795292879530Human
406996997GWAS645973_Hcups of coffee per day measurement QTL GWAS645973 (human)3e-10cups of coffee per day measurement428450722845073Human
406944198GWAS593174_Hbody mass index QTL GWAS593174 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)428593632859364Human
406928134GWAS577110_Hdiastolic blood pressure, systolic blood pressure QTL GWAS577110 (human)0.0000005diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)428977112897712Human
407036875GWAS685851_Hmonocyte percentage of leukocytes QTL GWAS685851 (human)1e-10monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)428867142886715Human
406993096GWAS642072_Hage at initiation of smoking QTL GWAS642072 (human)4e-13age at initiation of smoking428674002867401Human
407042824GWAS691800_Hcigarettes per day measurement QTL GWAS691800 (human)1e-14cigarettes per day measurement429152042915205Human
407190478GWAS839454_Hcorpus callosum volume measurement QTL GWAS839454 (human)4e-08corpus callosum volume measurement429001242900125Human
407042825GWAS691801_Hcigarettes per day measurement QTL GWAS691801 (human)3e-15cigarettes per day measurement429159192915920Human
407003470GWAS652446_HParkinson disease QTL GWAS652446 (human)0.0000003Parkinson disease428474412847442Human
407054860GWAS703836_Hhousehold income QTL GWAS703836 (human)1e-08household income429179312917932Human
406997904GWAS646880_Hbiological sex QTL GWAS646880 (human)2e-09biological sex428835882883589Human
406947922GWAS596898_Heducational attainment QTL GWAS596898 (human)5e-29educational attainment429192102919211Human
407333715GWAS982691_Htriglyceride measurement QTL GWAS982691 (human)2e-16triglyceride measurementblood triglyceride level (CMO:0000118)428868952886896Human
407120018GWAS768994_Hsmoking initiation QTL GWAS768994 (human)7e-13smoking initiation428795292879530Human
406929238GWAS578214_Hcigarettes per day measurement QTL GWAS578214 (human)5e-16cigarettes per day measurement429172482917249Human
406934170GWAS583146_Hhousehold income QTL GWAS583146 (human)9e-10household income428562782856279Human
407113818GWAS762794_Hself reported educational attainment QTL GWAS762794 (human)3e-17self reported educational attainment428814452881446Human
406955743GWAS604719_Hsmoking initiation QTL GWAS604719 (human)3e-17smoking initiation428894682889469Human
407339224GWAS988200_Htriglyceride measurement QTL GWAS988200 (human)2e-14triglyceride measurementblood triglyceride level (CMO:0000118)428868952886896Human
407202789GWAS851765_Haging QTL GWAS851765 (human)4e-10aging429268502926851Human
406922848GWAS571824_Hsmoking behaviour measurement QTL GWAS571824 (human)7e-10smoking behaviour measurement428795292879530Human
406906478GWAS555454_Hmigraine disorder, type 2 diabetes mellitus QTL GWAS555454 (human)3e-08migraine disorder, type 2 diabetes mellitus428604632860464Human
406896562GWAS545538_Hsmoking initiation QTL GWAS545538 (human)3e-16smoking initiation428894682889469Human
406903282GWAS552258_Hdiastolic blood pressure, systolic blood pressure QTL GWAS552258 (human)2e-08diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)428977112897712Human
406928506GWAS577482_Hage at initiation of smoking QTL GWAS577482 (human)5e-13age at initiation of smoking428674002867401Human
407105400GWAS754376_Hself reported educational attainment QTL GWAS754376 (human)9e-17self reported educational attainment428814452881446Human
407134776GWAS783752_HHuntington disease, disease progression measurement QTL GWAS783752 (human)0.000003Huntington disease, disease progression measurementdisease progression measurement (CMO:0001110)428682022868203Human
407318331GWAS967307_Hnon-high density lipoprotein cholesterol measurement QTL GWAS967307 (human)3e-08total cholesterol measurementblood total cholesterol level (CMO:0000051)428868952886896Human
407319739GWAS968715_Hnon-high density lipoprotein cholesterol measurement QTL GWAS968715 (human)6e-09non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)428868952886896Human

Markers in Region
SHGC-50709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,881,185 - 2,881,278UniSTSGRCh37
Build 3642,850,983 - 2,851,076RGDNCBI36
Celera42,792,386 - 2,792,479RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,819,682 - 2,819,775UniSTS
TNG Radiation Hybrid Map41552.0UniSTS
IB433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,931,545 - 2,931,638UniSTSGRCh37
Build 3642,901,343 - 2,901,436RGDNCBI36
Celera42,842,736 - 2,842,829RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,869,948 - 2,870,041UniSTS
TNG Radiation Hybrid Map41593.0UniSTS
Stanford-G3 RH Map4207.0UniSTS
NCBI RH Map455.4UniSTS
GeneMap99-G3 RH Map4191.0UniSTS
SHGC-59534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,886,896 - 2,887,295UniSTSGRCh37
Build 3642,856,694 - 2,857,093RGDNCBI36
Celera42,798,098 - 2,798,497RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,825,393 - 2,825,792UniSTS
GeneMap99-GB4 RH Map428.11UniSTS
NCBI RH Map465.7UniSTS
G21856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,888,640 - 2,888,789UniSTSGRCh37
Build 3642,858,438 - 2,858,587RGDNCBI36
Celera42,799,842 - 2,799,991RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,827,137 - 2,827,286UniSTS
D4S2503E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,930,577 - 2,930,674UniSTSGRCh37
Build 3642,900,375 - 2,900,472RGDNCBI36
Celera42,841,768 - 2,841,865RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,868,980 - 2,869,077UniSTS
GDB:197234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,930,722 - 2,930,956UniSTSGRCh37
Build 3642,900,520 - 2,900,754RGDNCBI36
Celera42,841,913 - 2,842,147RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,869,125 - 2,869,359UniSTS
SHGC-67376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,928,111 - 2,928,258UniSTSGRCh37
Build 3642,897,909 - 2,898,056RGDNCBI36
Celera42,839,302 - 2,839,449RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,866,514 - 2,866,661UniSTS
GeneMap99-GB4 RH Map428.11UniSTS
NCBI RH Map465.7UniSTS
SHGC-59535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,929,098 - 2,929,229UniSTSGRCh37
Build 3642,898,896 - 2,899,027RGDNCBI36
Celera42,840,289 - 2,840,420RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,867,501 - 2,867,632UniSTS
GeneMap99-GB4 RH Map428.11UniSTS
SHGC-67653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,911,065 - 2,911,238UniSTSGRCh37
Build 3642,880,863 - 2,881,036RGDNCBI36
Celera42,822,266 - 2,822,439RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,849,476 - 2,849,649UniSTS
GeneMap99-GB4 RH Map428.11UniSTS
NCBI RH Map465.7UniSTS
SHGC-31191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,908,016 - 2,908,165UniSTSGRCh37
Build 3642,877,814 - 2,877,963RGDNCBI36
Celera42,819,217 - 2,819,366RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,846,427 - 2,846,576UniSTS
TNG Radiation Hybrid Map41578.0UniSTS
GeneMap99-GB4 RH Map428.11UniSTS
Whitehead-RH Map420.0UniSTS
G16715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,881,138 - 2,881,257UniSTSGRCh37
Build 3642,850,936 - 2,851,055RGDNCBI36
Celera42,792,339 - 2,792,458RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,819,635 - 2,819,754UniSTS
SHGC-59864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,929,895 - 2,930,036UniSTSGRCh37
Build 3642,899,693 - 2,899,834RGDNCBI36
Celera42,841,086 - 2,841,227RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,868,298 - 2,868,439UniSTS
GeneMap99-GB4 RH Map425.78UniSTS
NCBI RH Map465.7UniSTS
SGC38240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,910,855 - 2,911,114UniSTSGRCh37
Build 3642,880,653 - 2,880,912RGDNCBI36
Celera42,822,056 - 2,822,315RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,849,266 - 2,849,525UniSTS
GeneMap99-GB4 RH Map424.06UniSTS
Whitehead-RH Map417.6UniSTS
NCBI RH Map468.1UniSTS
L17688  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q32UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
RH80030  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map12q15-q21UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2p22.2UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map11q22.2-q22.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map2q32.2UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_176801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH003627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI460192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU729599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX465861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA391117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR995783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX783962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D44632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z68280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z74617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264758   ⟹   ENSP00000264758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,843,857 - 2,930,073 (+)Ensembl
Ensembl Acc Id: ENST00000355842   ⟹   ENSP00000348100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,844,150 - 2,930,062 (+)Ensembl
Ensembl Acc Id: ENST00000374281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,853,134 - 2,868,095 (+)Ensembl
Ensembl Acc Id: ENST00000398123   ⟹   ENSP00000381191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,875,896 - 2,928,523 (+)Ensembl
Ensembl Acc Id: ENST00000398125   ⟹   ENSP00000381193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,843,857 - 2,930,073 (+)Ensembl
Ensembl Acc Id: ENST00000398129   ⟹   ENSP00000381197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,875,896 - 2,930,076 (+)Ensembl
Ensembl Acc Id: ENST00000446856   ⟹   ENSP00000399828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,843,922 - 2,930,073 (+)Ensembl
Ensembl Acc Id: ENST00000503062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,926,309 - 2,928,291 (+)Ensembl
Ensembl Acc Id: ENST00000503169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,867,875 - 2,905,721 (+)Ensembl
Ensembl Acc Id: ENST00000503455   ⟹   ENSP00000423024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,843,987 - 2,929,327 (+)Ensembl
Ensembl Acc Id: ENST00000506157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,887,504 - 2,902,914 (+)Ensembl
Ensembl Acc Id: ENST00000508277   ⟹   ENSP00000426700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,843,982 - 2,894,733 (+)Ensembl
Ensembl Acc Id: ENST00000508684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,843,857 - 2,900,313 (+)Ensembl
Ensembl Acc Id: ENST00000509039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,843,979 - 2,899,777 (+)Ensembl
Ensembl Acc Id: ENST00000510101   ⟹   ENSP00000425703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,843,872 - 2,894,684 (+)Ensembl
Ensembl Acc Id: ENST00000511797   ⟹   ENSP00000421918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,843,945 - 2,884,569 (+)Ensembl
Ensembl Acc Id: ENST00000513328   ⟹   ENSP00000421907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,843,973 - 2,929,307 (+)Ensembl
Ensembl Acc Id: ENST00000513762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,907,377 - 2,930,076 (+)Ensembl
Ensembl Acc Id: ENST00000514940   ⟹   ENSP00000424143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,898,431 - 2,928,431 (+)Ensembl
Ensembl Acc Id: ENST00000534870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,881,600 - 2,894,682 (+)Ensembl
Ensembl Acc Id: ENST00000536078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,904,664 - 2,907,813 (+)Ensembl
Ensembl Acc Id: ENST00000536424   ⟹   ENSP00000438069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,907,830 - 2,928,560 (+)Ensembl
Ensembl Acc Id: ENST00000538860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,928,603 - 2,930,062 (+)Ensembl
Ensembl Acc Id: ENST00000539108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,843,953 - 2,854,950 (+)Ensembl
Ensembl Acc Id: ENST00000539149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,914,705 - 2,926,137 (+)Ensembl
Ensembl Acc Id: ENST00000540541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,843,989 - 2,876,405 (+)Ensembl
Ensembl Acc Id: ENST00000541051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,907,204 - 2,926,100 (+)Ensembl
Ensembl Acc Id: ENST00000541843   ⟹   ENSP00000441388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,914,942 - 2,928,346 (+)Ensembl
Ensembl Acc Id: ENST00000651918   ⟹   ENSP00000498269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,844,401 - 2,930,043 (+)Ensembl
Ensembl Acc Id: ENST00000683351   ⟹   ENSP00000508142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,843,844 - 2,930,062 (+)Ensembl
RefSeq Acc Id: NM_001119   ⟹   NP_001110
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,843,844 - 2,930,062 (+)NCBI
GRCh3742,845,454 - 2,931,803 (+)NCBI
Build 3642,815,382 - 2,901,587 (+)NCBI Archive
HuRef42,784,038 - 2,870,206 (+)NCBI
CHM1_142,843,557 - 2,929,744 (+)NCBI
T2T-CHM13v2.042,842,299 - 2,928,525 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286645   ⟹   NP_001273574
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,844,150 - 2,930,062 (+)NCBI
HuRef42,784,038 - 2,870,206 (+)NCBI
CHM1_142,843,850 - 2,929,744 (+)NCBI
T2T-CHM13v2.042,842,605 - 2,928,525 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354754   ⟹   NP_001341683
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,843,844 - 2,930,062 (+)NCBI
T2T-CHM13v2.042,842,299 - 2,928,525 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354755   ⟹   NP_001341684
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,844,150 - 2,930,062 (+)NCBI
T2T-CHM13v2.042,842,605 - 2,928,525 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354756   ⟹   NP_001341685
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,843,844 - 2,930,062 (+)NCBI
T2T-CHM13v2.042,842,299 - 2,928,525 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354757   ⟹   NP_001341686
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,843,844 - 2,930,062 (+)NCBI
T2T-CHM13v2.042,842,299 - 2,928,525 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354758   ⟹   NP_001341687
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,844,150 - 2,930,062 (+)NCBI
T2T-CHM13v2.042,842,605 - 2,928,525 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354759   ⟹   NP_001341688
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,843,844 - 2,930,062 (+)NCBI
T2T-CHM13v2.042,842,299 - 2,928,525 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354761   ⟹   NP_001341690
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,843,844 - 2,930,062 (+)NCBI
T2T-CHM13v2.042,842,299 - 2,928,525 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354762   ⟹   NP_001341691
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,843,844 - 2,930,062 (+)NCBI
T2T-CHM13v2.042,842,299 - 2,928,525 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014189   ⟹   NP_054908
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,843,844 - 2,930,062 (+)NCBI
GRCh3742,845,454 - 2,931,803 (+)NCBI
Build 3642,815,382 - 2,901,587 (+)NCBI Archive
HuRef42,784,038 - 2,870,206 (+)NCBI
CHM1_142,843,557 - 2,929,744 (+)NCBI
T2T-CHM13v2.042,842,299 - 2,928,525 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014190   ⟹   NP_054909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,843,844 - 2,930,062 (+)NCBI
GRCh3742,845,454 - 2,931,803 (+)NCBI
Build 3642,815,382 - 2,901,587 (+)NCBI Archive
HuRef42,784,038 - 2,870,206 (+)NCBI
CHM1_142,843,557 - 2,929,744 (+)NCBI
T2T-CHM13v2.042,842,299 - 2,928,525 (+)NCBI
Sequence:
RefSeq Acc Id: NM_176801   ⟹   NP_789771
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,843,844 - 2,930,062 (+)NCBI
GRCh3742,845,454 - 2,931,803 (+)NCBI
Build 3642,815,382 - 2,901,587 (+)NCBI Archive
HuRef42,784,038 - 2,870,206 (+)NCBI
CHM1_142,843,557 - 2,929,744 (+)NCBI
T2T-CHM13v2.042,842,299 - 2,928,525 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005247934   ⟹   XP_005247991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,867,851 - 2,930,062 (+)NCBI
GRCh3742,845,454 - 2,931,803 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007703   ⟹   XP_016863192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,859,941 - 2,930,062 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007704   ⟹   XP_016863193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,867,851 - 2,930,062 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007705   ⟹   XP_016863194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,867,851 - 2,930,062 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007706   ⟹   XP_016863195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,867,851 - 2,930,062 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007709   ⟹   XP_016863198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,867,851 - 2,930,062 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453887   ⟹   XP_024309655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,867,851 - 2,930,062 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047449579   ⟹   XP_047305535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,844,150 - 2,930,062 (+)NCBI
RefSeq Acc Id: XM_047449580   ⟹   XP_047305536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,844,150 - 2,930,062 (+)NCBI
RefSeq Acc Id: XM_047449581   ⟹   XP_047305537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,844,150 - 2,930,062 (+)NCBI
RefSeq Acc Id: XM_047449582   ⟹   XP_047305538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,844,150 - 2,930,062 (+)NCBI
RefSeq Acc Id: XM_054348864   ⟹   XP_054204839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.042,865,638 - 2,928,525 (+)NCBI
RefSeq Acc Id: XM_054348865   ⟹   XP_054204840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.042,842,605 - 2,928,525 (+)NCBI
RefSeq Acc Id: XM_054348866   ⟹   XP_054204841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.042,858,408 - 2,928,525 (+)NCBI
RefSeq Acc Id: XM_054348867   ⟹   XP_054204842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.042,842,605 - 2,928,525 (+)NCBI
RefSeq Acc Id: XM_054348868   ⟹   XP_054204843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.042,842,605 - 2,928,525 (+)NCBI
RefSeq Acc Id: XM_054348869   ⟹   XP_054204844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.042,865,638 - 2,928,525 (+)NCBI
RefSeq Acc Id: XM_054348870   ⟹   XP_054204845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.042,865,638 - 2,928,525 (+)NCBI
RefSeq Acc Id: XM_054348871   ⟹   XP_054204846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.042,842,605 - 2,928,525 (+)NCBI
RefSeq Acc Id: XM_054348872   ⟹   XP_054204847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.042,865,638 - 2,928,525 (+)NCBI
RefSeq Acc Id: XM_054348873   ⟹   XP_054204848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.042,865,638 - 2,928,525 (+)NCBI
RefSeq Acc Id: XM_054348874   ⟹   XP_054204849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.042,865,638 - 2,928,525 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001110 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273574 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341683 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341684 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341685 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341686 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341687 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341688 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341690 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341691 (Get FASTA)   NCBI Sequence Viewer  
  NP_054908 (Get FASTA)   NCBI Sequence Viewer  
  NP_054909 (Get FASTA)   NCBI Sequence Viewer  
  NP_789771 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247991 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863192 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863193 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863194 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863195 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863198 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309655 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305535 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305536 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305537 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305538 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204839 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204840 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204841 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204842 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204843 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204844 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204845 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204846 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204847 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204848 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204849 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB05645 (Get FASTA)   NCBI Sequence Viewer  
  AAB30913 (Get FASTA)   NCBI Sequence Viewer  
  AAB30914 (Get FASTA)   NCBI Sequence Viewer  
  AAH13393 (Get FASTA)   NCBI Sequence Viewer  
  AAH42998 (Get FASTA)   NCBI Sequence Viewer  
  BAG58391 (Get FASTA)   NCBI Sequence Viewer  
  BAG60726 (Get FASTA)   NCBI Sequence Viewer  
  CAA98970 (Get FASTA)   NCBI Sequence Viewer  
  CAI95603 (Get FASTA)   NCBI Sequence Viewer  
  CAM28230 (Get FASTA)   NCBI Sequence Viewer  
  CAM28231 (Get FASTA)   NCBI Sequence Viewer  
  CAM28232 (Get FASTA)   NCBI Sequence Viewer  
  EAW82498 (Get FASTA)   NCBI Sequence Viewer  
  EAW82499 (Get FASTA)   NCBI Sequence Viewer  
  EAW82500 (Get FASTA)   NCBI Sequence Viewer  
  EAW82501 (Get FASTA)   NCBI Sequence Viewer  
  EAW82502 (Get FASTA)   NCBI Sequence Viewer  
  EAW82503 (Get FASTA)   NCBI Sequence Viewer  
  EAW82504 (Get FASTA)   NCBI Sequence Viewer  
  EAW82505 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264758
  ENSP00000264758.6
  ENSP00000348100
  ENSP00000348100.3
  ENSP00000381191.2
  ENSP00000381193
  ENSP00000381193.1
  ENSP00000381197
  ENSP00000381197.1
  ENSP00000421907
  ENSP00000421907.2
  ENSP00000421918.1
  ENSP00000423024.2
  ENSP00000424143.1
  ENSP00000425703.1
  ENSP00000426700.1
  ENSP00000438069.1
  ENSP00000441388.1
  ENSP00000498269
  ENSP00000498269.1
  ENSP00000508142
  ENSP00000508142.1
GenBank Protein P35611 (Get FASTA)   NCBI Sequence Viewer  
  UDL17968 (Get FASTA)   NCBI Sequence Viewer  
  UDL17969 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_789771   ⟸   NM_176801
- Peptide Label: isoform d
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_054908   ⟸   NM_014189
- Peptide Label: isoform b
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_054909   ⟸   NM_014190
- Peptide Label: isoform c
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001110   ⟸   NM_001119
- Peptide Label: isoform a
- UniProtKB: Q86XM2 (UniProtKB/Swiss-Prot),   Q16156 (UniProtKB/Swiss-Prot),   Q14729 (UniProtKB/Swiss-Prot),   Q13734 (UniProtKB/Swiss-Prot),   D3DVR5 (UniProtKB/Swiss-Prot),   D3DVR4 (UniProtKB/Swiss-Prot),   D3DVR3 (UniProtKB/Swiss-Prot),   B4DI79 (UniProtKB/Swiss-Prot),   A2A3P0 (UniProtKB/Swiss-Prot),   A2A3N8 (UniProtKB/Swiss-Prot),   Q9UJB6 (UniProtKB/Swiss-Prot),   P35611 (UniProtKB/Swiss-Prot),   E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005247991   ⟸   XM_005247934
- Peptide Label: isoform X1
- UniProtKB: A0A804HL01 (UniProtKB/TrEMBL),   E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273574   ⟸   NM_001286645
- Peptide Label: isoform e
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016863192   ⟸   XM_017007703
- Peptide Label: isoform X1
- UniProtKB: A0A804HL01 (UniProtKB/TrEMBL),   E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016863193   ⟸   XM_017007704
- Peptide Label: isoform X2
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016863198   ⟸   XM_017007709
- Peptide Label: isoform X6
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016863194   ⟸   XM_017007705
- Peptide Label: isoform X3
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016863195   ⟸   XM_017007706
- Peptide Label: isoform X4
- UniProtKB: Q86XM2 (UniProtKB/Swiss-Prot),   Q16156 (UniProtKB/Swiss-Prot),   Q14729 (UniProtKB/Swiss-Prot),   Q13734 (UniProtKB/Swiss-Prot),   D3DVR5 (UniProtKB/Swiss-Prot),   D3DVR4 (UniProtKB/Swiss-Prot),   D3DVR3 (UniProtKB/Swiss-Prot),   B4DI79 (UniProtKB/Swiss-Prot),   A2A3P0 (UniProtKB/Swiss-Prot),   A2A3N8 (UniProtKB/Swiss-Prot),   Q9UJB6 (UniProtKB/Swiss-Prot),   P35611 (UniProtKB/Swiss-Prot),   E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341686   ⟸   NM_001354757
- Peptide Label: isoform c
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341683   ⟸   NM_001354754
- Peptide Label: isoform a
- UniProtKB: Q86XM2 (UniProtKB/Swiss-Prot),   Q16156 (UniProtKB/Swiss-Prot),   Q14729 (UniProtKB/Swiss-Prot),   Q13734 (UniProtKB/Swiss-Prot),   P35611 (UniProtKB/Swiss-Prot),   D3DVR5 (UniProtKB/Swiss-Prot),   D3DVR4 (UniProtKB/Swiss-Prot),   D3DVR3 (UniProtKB/Swiss-Prot),   B4DI79 (UniProtKB/Swiss-Prot),   A2A3P0 (UniProtKB/Swiss-Prot),   A2A3N8 (UniProtKB/Swiss-Prot),   Q9UJB6 (UniProtKB/Swiss-Prot),   E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341691   ⟸   NM_001354762
- Peptide Label: isoform h
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341690   ⟸   NM_001354761
- Peptide Label: isoform g
- UniProtKB: A0A804HL01 (UniProtKB/TrEMBL),   E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341688   ⟸   NM_001354759
- Peptide Label: isoform e
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341685   ⟸   NM_001354756
- Peptide Label: isoform f
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341687   ⟸   NM_001354758
- Peptide Label: isoform c
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341684   ⟸   NM_001354755
- Peptide Label: isoform a
- UniProtKB: Q86XM2 (UniProtKB/Swiss-Prot),   Q16156 (UniProtKB/Swiss-Prot),   Q14729 (UniProtKB/Swiss-Prot),   Q13734 (UniProtKB/Swiss-Prot),   P35611 (UniProtKB/Swiss-Prot),   D3DVR5 (UniProtKB/Swiss-Prot),   D3DVR4 (UniProtKB/Swiss-Prot),   D3DVR3 (UniProtKB/Swiss-Prot),   B4DI79 (UniProtKB/Swiss-Prot),   A2A3P0 (UniProtKB/Swiss-Prot),   A2A3N8 (UniProtKB/Swiss-Prot),   Q9UJB6 (UniProtKB/Swiss-Prot),   E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309655   ⟸   XM_024453887
- Peptide Label: isoform X5
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000441388   ⟸   ENST00000541843
Ensembl Acc Id: ENSP00000381191   ⟸   ENST00000398123
Ensembl Acc Id: ENSP00000381193   ⟸   ENST00000398125
Ensembl Acc Id: ENSP00000381197   ⟸   ENST00000398129
Ensembl Acc Id: ENSP00000423024   ⟸   ENST00000503455
Ensembl Acc Id: ENSP00000426700   ⟸   ENST00000508277
Ensembl Acc Id: ENSP00000498269   ⟸   ENST00000651918
Ensembl Acc Id: ENSP00000438069   ⟸   ENST00000536424
Ensembl Acc Id: ENSP00000425703   ⟸   ENST00000510101
Ensembl Acc Id: ENSP00000399828   ⟸   ENST00000446856
Ensembl Acc Id: ENSP00000421918   ⟸   ENST00000511797
Ensembl Acc Id: ENSP00000348100   ⟸   ENST00000355842
Ensembl Acc Id: ENSP00000421907   ⟸   ENST00000513328
Ensembl Acc Id: ENSP00000264758   ⟸   ENST00000264758
Ensembl Acc Id: ENSP00000424143   ⟸   ENST00000514940
Ensembl Acc Id: ENSP00000508142   ⟸   ENST00000683351
RefSeq Acc Id: XP_047305536   ⟸   XM_047449580
- Peptide Label: isoform X1
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL),   A0A804HL01 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305537   ⟸   XM_047449581
- Peptide Label: isoform X1
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL),   A0A804HL01 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305535   ⟸   XM_047449579
- Peptide Label: isoform X1
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL),   A0A804HL01 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305538   ⟸   XM_047449582
- Peptide Label: isoform X3
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204842   ⟸   XM_054348867
- Peptide Label: isoform X1
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL),   A0A804HL01 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204843   ⟸   XM_054348868
- Peptide Label: isoform X1
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL),   A0A804HL01 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204840   ⟸   XM_054348865
- Peptide Label: isoform X1
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL),   A0A804HL01 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204846   ⟸   XM_054348871
- Peptide Label: isoform X3
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204841   ⟸   XM_054348866
- Peptide Label: isoform X1
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL),   A0A804HL01 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204839   ⟸   XM_054348864
- Peptide Label: isoform X1
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL),   A0A804HL01 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204848   ⟸   XM_054348873
- Peptide Label: isoform X5
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204844   ⟸   XM_054348869
- Peptide Label: isoform X2
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204845   ⟸   XM_054348870
- Peptide Label: isoform X3
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204849   ⟸   XM_054348874
- Peptide Label: isoform X6
- UniProtKB: E7ENY0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204847   ⟸   XM_054348872
- Peptide Label: isoform X4
- UniProtKB: Q86XM2 (UniProtKB/Swiss-Prot),   Q16156 (UniProtKB/Swiss-Prot),   Q14729 (UniProtKB/Swiss-Prot),   Q13734 (UniProtKB/Swiss-Prot),   P35611 (UniProtKB/Swiss-Prot),   D3DVR5 (UniProtKB/Swiss-Prot),   D3DVR4 (UniProtKB/Swiss-Prot),   D3DVR3 (UniProtKB/Swiss-Prot),   B4DI79 (UniProtKB/Swiss-Prot),   A2A3P0 (UniProtKB/Swiss-Prot),   A2A3N8 (UniProtKB/Swiss-Prot),   Q9UJB6 (UniProtKB/Swiss-Prot),   E7ENY0 (UniProtKB/TrEMBL)
Protein Domains
Class II aldolase/adducin N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P35611-F1-model_v2 AlphaFold P35611 1-737 view protein structure

Promoters
RGD ID:6802153
Promoter ID:HG_KWN:47719
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000355842,   ENST00000398124,   NM_001119,   NM_014189,   NM_014190,   NM_176801,   UC003GFN.1,   UC010ICO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3642,814,626 - 2,816,157 (+)MPROMDB
RGD ID:6812571
Promoter ID:HG_ACW:57953
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ADD1.UAPR07,   NEYSWERBU.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 3642,823,926 - 2,824,426 (+)MPROMDB
RGD ID:6866900
Promoter ID:EPDNEW_H6615
Type:initiation region
Name:ADD1_3
Description:adducin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6612  EPDNEW_H6616  EPDNEW_H6617  EPDNEW_H6618  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,838,262 - 2,838,322EPDNEW
RGD ID:6866902
Promoter ID:EPDNEW_H6616
Type:initiation region
Name:ADD1_2
Description:adducin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6612  EPDNEW_H6615  EPDNEW_H6617  EPDNEW_H6618  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,844,206 - 2,844,266EPDNEW
RGD ID:6866904
Promoter ID:EPDNEW_H6617
Type:initiation region
Name:ADD1_4
Description:adducin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6612  EPDNEW_H6615  EPDNEW_H6616  EPDNEW_H6618  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,867,876 - 2,867,936EPDNEW
RGD ID:6866906
Promoter ID:EPDNEW_H6618
Type:initiation region
Name:ADD1_1
Description:adducin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6612  EPDNEW_H6615  EPDNEW_H6616  EPDNEW_H6617  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,875,943 - 2,876,003EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:243 AgrOrtholog
COSMIC ADD1 COSMIC
Ensembl Genes ENSG00000087274 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264758 ENTREZGENE
  ENST00000264758.11 UniProtKB/Swiss-Prot
  ENST00000355842 ENTREZGENE
  ENST00000355842.7 UniProtKB/Swiss-Prot
  ENST00000398123.6 UniProtKB/Swiss-Prot
  ENST00000398125 ENTREZGENE
  ENST00000398125.5 UniProtKB/Swiss-Prot
  ENST00000398129 ENTREZGENE
  ENST00000398129.5 UniProtKB/Swiss-Prot
  ENST00000503455.6 UniProtKB/TrEMBL
  ENST00000508277.5 UniProtKB/TrEMBL
  ENST00000510101.5 UniProtKB/TrEMBL
  ENST00000511797.5 UniProtKB/TrEMBL
  ENST00000513328 ENTREZGENE
  ENST00000513328.6 UniProtKB/TrEMBL
  ENST00000514940.5 UniProtKB/TrEMBL
  ENST00000536424.2 UniProtKB/TrEMBL
  ENST00000541843.2 UniProtKB/TrEMBL
  ENST00000651918 ENTREZGENE
  ENST00000651918.1 UniProtKB/Swiss-Prot
  ENST00000683351 ENTREZGENE
  ENST00000683351.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.225.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000087274 GTEx
HGNC ID HGNC:243 ENTREZGENE
Human Proteome Map ADD1 Human Proteome Map
InterPro Aldolase-II_Adducin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldolase_II/adducin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldolase_II/adducin_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:118 UniProtKB/Swiss-Prot
NCBI Gene 118 ENTREZGENE
OMIM 102680 OMIM
PANTHER ADDUCIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10672:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aldolase_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ADD1 RGD, PharmGKB
SMART Aldolase_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53639 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A804HL01 ENTREZGENE, UniProtKB/TrEMBL
  A2A3N8 ENTREZGENE
  A2A3P0 ENTREZGENE
  ADDA_HUMAN UniProtKB/Swiss-Prot
  B4DI79 ENTREZGENE
  D3DVR3 ENTREZGENE
  D3DVR4 ENTREZGENE
  D3DVR5 ENTREZGENE
  D6RAH3_HUMAN UniProtKB/TrEMBL
  D6RF25_HUMAN UniProtKB/TrEMBL
  D6RJE2_HUMAN UniProtKB/TrEMBL
  E7ENY0 ENTREZGENE, UniProtKB/TrEMBL
  E7EV99_HUMAN UniProtKB/TrEMBL
  H0Y9H2_HUMAN UniProtKB/TrEMBL
  H0YFD8_HUMAN UniProtKB/TrEMBL
  H0YG19_HUMAN UniProtKB/TrEMBL
  P35611 ENTREZGENE
  Q13734 ENTREZGENE
  Q14729 ENTREZGENE
  Q16156 ENTREZGENE
  Q86XM2 ENTREZGENE
  Q96D30_HUMAN UniProtKB/TrEMBL
  Q9UJB6 ENTREZGENE
UniProt Secondary A2A3N8 UniProtKB/Swiss-Prot
  A2A3P0 UniProtKB/Swiss-Prot
  B4DI79 UniProtKB/Swiss-Prot
  D3DVR3 UniProtKB/Swiss-Prot
  D3DVR4 UniProtKB/Swiss-Prot
  D3DVR5 UniProtKB/Swiss-Prot
  Q13734 UniProtKB/Swiss-Prot
  Q14729 UniProtKB/Swiss-Prot
  Q16156 UniProtKB/Swiss-Prot
  Q86XM2 UniProtKB/Swiss-Prot
  Q9UJB6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 ADD1  adducin 1  ADD1  adducin 1 (alpha)  Symbol and/or name change 5135510 APPROVED