ACO1 (aconitase 1) - Rat Genome Database

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Gene: ACO1 (aconitase 1) Homo sapiens
Analyze
Symbol: ACO1
Name: aconitase 1
RGD ID: 10067
HGNC Page HGNC:117
Description: Enables several functions, including aconitate hydratase activity; iron-responsive element binding activity; and iron-sulfur cluster binding activity. Involved in citrate metabolic process and response to iron(II) ion. Located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: aconitase 1, soluble; aconitate hydratase; aconitate hydratase, cytoplasmic; ACONS; citrate hydro-lyase; cytoplasmic aconitase; cytoplasmic aconitate hydratase; cytosplasmic aconitase; epididymis luminal protein 60; ferritin repressor protein; HEL60; IRE-BP 1; IREB1; IREBP; IREBP1; iron regulatory protein 1; iron-responsive element binding protein 1; iron-responsive element-binding protein; iron-responsive element-binding protein 1; IRP1; soluble aconitase
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
GRCh38932,384,643 - 32,454,769 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl932,384,603 - 32,454,769 (+)EnsemblGRCh38hg38GRCh38
GRCh37932,384,641 - 32,454,767 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36932,374,650 - 32,440,830 (+)NCBINCBI36Build 36hg18NCBI36
Build 34932,374,649 - 32,440,830NCBI
Celera932,314,541 - 32,380,796 (+)NCBICelera
Cytogenetic Map9p21.1ENTREZGENE
HuRef932,340,337 - 32,406,624 (+)NCBIHuRef
CHM1_1932,384,455 - 32,450,692 (+)NCBICHM1_1
T2T-CHM13v2.0932,400,543 - 32,470,694 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
2-nitrofluorene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
aluminium atom  (ISO)
aluminium(0)  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
aspartame  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
butylated hydroxyanisole  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt atom  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (ISO)
coumarin  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
D-glucose  (EXP,ISO)
decabromodiphenyl ether  (EXP)
desferrioxamine B  (EXP,ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
etoposide  (ISO)
fenofibrate  (ISO)
ferric ammonium citrate  (ISO)
Fluorocitric acid  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gallium nitrate  (EXP)
glucose  (EXP,ISO)
gold atom  (EXP)
gold(0)  (EXP)
hemin  (ISO)
hydrogen peroxide  (EXP,ISO)
indometacin  (ISO)
iron atom  (EXP,ISO)
iron(0)  (EXP,ISO)
iron(2+) sulfate (anhydrous)  (EXP)
iron(3+) sulfate  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
KN-93  (ISO)
L-ethionine  (ISO)
lead nitrate  (EXP)
leflunomide  (ISO)
linalool  (EXP)
lipopolysaccharide  (ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (ISO)
menadione  (ISO)
Mesaconitine  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP,ISO)
methimazole  (ISO)
miconazole  (ISO)
mitomycin C  (EXP)
monosodium L-glutamate  (ISO)
Muraglitazar  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
nimesulide  (ISO)
nitric oxide  (ISO)
Nutlin-3  (EXP)
okadaic acid  (ISO)
omeprazole  (ISO)
oxidopamine  (ISO)
ozone  (EXP,ISO)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP)
phlorizin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
prochloraz  (ISO)
propiconazole  (ISO)
protein kinase inhibitor  (ISO)
quercetin  (ISO)
rotenone  (EXP)
sodium arsenite  (ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
superoxide  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trabectedin  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vinclozolin  (ISO)
zearalenone  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA,IMP,NAS)
cytosol  (IBA,IDA,IEA,TAS)
endoplasmic reticulum  (IDA)
extracellular exosome  (HDA)
Golgi apparatus  (IDA)
mitochondrion  (IBA,IDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. [Distribution of Listeria L forms in the body of infected lambs]. Bakulov IA and Zelentsova TIa, Veterinariia. 1978 Dec;(12):65-7.
2. [Effect of truncal vagotomy on the exocrine function of the pancreas in the dog] Dabrowski Z, etal., Pol Tyg Lek 1978 Jul 10;33(28):1093-5.
3. The role of iron in anthracycline cardiotoxicity. Gammella E, etal., Front Pharmacol. 2014 Feb 26;5:25. doi: 10.3389/fphar.2014.00025. eCollection 2014.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Role of iron in the pathogenesis of cysteamine-induced duodenal ulceration in rats. Khomenko T, etal., Am J Physiol Gastrointest Liver Physiol. 2009 Jun;296(6):G1277-86. doi: 10.1152/ajpgi.90257.2008. Epub 2009 Apr 2.
6. Cellular iron uptake, trafficking and metabolism: Key molecules and mechanisms and their roles in disease. Lane DJ, etal., Biochim Biophys Acta. 2015 May;1853(5):1130-44. doi: 10.1016/j.bbamcr.2015.01.021. Epub 2015 Feb 4.
7. Disrupted iron metabolism and ensuing oxidative stress may mediate cognitive dysfunction induced by chronic cerebral hypoperfusion. Li Y, etal., Biol Trace Elem Res. 2012 Dec;150(1-3):242-8. doi: 10.1007/s12011-012-9455-0. Epub 2012 May 26.
8. High Fat Diet Induces Liver Steatosis and Early Dysregulation of Iron Metabolism in Rats. Meli R, etal., PLoS One. 2013 Jun 21;8(6):e66570. doi: 10.1371/journal.pone.0066570. Print 2013.
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. IF/TA-related metabolic changes--proteome analysis of rat renal allografts. Reuter S, etal., Nephrol Dial Transplant. 2010 Aug;25(8):2492-501. doi: 10.1093/ndt/gfq043. Epub 2010 Feb 22.
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. Molecular pharmacology of the interaction of anthracyclines with iron. Xu X, etal., Mol Pharmacol. 2005 Aug;68(2):261-71. Epub 2005 May 9.
Additional References at PubMed
PMID:1281544   PMID:1738601   PMID:1903202   PMID:1946430   PMID:2172968   PMID:2771641   PMID:7983023   PMID:8041788   PMID:8262977   PMID:8764614   PMID:9020582   PMID:10419470  
PMID:10944468   PMID:11783942   PMID:11812787   PMID:12196178   PMID:12477932   PMID:12572667   PMID:12855587   PMID:12972614   PMID:14744259   PMID:15099026   PMID:15342556   PMID:15349772  
PMID:15489334   PMID:15543932   PMID:15938636   PMID:16144863   PMID:16344560   PMID:16407072   PMID:16424901   PMID:16503547   PMID:16527810   PMID:17127713   PMID:17200797   PMID:17244191  
PMID:17521334   PMID:17604281   PMID:17613866   PMID:17877204   PMID:18029348   PMID:18262302   PMID:19056867   PMID:19688112   PMID:19762596   PMID:19762597   PMID:20354189   PMID:20558735  
PMID:20569198   PMID:20574843   PMID:20877624   PMID:21360641   PMID:21832049   PMID:21873635   PMID:22020773   PMID:22331484   PMID:22502979   PMID:22544036   PMID:22561531   PMID:22658674  
PMID:22863883   PMID:22939629   PMID:23376485   PMID:23382691   PMID:23414517   PMID:23533145   PMID:23615448   PMID:23817740   PMID:23891004   PMID:23935819   PMID:24778179   PMID:24811271  
PMID:24909164   PMID:25012650   PMID:25106854   PMID:25144566   PMID:25550467   PMID:25727755   PMID:25921289   PMID:26296460   PMID:26344197   PMID:26755275   PMID:26778000   PMID:27591049  
PMID:28502703   PMID:28615439   PMID:28762519   PMID:28768766   PMID:29330752   PMID:30415773   PMID:30575818   PMID:31229404   PMID:31478661   PMID:32199885   PMID:32327693   PMID:32687490  
PMID:32707033   PMID:33462405   PMID:33845483   PMID:33961781   PMID:34572542   PMID:34591612   PMID:35121990   PMID:35509820   PMID:35831314   PMID:35914814   PMID:35944360   PMID:36142654  
PMID:36168627   PMID:36168628   PMID:36215168   PMID:37723588   PMID:39122013  


Genomics

Comparative Map Data
ACO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38932,384,643 - 32,454,769 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl932,384,603 - 32,454,769 (+)EnsemblGRCh38hg38GRCh38
GRCh37932,384,641 - 32,454,767 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36932,374,650 - 32,440,830 (+)NCBINCBI36Build 36hg18NCBI36
Build 34932,374,649 - 32,440,830NCBI
Celera932,314,541 - 32,380,796 (+)NCBICelera
Cytogenetic Map9p21.1ENTREZGENE
HuRef932,340,337 - 32,406,624 (+)NCBIHuRef
CHM1_1932,384,455 - 32,450,692 (+)NCBICHM1_1
T2T-CHM13v2.0932,400,543 - 32,470,694 (+)NCBIT2T-CHM13v2.0
Aco1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39440,143,429 - 40,199,011 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl440,143,081 - 40,198,338 (+)EnsemblGRCm39 Ensembl
GRCm38440,143,265 - 40,199,009 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl440,143,081 - 40,198,338 (+)EnsemblGRCm38mm10GRCm38
MGSCv37440,090,298 - 40,146,042 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36440,328,401 - 40,386,991 (+)NCBIMGSCv36mm8
Celera439,806,276 - 39,861,986 (+)NCBICelera
Cytogenetic Map4A5NCBI
cM Map420.24NCBI
Aco1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8560,055,895 - 60,111,920 (+)NCBIGRCr8
mRatBN7.2555,259,841 - 55,315,872 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl555,259,827 - 55,316,391 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx557,225,306 - 57,281,119 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0559,044,439 - 59,100,254 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0559,015,833 - 59,071,688 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0556,425,076 - 56,481,218 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl556,425,024 - 56,481,218 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0560,972,013 - 61,027,705 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4557,536,675 - 57,591,765 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1557,536,853 - 57,591,944 (+)NCBI
Celera553,878,712 - 53,934,197 (+)NCBICelera
Cytogenetic Map5q22NCBI
Aco1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554723,141,257 - 3,170,959 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554723,141,473 - 3,170,959 (-)NCBIChiLan1.0ChiLan1.0
ACO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21192,164,213 - 92,231,743 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1992,170,253 - 92,237,579 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0932,157,763 - 32,225,116 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1932,967,993 - 33,035,177 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl932,967,993 - 33,035,177 (+)Ensemblpanpan1.1panPan2
ACO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11149,699,072 - 49,758,783 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1149,699,109 - 49,923,257 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1148,322,141 - 48,381,344 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01150,638,076 - 50,697,301 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1150,638,068 - 50,698,739 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11149,303,601 - 49,362,955 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01149,170,094 - 49,229,515 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01149,928,796 - 49,988,168 (+)NCBIUU_Cfam_GSD_1.0
Aco1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947164,534,060 - 164,592,528 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365241,081,696 - 1,134,971 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365241,081,672 - 1,134,971 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1033,937,833 - 34,001,900 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11033,937,833 - 34,001,895 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21038,194,977 - 38,259,631 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11247,771,140 - 47,874,478 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1247,806,436 - 47,874,227 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603844,664,516 - 44,768,114 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aco1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473637,063,246 - 37,126,702 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473637,063,540 - 37,127,772 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACO1
82 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3		 pathogenic
NM_002197.3(ACO1):c.1204T>C (p.Phe402Leu) single nucleotide variant not specified [RCV004304688] Chr9:32425853 [GRCh38]
Chr9:32425851 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2515A>G (p.Ile839Val) single nucleotide variant not specified [RCV004319526] Chr9:32449040 [GRCh38]
Chr9:32449038 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.98G>A (p.Gly33Glu) single nucleotide variant not specified [RCV004320858] Chr9:32407261 [GRCh38]
Chr9:32407259 [GRCh37]
Chr9:9p21.1		 uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
NM_002197.3(ACO1):c.2081G>A (p.Arg694His) single nucleotide variant not specified [RCV004314209] Chr9:32434683 [GRCh38]
Chr9:32434681 [GRCh37]
Chr9:9p21.1		 uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
NM_002197.3(ACO1):c.2382C>T (p.Ala794=) single nucleotide variant not provided [RCV000885669] Chr9:32448907 [GRCh38]
Chr9:32448905 [GRCh37]
Chr9:9p21.1		 benign
NM_002197.3(ACO1):c.756C>T (p.His252=) single nucleotide variant not provided [RCV000969041] Chr9:32419135 [GRCh38]
Chr9:32419133 [GRCh37]
Chr9:9p21.1		 benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_002197.3(ACO1):c.954G>A (p.Thr318=) single nucleotide variant not provided [RCV000917180] Chr9:32421011 [GRCh38]
Chr9:32421009 [GRCh37]
Chr9:9p21.1		 likely benign
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_002197.3(ACO1):c.1329G>A (p.Pro443=) single nucleotide variant not provided [RCV000907394] Chr9:32425978 [GRCh38]
Chr9:32425976 [GRCh37]
Chr9:9p21.1		 benign
NM_002197.3(ACO1):c.1707C>T (p.Asp569=) single nucleotide variant not provided [RCV000969042] Chr9:32430555 [GRCh38]
Chr9:32430553 [GRCh37]
Chr9:9p21.1		 benign
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
NC_000009.11:g.(?_32399559)_(33541225_?)dup duplication not provided [RCV001324921] Chr9:32399559..33541225 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_002197.3(ACO1):c.1189C>G (p.Gln397Glu) single nucleotide variant not specified [RCV004116859] Chr9:32425838 [GRCh38]
Chr9:32425836 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1055A>G (p.Asp352Gly) single nucleotide variant not specified [RCV004216661] Chr9:32423403 [GRCh38]
Chr9:32423401 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.224A>G (p.Glu75Gly) single nucleotide variant not specified [RCV004145355] Chr9:32407387 [GRCh38]
Chr9:32407385 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2354A>G (p.Lys785Arg) single nucleotide variant not specified [RCV004092567] Chr9:32440571 [GRCh38]
Chr9:32440569 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2111G>A (p.Arg704Gln) single nucleotide variant not specified [RCV004093080] Chr9:32436261 [GRCh38]
Chr9:32436259 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1226A>T (p.His409Leu) single nucleotide variant not specified [RCV004139003] Chr9:32425875 [GRCh38]
Chr9:32425873 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1226A>G (p.His409Arg) single nucleotide variant not specified [RCV004087004] Chr9:32425875 [GRCh38]
Chr9:32425873 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.600C>G (p.Ser200Arg) single nucleotide variant not specified [RCV004174504] Chr9:32418453 [GRCh38]
Chr9:32418451 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1994C>T (p.Ala665Val) single nucleotide variant not provided [RCV004695357]|not specified [RCV004080707] Chr9:32434596 [GRCh38]
Chr9:32434594 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2135G>A (p.Arg712His) single nucleotide variant not specified [RCV004130646] Chr9:32436285 [GRCh38]
Chr9:32436283 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.604G>A (p.Val202Met) single nucleotide variant not specified [RCV004242868] Chr9:32418457 [GRCh38]
Chr9:32418455 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.509T>C (p.Ile170Thr) single nucleotide variant not specified [RCV004196273] Chr9:32418362 [GRCh38]
Chr9:32418360 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.865T>C (p.Ser289Pro) single nucleotide variant not specified [RCV004161424] Chr9:32420922 [GRCh38]
Chr9:32420920 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2183G>A (p.Arg728His) single nucleotide variant not specified [RCV004107171] Chr9:32436333 [GRCh38]
Chr9:32436331 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.857C>T (p.Ala286Val) single nucleotide variant not specified [RCV004156513] Chr9:32420914 [GRCh38]
Chr9:32420912 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1492G>A (p.Val498Met) single nucleotide variant not specified [RCV004150941] Chr9:32429426 [GRCh38]
Chr9:32429424 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2650A>G (p.Ile884Val) single nucleotide variant not specified [RCV004069283] Chr9:32450091 [GRCh38]
Chr9:32450089 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.988T>A (p.Leu330Ile) single nucleotide variant not specified [RCV004192643] Chr9:32423336 [GRCh38]
Chr9:32423334 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1261G>A (p.Glu421Lys) single nucleotide variant not specified [RCV004122603] Chr9:32425910 [GRCh38]
Chr9:32425908 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2654G>C (p.Arg885Pro) single nucleotide variant not specified [RCV004116236] Chr9:32450095 [GRCh38]
Chr9:32450093 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1250A>T (p.Tyr417Phe) single nucleotide variant not specified [RCV004177769] Chr9:32425899 [GRCh38]
Chr9:32425897 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2648T>G (p.Met883Arg) single nucleotide variant not specified [RCV004284923] Chr9:32450089 [GRCh38]
Chr9:32450087 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1378G>A (p.Gly460Ser) single nucleotide variant not specified [RCV004272435] Chr9:32427330 [GRCh38]
Chr9:32427328 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2654G>A (p.Arg885His) single nucleotide variant not specified [RCV004251865] Chr9:32450095 [GRCh38]
Chr9:32450093 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.764T>G (p.Val255Gly) single nucleotide variant not specified [RCV004281293] Chr9:32419143 [GRCh38]
Chr9:32419141 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.593C>T (p.Pro198Leu) single nucleotide variant not specified [RCV004253293] Chr9:32418446 [GRCh38]
Chr9:32418444 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.806G>T (p.Arg269Leu) single nucleotide variant not specified [RCV004284975] Chr9:32420863 [GRCh38]
Chr9:32420861 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2149G>A (p.Ala717Thr) single nucleotide variant not specified [RCV004249158] Chr9:32436299 [GRCh38]
Chr9:32436297 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.838T>C (p.Phe280Leu) single nucleotide variant not specified [RCV004365100] Chr9:32420895 [GRCh38]
Chr9:32420893 [GRCh37]
Chr9:9p21.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_002197.3(ACO1):c.2068A>G (p.Ser690Gly) single nucleotide variant not specified [RCV004426925] Chr9:32434670 [GRCh38]
Chr9:32434668 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1520T>C (p.Ile507Thr) single nucleotide variant not specified [RCV004426905] Chr9:32429454 [GRCh38]
Chr9:32429452 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2491G>C (p.Gly831Arg) single nucleotide variant not provided [RCV004790664]|not specified [RCV004426956] Chr9:32449016 [GRCh38]
Chr9:32449014 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.805C>T (p.Arg269Cys) single nucleotide variant not specified [RCV004426999] Chr9:32420862 [GRCh38]
Chr9:32420860 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.100C>T (p.Arg34Cys) single nucleotide variant not specified [RCV004426868] Chr9:32407263 [GRCh38]
Chr9:32407261 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1592T>C (p.Val531Ala) single nucleotide variant not specified [RCV004426909] Chr9:32430440 [GRCh38]
Chr9:32430438 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1015G>T (p.Ala339Ser) single nucleotide variant not specified [RCV004426871] Chr9:32423363 [GRCh38]
Chr9:32423361 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2488A>C (p.Thr830Pro) single nucleotide variant not specified [RCV004426952] Chr9:32449013 [GRCh38]
Chr9:32449011 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2515A>C (p.Ile839Leu) single nucleotide variant not specified [RCV004426971] Chr9:32449040 [GRCh38]
Chr9:32449038 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.346C>G (p.Pro116Ala) single nucleotide variant not specified [RCV004426986] Chr9:32408593 [GRCh38]
Chr9:32408591 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2034C>G (p.Asp678Glu) single nucleotide variant not specified [RCV004426919] Chr9:32434636 [GRCh38]
Chr9:32434634 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.244C>T (p.Arg82Cys) single nucleotide variant not specified [RCV004426948] Chr9:32407407 [GRCh38]
Chr9:32407405 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2495A>G (p.Gln832Arg) single nucleotide variant not specified [RCV004426959] Chr9:32449020 [GRCh38]
Chr9:32449018 [GRCh37]
Chr9:9p21.1		 likely benign
NM_002197.3(ACO1):c.2501G>A (p.Arg834Gln) single nucleotide variant not specified [RCV004426964] Chr9:32449026 [GRCh38]
Chr9:32449024 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.787A>T (p.Thr263Ser) single nucleotide variant not specified [RCV004426995] Chr9:32419166 [GRCh38]
Chr9:32419164 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.974G>A (p.Arg325His) single nucleotide variant not specified [RCV004427013] Chr9:32423322 [GRCh38]
Chr9:32423320 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.503G>A (p.Arg168Gln) single nucleotide variant not specified [RCV004426990] Chr9:32418356 [GRCh38]
Chr9:32418354 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.237G>T (p.Lys79Asn) single nucleotide variant not specified [RCV004602513] Chr9:32407400 [GRCh38]
Chr9:32407398 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1455C>G (p.Ser485Arg) single nucleotide variant not specified [RCV004607153] Chr9:32427407 [GRCh38]
Chr9:32427405 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.85G>T (p.Asp29Tyr) single nucleotide variant not provided [RCV004793154] Chr9:32405591 [GRCh38]
Chr9:32405589 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.367G>A (p.Val123Ile) single nucleotide variant not provided [RCV004793155] Chr9:32408614 [GRCh38]
Chr9:32408612 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.502C>T (p.Arg168Trp) single nucleotide variant not provided [RCV004793156] Chr9:32418355 [GRCh38]
Chr9:32418353 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.864G>T (p.Leu288Phe) single nucleotide variant not provided [RCV004793157] Chr9:32420921 [GRCh38]
Chr9:32420919 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.666T>C (p.Gly222=) single nucleotide variant not provided [RCV004811540] Chr9:32419045 [GRCh38]
Chr9:32419043 [GRCh37]
Chr9:9p21.1		 likely benign
NM_002197.3(ACO1):c.2311G>T (p.Gly771Cys) single nucleotide variant not specified [RCV004887527] Chr9:32440528 [GRCh38]
Chr9:32440526 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1167T>G (p.Phe389Leu) single nucleotide variant not specified [RCV004887534] Chr9:32424644 [GRCh38]
Chr9:32424642 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.1748A>G (p.Gln583Arg) single nucleotide variant not specified [RCV004887469] Chr9:32431740 [GRCh38]
Chr9:32431738 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2383G>A (p.Val795Ile) single nucleotide variant not specified [RCV004887480] Chr9:32448908 [GRCh38]
Chr9:32448906 [GRCh37]
Chr9:9p21.1		 likely benign
NM_002197.3(ACO1):c.1007A>G (p.Tyr336Cys) single nucleotide variant not specified [RCV004887520] Chr9:32423355 [GRCh38]
Chr9:32423353 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2591G>A (p.Arg864Lys) single nucleotide variant not specified [RCV004887487] Chr9:32450032 [GRCh38]
Chr9:32450030 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.157T>C (p.Phe53Leu) single nucleotide variant not specified [RCV004887543] Chr9:32407320 [GRCh38]
Chr9:32407318 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.151G>C (p.Asp51His) single nucleotide variant not specified [RCV004887564] Chr9:32407314 [GRCh38]
Chr9:32407312 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.362A>G (p.Asp121Gly) single nucleotide variant not specified [RCV004887565] Chr9:32408609 [GRCh38]
Chr9:32408607 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.64T>G (p.Phe22Val) single nucleotide variant not specified [RCV004887562] Chr9:32405570 [GRCh38]
Chr9:32405568 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2152G>C (p.Val718Leu) single nucleotide variant not specified [RCV004887552] Chr9:32436302 [GRCh38]
Chr9:32436300 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.908A>G (p.Tyr303Cys) single nucleotide variant not specified [RCV004887509] Chr9:32420965 [GRCh38]
Chr9:32420963 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.455A>G (p.Glu152Gly) single nucleotide variant not specified [RCV004887488] Chr9:32418178 [GRCh38]
Chr9:32418176 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.2401G>A (p.Glu801Lys) single nucleotide variant not specified [RCV004887492] Chr9:32448926 [GRCh38]
Chr9:32448924 [GRCh37]
Chr9:9p21.1		 uncertain significance
NM_002197.3(ACO1):c.781G>A (p.Val261Met) single nucleotide variant not specified [RCV004887499] Chr9:32419160 [GRCh38]
Chr9:32419158 [GRCh37]
Chr9:9p21.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2222
Count of miRNA genes:877
Interacting mature miRNAs:1025
Transcripts:ENST00000309951, ENST00000379923, ENST00000541043
Prediction methods: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
597617118GWAS1673978_Herythrocyte count QTL GWAS1673978 (human)3e-15erythrocyte countred blood cell count (CMO:0000025)93244397632443977Human
406980928GWAS629904_Hhematocrit QTL GWAS629904 (human)6e-19hematocrithematocrit (CMO:0000037)93242567832425679Human
597598556GWAS1655416_Hhemoglobin measurement QTL GWAS1655416 (human)4e-11hemoglobin measurementhemoglobin measurement (CMO:0000508)93245018932450190Human
597118354GWAS1214428_Herythrocyte count QTL GWAS1214428 (human)5e-10erythrocyte countred blood cell count (CMO:0000025)93241847532418476Human
597118353GWAS1214427_Herythrocyte count QTL GWAS1214427 (human)2e-14erythrocyte countred blood cell count (CMO:0000025)93241835532418356Human
407079045GWAS728021_Hpsoriasis QTL GWAS728021 (human)4e-09psoriasis93243297632432977Human
597077790GWAS1173864_Hblood protein measurement QTL GWAS1173864 (human)0.000008blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)93243690532436906Human
597296403GWAS1392477_Hhematocrit QTL GWAS1392477 (human)2e-16hematocrithematocrit (CMO:0000037)93245018932450190Human
407145034GWAS794010_Hasthma QTL GWAS794010 (human)0.000004asthma93243352832433529Human
597588814GWAS1645674_Hhematocrit QTL GWAS1645674 (human)1e-17hematocrithematocrit (CMO:0000037)93245018932450190Human
597579342GWAS1636202_Hhemoglobin measurement QTL GWAS1636202 (human)6e-18hemoglobin measurementhemoglobin measurement (CMO:0000508)93245018932450190Human
597047365GWAS1143439_Herythrocyte count QTL GWAS1143439 (human)6e-21erythrocyte countred blood cell count (CMO:0000025)93243193332431934Human
406944469GWAS593445_Hhematocrit QTL GWAS593445 (human)4e-27hematocrithematocrit (CMO:0000037)93245018932450190Human
597578315GWAS1635175_Hhemoglobin measurement QTL GWAS1635175 (human)2e-12hemoglobin measurementhemoglobin measurement (CMO:0000508)93245328032453281Human
597612998GWAS1669858_Herythrocyte count QTL GWAS1669858 (human)2e-11erythrocyte countred blood cell count (CMO:0000025)93245328032453281Human
597578695GWAS1635555_Hhematocrit QTL GWAS1635555 (human)4e-12hematocrithematocrit (CMO:0000037)93243725132437252Human
597113293GWAS1209367_Herythrocyte count QTL GWAS1209367 (human)6e-11erythrocyte countred blood cell count (CMO:0000025)93241835532418356Human
597282435GWAS1378509_Hhemoglobin measurement QTL GWAS1378509 (human)1e-15hemoglobin measurementhemoglobin measurement (CMO:0000508)93245018932450190Human
597578885GWAS1635745_Hhematocrit QTL GWAS1635745 (human)4e-15hematocrithematocrit (CMO:0000037)93243725132437252Human
597612025GWAS1668885_Herythrocyte count QTL GWAS1668885 (human)3e-14erythrocyte countred blood cell count (CMO:0000025)93243725132437252Human
406985000GWAS633976_Hhemoglobin measurement QTL GWAS633976 (human)2e-13hemoglobin measurementhemoglobin measurement (CMO:0000508)93241835532418356Human
597115772GWAS1211846_Hhemoglobin measurement QTL GWAS1211846 (human)3e-09hemoglobin measurementhemoglobin measurement (CMO:0000508)93241847532418476Human
406985001GWAS633977_Hhemoglobin measurement QTL GWAS633977 (human)1e-18hemoglobin measurementhemoglobin measurement (CMO:0000508)93242567832425679Human
407027055GWAS676031_Hserum IgG glycosylation measurement QTL GWAS676031 (human)0.000005serum IgG glycosylation measurement93242269232422693Human
406938161GWAS587137_Hhemoglobin measurement QTL GWAS587137 (human)4e-23hemoglobin measurementhemoglobin measurement (CMO:0000508)93245018932450190Human
597117094GWAS1213168_Hhemoglobin measurement QTL GWAS1213168 (human)1e-14hemoglobin measurementhemoglobin measurement (CMO:0000508)93241835532418356Human
597578666GWAS1635526_Hhemoglobin measurement QTL GWAS1635526 (human)2e-14hemoglobin measurementhemoglobin measurement (CMO:0000508)93245018932450190Human
597054755GWAS1150829_Hhematocrit QTL GWAS1150829 (human)1e-26hematocrithematocrit (CMO:0000037)93245018932450190Human
597304941GWAS1401015_Herythrocyte count QTL GWAS1401015 (human)9e-14erythrocyte countred blood cell count (CMO:0000025)93243193332431934Human
406978741GWAS627717_Hhemoglobin measurement QTL GWAS627717 (human)5e-23hemoglobin measurementhemoglobin measurement (CMO:0000508)93245018932450190Human
597274401GWAS1370475_Htriglyceride measurement QTL GWAS1370475 (human)1e-08triglyceride measurementblood triglyceride level (CMO:0000118)93245018932450190Human
406980927GWAS629903_Hhematocrit QTL GWAS629903 (human)1e-13hematocrithematocrit (CMO:0000037)93241835532418356Human

Markers in Region
RH70753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,450,631 - 32,450,796UniSTSGRCh37
Build 36932,440,631 - 32,440,796RGDNCBI36
Celera932,380,593 - 32,380,758RGD
Cytogenetic Map9p21.1UniSTS
HuRef932,406,421 - 32,406,586UniSTS
GeneMap99-GB4 RH Map9124.51UniSTS
RH119496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,435,818 - 32,436,088UniSTSGRCh37
Build 36932,425,818 - 32,426,088RGDNCBI36
Celera932,365,780 - 32,366,050RGD
Cytogenetic Map9p21.1UniSTS
HuRef932,391,607 - 32,391,877UniSTS
TNG Radiation Hybrid Map916825.0UniSTS
SHGC-146792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,384,946 - 32,385,238UniSTSGRCh37
Build 36932,374,946 - 32,375,238RGDNCBI36
Celera932,314,886 - 32,315,178RGD
Cytogenetic Map9p21.1UniSTS
HuRef932,340,682 - 32,340,974UniSTS
TNG Radiation Hybrid Map916708.0UniSTS
D9S1955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37932,450,223 - 32,450,349UniSTSGRCh37
Build 36932,440,223 - 32,440,349RGDNCBI36
Celera932,380,185 - 32,380,311RGD
Cytogenetic Map9p21.1UniSTS
HuRef932,406,013 - 32,406,139UniSTS
Stanford-G3 RH Map91328.0UniSTS
NCBI RH Map9396.7UniSTS
GeneMap99-G3 RH Map91375.0UniSTS


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 2252 4974 1726 2351 6 624 1950 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF261088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP287929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA103947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA409113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA780353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ496106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M58510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z11559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000309951   ⟹   ENSP00000309477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl932,384,643 - 32,454,769 (+)Ensembl
Ensembl Acc Id: ENST00000379923   ⟹   ENSP00000369255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl932,384,620 - 32,450,836 (+)Ensembl
Ensembl Acc Id: ENST00000541043   ⟹   ENSP00000438733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl932,384,603 - 32,450,832 (+)Ensembl
RefSeq Acc Id: NM_001278352   ⟹   NP_001265281
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,384,643 - 32,454,769 (+)NCBI
GRCh37932,384,601 - 32,450,834 (+)NCBI
HuRef932,340,337 - 32,406,624 (+)NCBI
CHM1_1932,384,455 - 32,450,692 (+)NCBI
T2T-CHM13v2.0932,400,543 - 32,470,694 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001362840   ⟹   NP_001349769
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,384,643 - 32,454,769 (+)NCBI
T2T-CHM13v2.0932,400,543 - 32,470,694 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002197   ⟹   NP_002188
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,384,643 - 32,454,769 (+)NCBI
GRCh37932,384,601 - 32,450,834 (+)ENTREZGENE
Build 36932,374,650 - 32,440,830 (+)NCBI Archive
HuRef932,340,337 - 32,406,624 (+)ENTREZGENE
CHM1_1932,384,455 - 32,450,692 (+)NCBI
T2T-CHM13v2.0932,400,543 - 32,470,694 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423430   ⟹   XP_047279386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,399,547 - 32,454,769 (+)NCBI
RefSeq Acc Id: XM_054363006   ⟹   XP_054218981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0932,415,451 - 32,470,694 (+)NCBI
RefSeq Acc Id: XM_054363007   ⟹   XP_054218982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0932,420,970 - 32,470,694 (+)NCBI
RefSeq Acc Id: NP_002188   ⟸   NM_002197
- UniProtKB: Q14652 (UniProtKB/Swiss-Prot),   D3DRK7 (UniProtKB/Swiss-Prot),   Q5VZA7 (UniProtKB/Swiss-Prot),   P21399 (UniProtKB/Swiss-Prot),   V9HWB7 (UniProtKB/TrEMBL),   Q9HBB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265281   ⟸   NM_001278352
- UniProtKB: Q14652 (UniProtKB/Swiss-Prot),   D3DRK7 (UniProtKB/Swiss-Prot),   Q5VZA7 (UniProtKB/Swiss-Prot),   P21399 (UniProtKB/Swiss-Prot),   Q9HBB2 (UniProtKB/TrEMBL),   V9HWB7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001349769   ⟸   NM_001362840
- UniProtKB: Q14652 (UniProtKB/Swiss-Prot),   P21399 (UniProtKB/Swiss-Prot),   D3DRK7 (UniProtKB/Swiss-Prot),   Q5VZA7 (UniProtKB/Swiss-Prot),   V9HWB7 (UniProtKB/TrEMBL),   Q9HBB2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000438733   ⟸   ENST00000541043
Ensembl Acc Id: ENSP00000309477   ⟸   ENST00000309951
Ensembl Acc Id: ENSP00000369255   ⟸   ENST00000379923
RefSeq Acc Id: XP_047279386   ⟸   XM_047423430
- Peptide Label: isoform X1
- UniProtKB: Q9HBB2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218981   ⟸   XM_054363006
- Peptide Label: isoform X1
- UniProtKB: Q9HBB2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218982   ⟸   XM_054363007
- Peptide Label: isoform X2
- UniProtKB: Q14652 (UniProtKB/Swiss-Prot),   P21399 (UniProtKB/Swiss-Prot),   D3DRK7 (UniProtKB/Swiss-Prot),   Q5VZA7 (UniProtKB/Swiss-Prot),   Q9HBB2 (UniProtKB/TrEMBL),   V9HWB7 (UniProtKB/TrEMBL)
Protein Domains
Aconitase A/isopropylmalate dehydratase small   Aconitase/3-isopropylmalate dehydratase large

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P21399-F1-model_v2 AlphaFold P21399 1-889 view protein structure

Promoters
RGD ID:6807523
Promoter ID:HG_KWN:62870
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:ENST00000379921,   OTTHUMT00000051998,   UC003ZQX.2,   UC003ZQY.2,   UC010MJH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36932,374,444 - 32,374,944 (+)MPROMDB
RGD ID:7214845
Promoter ID:EPDNEW_H13168
Type:initiation region
Name:ACO1_1
Description:aconitase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13167  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38932,384,651 - 32,384,711EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:117 AgrOrtholog
COSMIC ACO1 COSMIC
Ensembl Genes ENSG00000122729 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000309951 ENTREZGENE
  ENST00000309951.8 UniProtKB/Swiss-Prot
  ENST00000379923 ENTREZGENE
  ENST00000379923.5 UniProtKB/Swiss-Prot
  ENST00000541043 ENTREZGENE
  ENST00000541043.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.20.19.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.499.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.190.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000122729 GTEx
HGNC ID HGNC:117 ENTREZGENE
Human Proteome Map ACO1 Human Proteome Map
InterPro AcnA_IRP_Swivel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acnase/IPM_dHydase_lsu_aba_1/3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acoase/IPM_deHydtase_lsu_aba UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aconitase/3IPM_dehydase_swvl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aconitase/IRP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aconitase_4Fe-4S_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aconitase_4Fe-4S_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AconitaseA/IPMdHydase_ssu_swvl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:48 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 48 ENTREZGENE
OMIM 100880 OMIM
PANTHER PTHR11670 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aconitase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aconitase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24442 PharmGKB
PRINTS ACONITASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ACONITASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACONITASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP LeuD/IlvD-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53732 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACOC_HUMAN UniProtKB/Swiss-Prot
  D3DRK7 ENTREZGENE
  P21399 ENTREZGENE
  Q14652 ENTREZGENE
  Q5VZA7 ENTREZGENE
  Q9HBB2 ENTREZGENE, UniProtKB/TrEMBL
  V9HWB7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary D3DRK7 UniProtKB/Swiss-Prot
  Q14652 UniProtKB/Swiss-Prot
  Q5VZA7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ACO1  aconitase 1  ACO1  aconitase 1, soluble  Symbol and/or name change 5135510 APPROVED