ATP5F1A (ATP synthase F1 subunit alpha) - Rat Genome Database

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Gene: ATP5F1A (ATP synthase F1 subunit alpha) Homo sapiens
Analyze
Symbol: ATP5F1A
Name: ATP synthase F1 subunit alpha
RGD ID: 734400
HGNC Page HGNC:823
Description: Enables MHC class I protein binding activity and angiostatin binding activity. Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in negative regulation of endothelial cell proliferation; positive regulation of blood vessel endothelial cell migration; and proton motive force-driven mitochondrial ATP synthesis. Located in COP9 signalosome; mitochondrial inner membrane; and plasma membrane. Part of mitochondrial proton-transporting ATP synthase complex. Implicated in combined oxidative phosphorylation deficiency 22; mitochondrial complex V (ATP synthase) deficiency nuclear type 4A; and mitochondrial complex V (ATP synthase) deficiency nuclear type 4B. Biomarker of vascular dementia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP synthase alpha chain, mitochondrial; ATP synthase subunit alpha, mitochondrial; ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle; ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle; ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2; ATP sythase (F1-ATPase) alpha subunit; ATP5A; ATP5A1; ATP5AL2; ATPM; COXPD22; epididymis secretory sperm binding protein Li 123m; hATP1; HEL-S-123m; MC5DN4; MC5DN4A; MC5DN4B; mitochondrial ATP synthetase, oligomycin-resistant; mitochondrial h+-atp synthase alpha subunit; MOM2; OMR; ORM
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ATP5F1AP1   ATP5F1AP10   ATP5F1AP2   ATP5F1AP3   ATP5F1AP4   ATP5F1AP7   ATP5F1AP8  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381846,080,248 - 46,104,227 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1846,080,248 - 46,104,334 (-)EnsemblGRCh38hg38GRCh38
GRCh371843,660,214 - 43,684,193 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361841,918,108 - 41,938,197 (-)NCBINCBI36Build 36hg18NCBI36
Build 341841,918,107 - 41,932,285NCBI
Celera1840,472,298 - 40,486,450 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1840,521,726 - 40,541,788 (-)NCBIHuRef
CHM1_11843,591,321 - 43,611,335 (-)NCBICHM1_1
T2T-CHM13v2.01846,271,209 - 46,295,188 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(R)-adrenaline  (ISO)
(S)-nicotine  (ISO)
(Z)-3-butylidenephthalide  (EXP)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dinitrotoluene  (ISO)
2-tert-butylhydroquinone  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,3'-diindolylmethane  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (EXP)
5-Hydroxythalidomide  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
7H-xanthine  (ISO)
9H-xanthine  (ISO)
acrolein  (ISO)
aldehydo-D-glucose  (ISO)
alpha-D-galactose  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
arsenous acid  (EXP,ISO)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
cadmium dichloride  (ISO)
calycosin  (ISO)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chromium(6+)  (EXP)
cisplatin  (ISO)
clobetasol  (ISO)
cocaine  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
D-glucose  (ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP,ISO)
dibenzo[a,l]pyrene  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dihydroartemisinin  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP,ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
galactose  (ISO)
gentamycin  (ISO)
glucose  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
indometacin  (EXP)
isoflavones  (ISO)
isopimaric acid  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
lenvatinib  (ISO)
maneb  (ISO)
methanol  (ISO)
methimazole  (ISO)
minocycline  (ISO)
mitoxantrone  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
niclosamide  (EXP)
nicotine  (ISO)
nitroglycerin  (ISO)
Nivalenol  (ISO)
ochratoxin A  (ISO)
okadaic acid  (EXP)
ouabain  (EXP)
oxybenzone  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
permethrin  (ISO)
phenobarbital  (EXP,ISO)
phlorizin  (ISO)
pinostrobin  (EXP)
pramipexole  (ISO)
Pyridostigmine bromide  (ISO)
pyruvic acid  (ISO)
quercetin  (EXP)
regorafenib  (ISO)
resveratrol  (EXP,ISO)
rotenone  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (ISO)
T-2 toxin  (ISO)
tamoxifen  (ISO)
tanespimycin  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
Triptolide  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
3-Methylglutaconic aciduria  (IAGP)
Absent speech  (IAGP)
Acute encephalopathy  (IAGP)
Anemia  (IAGP)
Apnea  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blindness  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral palsy  (IAGP)
Chronic diarrhea  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Decreased activity of mitochondrial ATP synthase complex  (IAGP)
Decreased activity of mitochondrial complex I  (IAGP)
Decreased activity of mitochondrial complex III  (IAGP)
Decreased activity of mitochondrial complex IV  (IAGP)
Depletion of mitochondrial DNA in muscle tissue  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Encephalopathy  (IAGP)
Exercise intolerance  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Generalized dystonia  (IAGP)
Global developmental delay  (IAGP)
Hepatomegaly  (IAGP)
High-pitched cry  (IAGP)
Hyperalaninemia  (IAGP)
Hyperammonemia  (IAGP)
Hyperglutamatemia  (IAGP)
Hyperglycinemia  (IAGP)
Hyperprolinemia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoargininemia  (IAGP)
Hypogonadism  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Increased circulating lactate concentration  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Irritability  (IAGP)
Lactic acidosis  (IAGP)
Lethargy  (IAGP)
Low plasma citrulline  (IAGP)
Microcephaly  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Myoclonic seizure  (IAGP)
Neonatal death  (IAGP)
Neonatal onset  (IAGP)
Neurodevelopmental delay  (IAGP)
Nystagmus  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Oroticaciduria  (IAGP)
Paraparesis  (IAGP)
Peripheral neuropathy  (IAGP)
Ptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary hypoplasia  (IAGP)
Renal hypoplasia  (IAGP)
Respiratory distress  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short stature  (IAGP)
Spastic ataxia  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Strabismus  (IAGP)
Tetraplegia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Glutamine enema regulates colonic ubiquitinated proteins but not proteasome activities during TNBS-induced colitis leading to increased mitochondrial activity. Bertrand J, etal., Proteomics. 2015 Jul;15(13):2198-210. doi: 10.1002/pmic.201400304. Epub 2015 Mar 17.
2. Proteomic study of calpain interacting proteins during skeletal muscle aging. Brulé C, etal., Biochimie. 2010 Dec;92(12):1923-33. doi: 10.1016/j.biochi.2010.09.003. Epub 2010 Sep 17.
3. Hypoxia affects mitochondrial protein expression in rat skeletal muscle. Chen J, etal., OMICS. 2012 Mar;16(3):98-104. doi: 10.1089/omi.2011.0023.
4. Diabetes-induced abnormalities of mitochondrial function in rat brain cortex: the effect of n-3 fatty acid diet. Chomova M, etal., Mol Cell Biochem. 2017 Nov;435(1-2):109-131. doi: 10.1007/s11010-017-3061-6. Epub 2017 May 19.
5. Novel pathophysiological markers are revealed by iTRAQ-based quantitative clinical proteomics approach in vascular dementia. Datta A, etal., J Proteomics. 2014 Mar 17;99:54-67. doi: 10.1016/j.jprot.2014.01.011. Epub 2014 Jan 19.
6. Gender-specific effects of intrauterine growth restriction on the adipose tissue of adult rats: a proteomic approach. de Souza AP, etal., Proteome Sci. 2015 Dec 2;13:32. doi: 10.1186/s12953-015-0088-z. eCollection 2015.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Mesenchymal stem cells restore lung function by recruiting resident and nonresident proteins. Jungebluth P, etal., Cell Transplant. 2011;20(10):1561-74. doi: 10.3727/096368910X557254. Epub 2011 Mar 7.
9. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
10. Exposure to a northern contaminant mixture (NCM) alters hepatic energy and lipid metabolism exacerbating hepatic steatosis in obese JCR rats. Mailloux RJ, etal., PLoS One. 2014 Sep 15;9(9):e106832. doi: 10.1371/journal.pone.0106832. eCollection 2014.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
13. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
14. Application of a discovery to targeted LC-MS proteomics approach to identify deregulated proteins associated with idiosyncratic liver toxicity in a rat model of LPS/diclofenac co-administration. Ramm S, etal., Toxicology. 2015 May 4;331:100-11. doi: 10.1016/j.tox.2015.03.004. Epub 2015 Mar 13.
15. Proteomic identification of HNE-bound proteins in early Alzheimer disease: Insights into the role of lipid peroxidation in the progression of AD. Reed TT, etal., Brain Res. 2009 Jun 5;1274:66-76. doi: 10.1016/j.brainres.2009.04.009. Epub 2009 Apr 15.
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. Compromised mitochondrial remodeling in compensatory hypertrophied myocardium of spontaneously hypertensive rat. Tang Y, etal., Cardiovasc Pathol. 2013 Nov 14. pii: S1054-8807(13)00200-7. doi: 10.1016/j.carpath.2013.11.002.
20. Protein Drug Targets of Lavandula angustifolia on treatment of Rat Alzheimer's Disease. Zali H, etal., Iran J Pharm Res. 2015 Winter;14(1):291-302.
Additional References at PubMed
PMID:1602151   PMID:1830491   PMID:4517936   PMID:7498159   PMID:8065448   PMID:8086450   PMID:8168843   PMID:8428659   PMID:9284928   PMID:9461222   PMID:9834036   PMID:10077593  
PMID:11381144   PMID:11410595   PMID:11741979   PMID:12110673   PMID:12477932   PMID:12601813   PMID:12614671   PMID:14702039   PMID:14744259   PMID:14749816   PMID:15047060   PMID:15161933  
PMID:15324660   PMID:15489334   PMID:15862967   PMID:15952740   PMID:16009940   PMID:16196087   PMID:16344560   PMID:16378738   PMID:16714292   PMID:17148452   PMID:17620599   PMID:17623298  
PMID:17643490   PMID:18457437   PMID:18781797   PMID:18850735   PMID:19016746   PMID:19056867   PMID:19064571   PMID:19110265   PMID:19135240   PMID:19261598   PMID:19285951   PMID:19343720  
PMID:19405953   PMID:19460752   PMID:19531213   PMID:19688755   PMID:19717637   PMID:19738201   PMID:19946888   PMID:20020773   PMID:20085233   PMID:20186120   PMID:20381070   PMID:20462248  
PMID:20473970   PMID:20547883   PMID:20618440   PMID:20819778   PMID:20833797   PMID:20877624   PMID:21080425   PMID:21081503   PMID:21081666   PMID:21106936   PMID:21139048   PMID:21145461  
PMID:21319273   PMID:21481781   PMID:21528130   PMID:21565611   PMID:21575865   PMID:21817160   PMID:21825151   PMID:21832049   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21963094  
PMID:21979464   PMID:21987572   PMID:21988832   PMID:22098431   PMID:22113938   PMID:22188235   PMID:22268729   PMID:22309213   PMID:22496890   PMID:22505724   PMID:22658674   PMID:22865885  
PMID:22939629   PMID:22944692   PMID:23000965   PMID:23055519   PMID:23125841   PMID:23181366   PMID:23246001   PMID:23254330   PMID:23364796   PMID:23376485   PMID:23395605   PMID:23398456  
PMID:23402259   PMID:23428871   PMID:23443559   PMID:23455922   PMID:23463506   PMID:23533145   PMID:23596069   PMID:23599390   PMID:23667531   PMID:23686814   PMID:23798571   PMID:23874603  
PMID:23979707   PMID:24140708   PMID:24189400   PMID:24244333   PMID:24654937   PMID:24711643   PMID:24797263   PMID:24816145   PMID:25015289   PMID:25071155   PMID:25147182   PMID:25192599  
PMID:25315684   PMID:25324306   PMID:25416956   PMID:25437307   PMID:25458010   PMID:25670202   PMID:25737280   PMID:25756610   PMID:25798074   PMID:25852190   PMID:25865307   PMID:25921289  
PMID:25963833   PMID:25999424   PMID:26170170   PMID:26186194   PMID:26209609   PMID:26217791   PMID:26246018   PMID:26291670   PMID:26297831   PMID:26344197   PMID:26358770   PMID:26465331  
PMID:26496610   PMID:26526033   PMID:26561776   PMID:26618866   PMID:26643866   PMID:26687479   PMID:26769832   PMID:26777405   PMID:26972000   PMID:26990986   PMID:27025967   PMID:27229929  
PMID:27342126   PMID:27462432   PMID:27499296   PMID:27503909   PMID:27591049   PMID:27684187   PMID:27856255   PMID:27880917   PMID:28186131   PMID:28298427   PMID:28302793   PMID:28443643  
PMID:28514442   PMID:28515276   PMID:28561026   PMID:28578353   PMID:28581483   PMID:28685749   PMID:28687786   PMID:28916538   PMID:28973437   PMID:28977666   PMID:28986522   PMID:29207195  
PMID:29229926   PMID:29298432   PMID:29331416   PMID:29435596   PMID:29467282   PMID:29507755   PMID:29509794   PMID:29568061   PMID:29791485   PMID:29844126   PMID:29845934   PMID:29859926  
PMID:29955894   PMID:30009671   PMID:30021884   PMID:30033366   PMID:30154076   PMID:30196744   PMID:30209976   PMID:30251372   PMID:30442662   PMID:30455355   PMID:30459231   PMID:30463901  
PMID:30503554   PMID:30538797   PMID:30561431   PMID:30575818   PMID:30581152   PMID:30590033   PMID:30669930   PMID:30745168   PMID:30804502   PMID:30809309   PMID:30833792   PMID:30865227  
PMID:30890647   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31067453   PMID:31086314   PMID:31091453   PMID:31108370   PMID:31180492   PMID:31239290   PMID:31267705   PMID:31300519  
PMID:31353912   PMID:31405213   PMID:31409639   PMID:31501420   PMID:31527615   PMID:31536960   PMID:31586073   PMID:31665637   PMID:31792442   PMID:31952546   PMID:31980649   PMID:31992359  
PMID:31995728   PMID:32019549   PMID:32041737   PMID:32129710   PMID:32322062   PMID:32347575   PMID:32529326   PMID:32552912   PMID:32628020   PMID:32665550   PMID:32687490   PMID:32694731  
PMID:32807901   PMID:32814053   PMID:32814769   PMID:32877691   PMID:32888949   PMID:32929329   PMID:32994395   PMID:33022573   PMID:33024031   PMID:33074477   PMID:33194618   PMID:33226137  
PMID:33403043   PMID:33545068   PMID:33567341   PMID:33644029   PMID:33658012   PMID:33660365   PMID:33729478   PMID:33762435   PMID:33766124   PMID:33838681   PMID:33916271   PMID:33961781  
PMID:34079125   PMID:34373451   PMID:34376679   PMID:34483339   PMID:34520292   PMID:34650049   PMID:34709727   PMID:34728620   PMID:35012549   PMID:35013218   PMID:35124280   PMID:35182466  
PMID:35241646   PMID:35256949   PMID:35271311   PMID:35391932   PMID:35446349   PMID:35509820   PMID:35546148   PMID:35562734   PMID:35563538   PMID:35676659   PMID:35681168   PMID:35687106  
PMID:35819319   PMID:35831314   PMID:35831895   PMID:35844135   PMID:35864588   PMID:35895804   PMID:35914814   PMID:35944360   PMID:35977942   PMID:36042349   PMID:36055981   PMID:36057605  
PMID:36114006   PMID:36129980   PMID:36147463   PMID:36168627   PMID:36180527   PMID:36180891   PMID:36199071   PMID:36215168   PMID:36244648   PMID:36282215   PMID:36339263   PMID:36373674  
PMID:36398662   PMID:36424410   PMID:36511343   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36590901   PMID:36629882   PMID:36636478   PMID:36640659   PMID:36755387   PMID:36811957  
PMID:36912080   PMID:36964488   PMID:37120454   PMID:37616343   PMID:37689310   PMID:37827155   PMID:37866880   PMID:38016997   PMID:38113892  


Genomics

Comparative Map Data
ATP5F1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381846,080,248 - 46,104,227 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1846,080,248 - 46,104,334 (-)EnsemblGRCh38hg38GRCh38
GRCh371843,660,214 - 43,684,193 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361841,918,108 - 41,938,197 (-)NCBINCBI36Build 36hg18NCBI36
Build 341841,918,107 - 41,932,285NCBI
Celera1840,472,298 - 40,486,450 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1840,521,726 - 40,541,788 (-)NCBIHuRef
CHM1_11843,591,321 - 43,611,335 (-)NCBICHM1_1
T2T-CHM13v2.01846,271,209 - 46,295,188 (-)NCBIT2T-CHM13v2.0
Atp5f1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391877,861,468 - 77,870,569 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1877,861,429 - 77,870,569 (+)EnsemblGRCm39 Ensembl
GRCm381877,773,768 - 77,782,869 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1877,773,729 - 77,782,869 (+)EnsemblGRCm38mm10GRCm38
MGSCv371878,012,507 - 78,021,608 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361877,978,093 - 77,986,942 (+)NCBIMGSCv36mm8
Celera1878,959,749 - 78,968,850 (+)NCBICelera
Cytogenetic Map18E3NCBI
cM Map1852.38NCBI
Atp5f1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81873,567,537 - 73,575,473 (+)NCBIGRCr8
mRatBN7.21871,292,406 - 71,300,342 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1871,292,374 - 71,300,794 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1873,391,830 - 73,399,766 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01874,061,095 - 74,069,031 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01871,917,686 - 71,925,622 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01874,156,553 - 74,164,490 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1874,156,553 - 74,164,495 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01873,830,604 - 73,838,477 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41874,735,267 - 74,743,088 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11874,808,539 - 74,816,361 (+)NCBI
Celera1869,811,132 - 69,819,068 (+)NCBICelera
Cytogenetic Map18q12.3NCBI
Atp5f1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540231,651,960 - 31,662,762 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540231,652,226 - 31,662,114 (-)NCBIChiLan1.0ChiLan1.0
ATP5F1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21763,508,983 - 63,523,359 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11849,201,584 - 49,215,960 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01839,366,384 - 39,380,514 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11842,904,136 - 42,918,626 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1842,904,136 - 42,923,326 (-)Ensemblpanpan1.1panPan2
ATP5F1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1745,118,188 - 45,127,048 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl745,117,657 - 45,127,048 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha744,600,134 - 44,608,995 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0745,071,120 - 45,079,950 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl745,071,075 - 45,079,951 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1744,770,243 - 44,779,076 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0744,823,645 - 44,832,526 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0745,108,044 - 45,116,902 (+)NCBIUU_Cfam_GSD_1.0
Atp5f1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494441,415,655 - 41,425,434 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936517742,791 - 753,336 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936517743,036 - 752,836 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP5F1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl195,733,090 - 95,750,841 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1195,738,789 - 95,750,835 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21105,944,306 - 105,955,798 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATP5F1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11834,815,924 - 34,828,052 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1834,816,027 - 34,830,924 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660509,183,131 - 9,195,639 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atp5f1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247789,773,064 - 9,784,533 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247789,773,365 - 9,784,564 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATP5F1A
176 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln) single nucleotide variant ATP5F1A-related condition [RCV002252689]|Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A [RCV003226477]|not provided [RCV001544652] Chr18:46089671 [GRCh38]
Chr18:43669637 [GRCh37]
Chr18:18q21.1		 pathogenic|uncertain significance
NM_004046.6(ATP5F1A):c.1502C>T (p.Pro501Leu) single nucleotide variant Inborn genetic diseases [RCV003353007]|not provided [RCV000728211] Chr18:46084582 [GRCh38]
Chr18:43664548 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.985C>T (p.Arg329Cys) single nucleotide variant Mitochondrial complex V (ATP synthase) deficiency nuclear type 4 [RCV000043508] Chr18:46087199 [GRCh38]
Chr18:43667165 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:45541699-46697357)x3 copy number gain See cases [RCV000052569] Chr18:45541699..46697357 [GRCh38]
Chr18:43121664..44277320 [GRCh37]
Chr18:41375662..42531318 [NCBI36]
Chr18:18q12.3-21.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1 copy number loss See cases [RCV000053831] Chr18:36859191..47164436 [GRCh38]
Chr18:34439154..44690807 [GRCh37]
Chr18:32693152..42944805 [NCBI36]
Chr18:18q12.2-21.1		 pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:40718750-47042515)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053832]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053832]|See cases [RCV000053832] Chr18:40718750..47042515 [GRCh38]
Chr18:38298714..44568886 [GRCh37]
Chr18:36552712..42822884 [NCBI36]
Chr18:18q12.3-21.1		 pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:40718750-48354407)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053833]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053833]|See cases [RCV000053833] Chr18:40718750..48354407 [GRCh38]
Chr18:38298714..45880778 [GRCh37]
Chr18:36552712..44134776 [NCBI36]
Chr18:18q12.3-21.1		 pathogenic
NM_004046.6(ATP5F1A):c.962A>G (p.Tyr321Cys) single nucleotide variant Combined oxidative phosphorylation deficiency 22 [RCV000144489] Chr18:46087222 [GRCh38]
Chr18:43667188 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:42335174-46726460)x1 copy number loss See cases [RCV000136771] Chr18:42335174..46726460 [GRCh38]
Chr18:39915139..44306423 [GRCh37]
Chr18:38169137..42560421 [NCBI36]
Chr18:18q12.3-21.1		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:43833480-46144138)x1 copy number loss See cases [RCV000141093] Chr18:43833480..46144138 [GRCh38]
Chr18:41413445..43724104 [GRCh37]
Chr18:39667443..41978102 [NCBI36]
Chr18:18q12.3-21.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1 copy number loss See cases [RCV000142696] Chr18:41722823..49043887 [GRCh38]
Chr18:39302787..46570257 [GRCh37]
Chr18:37556785..44824255 [NCBI36]
Chr18:18q12.3-21.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
NM_004046.6(ATP5F1A):c.378G>T (p.Lys126Asn) single nucleotide variant not specified [RCV000203078] Chr18:46089928 [GRCh38]
Chr18:43669894 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_004046.6(ATP5F1A):c.228T>C (p.Ser76=) single nucleotide variant not provided [RCV002232726]|not specified [RCV000599843] Chr18:46091763 [GRCh38]
Chr18:43671729 [GRCh37]
Chr18:18q21.1		 likely benign
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_004046.6(ATP5F1A):c.1581-23G>A single nucleotide variant not provided [RCV001567556] Chr18:46084386 [GRCh38]
Chr18:43664352 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.834G>A (p.Thr278=) single nucleotide variant not provided [RCV001722627] Chr18:46087458 [GRCh38]
Chr18:43667424 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.990A>G (p.Arg330=) single nucleotide variant not specified [RCV000599773] Chr18:46087194 [GRCh38]
Chr18:43667160 [GRCh37]
Chr18:18q21.1		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_004046.6(ATP5F1A):c.-28A>G single nucleotide variant not specified [RCV000434326] Chr18:46098259 [GRCh38]
Chr18:43678225 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_004046.6(ATP5F1A):c.564A>G (p.Pro188=) single nucleotide variant not provided [RCV000676988]|not specified [RCV000427510] Chr18:46089652 [GRCh38]
Chr18:43669618 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.140-4A>G single nucleotide variant ATP5F1A-related condition [RCV003912642]|not provided [RCV000676991]|not specified [RCV000431171] Chr18:46091855 [GRCh38]
Chr18:43671821 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1177-20C>T single nucleotide variant not specified [RCV000434492] Chr18:46086514 [GRCh38]
Chr18:43666480 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1581-20C>T single nucleotide variant not provided [RCV001712236] Chr18:46084383 [GRCh38]
Chr18:43664349 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_004046.6(ATP5F1A):c.1429+19C>A single nucleotide variant not provided [RCV002230035]|not specified [RCV000438535] Chr18:46086094 [GRCh38]
Chr18:43666060 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_004046.6(ATP5F1A):c.483+15C>T single nucleotide variant not provided [RCV000514619]|not specified [RCV000438628] Chr18:46089808 [GRCh38]
Chr18:43669774 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_004046.6(ATP5F1A):c.667A>G (p.Ile223Val) single nucleotide variant ATP5F1A-related condition [RCV003972608]|not provided [RCV000676987] Chr18:46088241 [GRCh38]
Chr18:43668207 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_004046.6(ATP5F1A):c.-39T>C single nucleotide variant not specified [RCV000418642] Chr18:46098270 [GRCh38]
Chr18:43678236 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.-32G>T single nucleotide variant not specified [RCV000425003] Chr18:46098263 [GRCh38]
Chr18:43678229 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.310-18A>G single nucleotide variant not provided [RCV002230234]|not specified [RCV000425071] Chr18:46090014 [GRCh38]
Chr18:43669980 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1257C>A (p.Ser419=) single nucleotide variant not specified [RCV000432176] Chr18:46086414 [GRCh38]
Chr18:43666380 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.267T>C (p.Asn89=) single nucleotide variant not provided [RCV000890837]|not specified [RCV000439604] Chr18:46091724 [GRCh38]
Chr18:43671690 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_004046.6(ATP5F1A):c.-65C>T single nucleotide variant not specified [RCV000419885] Chr18:46098296 [GRCh38]
Chr18:43678262 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1257C>T (p.Ser419=) single nucleotide variant not provided [RCV003727725]|not specified [RCV000429712] Chr18:46086414 [GRCh38]
Chr18:43666380 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.94G>T (p.Ala32Ser) single nucleotide variant ATP5F1A-related condition [RCV003922748]|not provided [RCV000676992]|not specified [RCV000436743] Chr18:46095098 [GRCh38]
Chr18:43675064 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1567T>C (p.Leu523=) single nucleotide variant not provided [RCV003766392]|not specified [RCV000440611] Chr18:46084517 [GRCh38]
Chr18:43664483 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001001937.2(ATP5F1A):c.-56A>G single nucleotide variant not specified [RCV000444268] Chr18:46104144 [GRCh38]
Chr18:43684110 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.828G>A (p.Ser276=) single nucleotide variant not provided [RCV001703722] Chr18:46087464 [GRCh38]
Chr18:43667430 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.-31C>T single nucleotide variant not specified [RCV000426717] Chr18:46098262 [GRCh38]
Chr18:43678228 [GRCh37]
Chr18:18q21.1		 likely benign
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
NM_004046.6(ATP5F1A):c.620G>A (p.Arg207His) single nucleotide variant Lactic acidosis [RCV001293385]|Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A [RCV003226313]|not provided [RCV000497633] Chr18:46089596 [GRCh38]
Chr18:43669562 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
NM_004046.6(ATP5F1A):c.1176+1G>C single nucleotide variant Combined oxidative phosphorylation deficiency 22 [RCV001809449]|not provided [RCV000493123] Chr18:46087007 [GRCh38]
Chr18:43666973 [GRCh37]
Chr18:18q21.1		 likely pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 copy number gain See cases [RCV000511124] Chr18:24835114..46917217 [GRCh37]
Chr18:18q11.2-21.1		 likely benign
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_004046.6(ATP5F1A):c.-9A>T single nucleotide variant not specified [RCV000601485] Chr18:46098240 [GRCh38]
Chr18:43678206 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr) single nucleotide variant ATP5F1A-related condition [RCV003902819]|not provided [RCV000514561]|not specified [RCV000608992] Chr18:46098207 [GRCh38]
Chr18:43678173 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_004046.6(ATP5F1A):c.1176+5T>G single nucleotide variant not provided [RCV002263828]|not specified [RCV000615937] Chr18:46087003 [GRCh38]
Chr18:43666969 [GRCh37]
Chr18:18q21.1		 likely benign|conflicting interpretations of pathogenicity
NM_004046.6(ATP5F1A):c.310-15G>A single nucleotide variant not provided [RCV001707767] Chr18:46090011 [GRCh38]
Chr18:43669977 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.45T>A (p.Pro15=) single nucleotide variant not provided [RCV001698000] Chr18:46098187 [GRCh38]
Chr18:43678153 [GRCh37]
Chr18:18q21.1		 benign|likely benign
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
NM_004046.6(ATP5F1A):c.248G>A (p.Arg83His) single nucleotide variant not provided [RCV000676990] Chr18:46091743 [GRCh38]
Chr18:43671709 [GRCh37]
Chr18:18q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004046.6(ATP5F1A):c.483+2T>C single nucleotide variant not provided [RCV000676989] Chr18:46089821 [GRCh38]
Chr18:43669787 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 copy number gain not provided [RCV000684057] Chr18:35866313..55082983 [GRCh37]
Chr18:18q12.2-21.31		 pathogenic
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
NM_004046.6(ATP5F1A):c.800-70A>G single nucleotide variant not provided [RCV001666867] Chr18:46087562 [GRCh38]
Chr18:43667528 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1176+22G>T single nucleotide variant not provided [RCV001680040] Chr18:46086986 [GRCh38]
Chr18:43666952 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.139+140T>A single nucleotide variant not provided [RCV001645482] Chr18:46094913 [GRCh38]
Chr18:43674879 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_004046.6(ATP5F1A):c.1177-168C>T single nucleotide variant not provided [RCV001581739] Chr18:46086662 [GRCh38]
Chr18:43666628 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1580+23C>A single nucleotide variant not provided [RCV001566534] Chr18:46084481 [GRCh38]
Chr18:43664447 [GRCh37]
Chr18:18q21.1		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_004046.6(ATP5F1A):c.1284+44T>C single nucleotide variant not provided [RCV001567059] Chr18:46086343 [GRCh38]
Chr18:43666309 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.650+45C>T single nucleotide variant not provided [RCV001725350] Chr18:46089521 [GRCh38]
Chr18:43669487 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1429+287T>G single nucleotide variant not provided [RCV001568848] Chr18:46085826 [GRCh38]
Chr18:43665792 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.310-228A>G single nucleotide variant not provided [RCV000843485] Chr18:46090224 [GRCh38]
Chr18:43670190 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.114C>T (p.Ala38=) single nucleotide variant not provided [RCV000827380] Chr18:46095078 [GRCh38]
Chr18:43675044 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.140-241C>T single nucleotide variant not provided [RCV000832296] Chr18:46092092 [GRCh38]
Chr18:43672058 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001001937.2(ATP5F1A):c.-48-380C>G single nucleotide variant not provided [RCV000843478] Chr18:46098659 [GRCh38]
Chr18:43678625 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.61-267A>G single nucleotide variant not provided [RCV000843479] Chr18:46095398 [GRCh38]
Chr18:43675364 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.140-198A>G single nucleotide variant not provided [RCV000843481] Chr18:46092049 [GRCh38]
Chr18:43672015 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.309+248A>G single nucleotide variant not provided [RCV000843482] Chr18:46091434 [GRCh38]
Chr18:43671400 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1176+188G>A single nucleotide variant not provided [RCV000843493] Chr18:46086820 [GRCh38]
Chr18:43666786 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1176+200A>G single nucleotide variant not provided [RCV000843494] Chr18:46086808 [GRCh38]
Chr18:43666774 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.276A>G (p.Ala92=) single nucleotide variant not provided [RCV000895455] Chr18:46091715 [GRCh38]
Chr18:43671681 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1430-183_1430-182del deletion not provided [RCV000843498] Chr18:46084836..46084837 [GRCh38]
Chr18:43664802..43664803 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1252G>A (p.Gly418Arg) single nucleotide variant Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A [RCV003313764] Chr18:46086419 [GRCh38]
Chr18:43666385 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic
NM_004046.6(ATP5F1A):c.437T>A (p.Leu146Gln) single nucleotide variant not provided [RCV000996682] Chr18:46089869 [GRCh38]
Chr18:43669835 [GRCh37]
Chr18:18q21.1		 uncertain significance
NC_000018.9:g.(?_43664248)_(43678197_?)del deletion not provided [RCV003105389] Chr18:43664248..43678197 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.563_564inv (p.Pro188Leu) inversion not provided [RCV003230046] Chr18:46089652..46089653 [GRCh38]
Chr18:43669618..43669619 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.800-249C>T single nucleotide variant not provided [RCV001695363] Chr18:46087741 [GRCh38]
Chr18:43667707 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.483+35T>A single nucleotide variant not provided [RCV001560652] Chr18:46089788 [GRCh38]
Chr18:43669754 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1177-134G>A single nucleotide variant not provided [RCV001576724] Chr18:46086628 [GRCh38]
Chr18:43666594 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1430-232del deletion not provided [RCV001639203] Chr18:46084886 [GRCh38]
Chr18:43664852 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.*286G>T single nucleotide variant not provided [RCV001659257] Chr18:46083996 [GRCh38]
Chr18:43663962 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1176+81A>G single nucleotide variant not provided [RCV001556440] Chr18:46086927 [GRCh38]
Chr18:43666893 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.310-88C>A single nucleotide variant not provided [RCV001649665] Chr18:46090084 [GRCh38]
Chr18:43670050 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.60+39G>A single nucleotide variant not provided [RCV001546076] Chr18:46098133 [GRCh38]
Chr18:43678099 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1284+49_1285-58del deletion not provided [RCV001650248] Chr18:46086315..46086338 [GRCh38]
Chr18:43666281..43666304 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.139+188C>T single nucleotide variant not provided [RCV001621883] Chr18:46094865 [GRCh38]
Chr18:43674831 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.417C>T (p.Asp139=) single nucleotide variant ATP5F1A-related condition [RCV003943057]|not provided [RCV000953382] Chr18:46089889 [GRCh38]
Chr18:43669855 [GRCh37]
Chr18:18q21.1		 benign|likely benign
GRCh37/hg19 18q12.3-21.1(chr18:39800804-44365152)x1 copy number loss not provided [RCV001006976] Chr18:39800804..44365152 [GRCh37]
Chr18:18q12.3-21.1		 pathogenic
GRCh37/hg19 18q12.3-21.1(chr18:41630585-45107905)x1 copy number loss not provided [RCV001006977] Chr18:41630585..45107905 [GRCh37]
Chr18:18q12.3-21.1		 pathogenic
NM_004046.6(ATP5F1A):c.1429+165dup duplication not provided [RCV001621858] Chr18:46085933..46085934 [GRCh38]
Chr18:43665899..43665900 [GRCh37]
Chr18:18q21.1		 benign
NM_001001937.2(ATP5F1A):c.-48-91_-48-89del deletion not provided [RCV001549667] Chr18:46098368..46098370 [GRCh38]
Chr18:43678334..43678336 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.310-97_310-90dup duplication not provided [RCV001550446] Chr18:46090085..46090086 [GRCh38]
Chr18:43670051..43670052 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001001937.2(ATP5F1A):c.-48-89del deletion not provided [RCV001656414] Chr18:46098368 [GRCh38]
Chr18:43678334 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1176+113A>G single nucleotide variant not provided [RCV001621033] Chr18:46086895 [GRCh38]
Chr18:43666861 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.310-89A>C single nucleotide variant not provided [RCV001638737] Chr18:46090085 [GRCh38]
Chr18:43670051 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.139+215T>C single nucleotide variant not provided [RCV001674887] Chr18:46094838 [GRCh38]
Chr18:43674804 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.140-249G>T single nucleotide variant not provided [RCV001654591] Chr18:46092100 [GRCh38]
Chr18:43672066 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1176+75A>G single nucleotide variant not provided [RCV001538950] Chr18:46086933 [GRCh38]
Chr18:43666899 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.*286del deletion not provided [RCV001637905] Chr18:46083996 [GRCh38]
Chr18:43663962 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1429+201G>A single nucleotide variant not provided [RCV001659209] Chr18:46085912 [GRCh38]
Chr18:43665878 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.*75G>T single nucleotide variant not provided [RCV001564627] Chr18:46084207 [GRCh38]
Chr18:43664173 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.60+251T>C single nucleotide variant not provided [RCV001651456] Chr18:46097921 [GRCh38]
Chr18:43677887 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.*133A>G single nucleotide variant not provided [RCV001672199] Chr18:46084149 [GRCh38]
Chr18:43664115 [GRCh37]
Chr18:18q21.1		 benign
NC_000018.10:g.46104364G>C single nucleotide variant not provided [RCV001609442] Chr18:46104364 [GRCh38]
Chr18:43684330 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1177-147T>C single nucleotide variant not provided [RCV001714350] Chr18:46086641 [GRCh38]
Chr18:43666607 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.310-97dup duplication not provided [RCV001611631] Chr18:46090085..46090086 [GRCh38]
Chr18:43670051..43670052 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.60+390A>C single nucleotide variant not provided [RCV001540449] Chr18:46097782 [GRCh38]
Chr18:43677748 [GRCh37]
Chr18:18q21.1		 likely benign
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
NM_004046.6(ATP5F1A):c.60+345C>T single nucleotide variant not provided [RCV001641628] Chr18:46097827 [GRCh38]
Chr18:43677793 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_004046.6(ATP5F1A):c.800-114C>T single nucleotide variant not provided [RCV001565007] Chr18:46087606 [GRCh38]
Chr18:43667572 [GRCh37]
Chr18:18q21.1		 likely benign
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
NM_004046.6(ATP5F1A):c.295T>C (p.Ser99Pro) single nucleotide variant Combined oxidative phosphorylation deficiency 22 [RCV001337036]|not provided [RCV002547362] Chr18:46091696 [GRCh38]
Chr18:43671662 [GRCh37]
Chr18:18q21.1		 uncertain significance
NC_000018.9:g.(?_42281312)_(45423127_?)del deletion Microcephaly, epilepsy, and diabetes syndrome [RCV001300957] Chr18:42281312..45423127 [GRCh37]
Chr18:18q12.3-21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1429+97G>A single nucleotide variant not provided [RCV001538580] Chr18:46086016 [GRCh38]
Chr18:43665982 [GRCh37]
Chr18:18q21.1		 benign
NC_000018.10:g.46104334C>A single nucleotide variant not provided [RCV001679615] Chr18:46104334 [GRCh38]
Chr18:43684300 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1177-243_1177-241del deletion not provided [RCV001651664] Chr18:46086735..46086737 [GRCh38]
Chr18:43666701..43666703 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.651-302G>A single nucleotide variant not provided [RCV001540472] Chr18:46088559 [GRCh38]
Chr18:43668525 [GRCh37]
Chr18:18q21.1		 benign
NM_001001937.2(ATP5F1A):c.-48-86T>G single nucleotide variant not provided [RCV001650403] Chr18:46098365 [GRCh38]
Chr18:43678331 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.60+114C>T single nucleotide variant not provided [RCV001716179] Chr18:46098058 [GRCh38]
Chr18:43678024 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.651-98C>A single nucleotide variant not provided [RCV001716180] Chr18:46088355 [GRCh38]
Chr18:43668321 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1177-23G>A single nucleotide variant not provided [RCV001592372] Chr18:46086517 [GRCh38]
Chr18:43666483 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.7T>C (p.Ser3Pro) single nucleotide variant not provided [RCV002237676] Chr18:46098225 [GRCh38]
Chr18:43678191 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.992C>T (p.Pro331Leu) single nucleotide variant ATP5F1A-related condition [RCV002253066] Chr18:46087192 [GRCh38]
Chr18:43667158 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.308A>T (p.Lys103Met) single nucleotide variant not provided [RCV001755406] Chr18:46091683 [GRCh38]
Chr18:43671649 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1177-32C>T single nucleotide variant not provided [RCV001768248] Chr18:46086526 [GRCh38]
Chr18:43666492 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1578C>T (p.Ile526=) single nucleotide variant not provided [RCV002237671] Chr18:46084506 [GRCh38]
Chr18:43664472 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.739G>A (p.Val247Ile) single nucleotide variant not provided [RCV002237672] Chr18:46088169 [GRCh38]
Chr18:43668135 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1171G>A (p.Gly391Arg) single nucleotide variant not provided [RCV001813878] Chr18:46087013 [GRCh38]
Chr18:43666979 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1459G>A (p.Val487Ile) single nucleotide variant Inborn genetic diseases [RCV003365713]|not provided [RCV002239954] Chr18:46084625 [GRCh38]
Chr18:43664591 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1214G>A (p.Arg405His) single nucleotide variant not provided [RCV002239955] Chr18:46086457 [GRCh38]
Chr18:43666423 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.416A>G (p.Asp139Gly) single nucleotide variant Inborn genetic diseases [RCV003355547]|not provided [RCV001779694] Chr18:46089890 [GRCh38]
Chr18:43669856 [GRCh37]
Chr18:18q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe) single nucleotide variant Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A [RCV003226488]|not provided [RCV001777044] Chr18:46087147 [GRCh38]
Chr18:43667113 [GRCh37]
Chr18:18q21.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004046.6(ATP5F1A):c.1162A>G (p.Ile388Val) single nucleotide variant not provided [RCV001776379] Chr18:46087022 [GRCh38]
Chr18:43666988 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NC_000018.9:g.(?_42281312)_(45423127_?)dup duplication Microcephaly, epilepsy, and diabetes syndrome [RCV001923035]|Vici syndrome [RCV001923036] Chr18:42281312..45423127 [GRCh37]
Chr18:18q12.3-21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1580+19G>C single nucleotide variant not provided [RCV002237670] Chr18:46084485 [GRCh38]
Chr18:43664451 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.330A>G (p.Glu110=) single nucleotide variant not provided [RCV002237674] Chr18:46089976 [GRCh38]
Chr18:43669942 [GRCh37]
Chr18:18q21.1		 likely benign
NC_000018.9:g.(?_42281312)_(44236996_?)del deletion not provided [RCV003119618] Chr18:42281312..44236996 [GRCh37]
Chr18:18q12.3-21.1		 pathogenic
NM_004046.6(ATP5F1A):c.23C>T (p.Ala8Val) single nucleotide variant not provided [RCV002237675] Chr18:46098209 [GRCh38]
Chr18:43678175 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.473T>C (p.Ile158Thr) single nucleotide variant not provided [RCV002237673] Chr18:46089833 [GRCh38]
Chr18:43669799 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.604A>G (p.Ile202Val) single nucleotide variant not provided [RCV002276055] Chr18:46089612 [GRCh38]
Chr18:43669578 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1512T>G (p.Ile504Met) single nucleotide variant not provided [RCV002305980] Chr18:46084572 [GRCh38]
Chr18:43664538 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1577T>A (p.Ile526Asn) single nucleotide variant not provided [RCV002306188] Chr18:46084507 [GRCh38]
Chr18:43664473 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1285-13T>C single nucleotide variant not provided [RCV002730249] Chr18:46086270 [GRCh38]
Chr18:43666236 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.44_46del (p.Pro15del) deletion not provided [RCV002617358] Chr18:46098186..46098188 [GRCh38]
Chr18:43678152..43678154 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1206A>T (p.Lys402Asn) single nucleotide variant not provided [RCV002991772] Chr18:46086465 [GRCh38]
Chr18:43666431 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.16G>T (p.Val6Phe) single nucleotide variant not provided [RCV002618519] Chr18:46098216 [GRCh38]
Chr18:43678182 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1635A>G (p.Thr545=) single nucleotide variant not provided [RCV002776413] Chr18:46084309 [GRCh38]
Chr18:43664275 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.691C>T (p.Arg231Cys) single nucleotide variant not provided [RCV002774768] Chr18:46088217 [GRCh38]
Chr18:43668183 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.146C>T (p.Ala49Val) single nucleotide variant not provided [RCV002681367] Chr18:46091845 [GRCh38]
Chr18:43671811 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.696C>T (p.Phe232=) single nucleotide variant not provided [RCV002571054] Chr18:46088212 [GRCh38]
Chr18:43668178 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.191C>G (p.Thr64Ser) single nucleotide variant not provided [RCV002591043] Chr18:46091800 [GRCh38]
Chr18:43671766 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.520C>G (p.Leu174Val) single nucleotide variant not provided [RCV002913952] Chr18:46089696 [GRCh38]
Chr18:43669662 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.890G>C (p.Gly297Ala) single nucleotide variant not provided [RCV003005872] Chr18:46087402 [GRCh38]
Chr18:43667368 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.692G>A (p.Arg231His) single nucleotide variant not provided [RCV002642701] Chr18:46088216 [GRCh38]
Chr18:43668182 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.789T>C (p.Leu263=) single nucleotide variant not provided [RCV003023513] Chr18:46088119 [GRCh38]
Chr18:43668085 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.936C>T (p.Asp312=) single nucleotide variant not provided [RCV002594675] Chr18:46087356 [GRCh38]
Chr18:43667322 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.60+17G>A single nucleotide variant not provided [RCV002851193] Chr18:46098155 [GRCh38]
Chr18:43678121 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.745A>G (p.Ile249Val) single nucleotide variant Inborn genetic diseases [RCV003365742]|not provided [RCV002577304] Chr18:46088163 [GRCh38]
Chr18:43668129 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.249C>G (p.Arg83=) single nucleotide variant not provided [RCV002632899] Chr18:46091742 [GRCh38]
Chr18:43671708 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.38C>G (p.Ala13Gly) single nucleotide variant not provided [RCV002922979] Chr18:46098194 [GRCh38]
Chr18:43678160 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1541A>G (p.His514Arg) single nucleotide variant not provided [RCV002834101] Chr18:46084543 [GRCh38]
Chr18:43664509 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.112G>A (p.Ala38Thr) single nucleotide variant not provided [RCV002579438] Chr18:46095080 [GRCh38]
Chr18:43675046 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1347C>T (p.Phe449=) single nucleotide variant not provided [RCV003088112] Chr18:46086195 [GRCh38]
Chr18:43666161 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.641G>A (p.Arg214Gln) single nucleotide variant not provided [RCV002810609] Chr18:46089575 [GRCh38]
Chr18:43669541 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.800-11T>C single nucleotide variant not provided [RCV002601360] Chr18:46087503 [GRCh38]
Chr18:43667469 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1580+9G>A single nucleotide variant not provided [RCV002966408] Chr18:46084495 [GRCh38]
Chr18:43664461 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.519T>G (p.Gly173=) single nucleotide variant not provided [RCV002578225] Chr18:46089697 [GRCh38]
Chr18:43669663 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.502A>G (p.Thr168Ala) single nucleotide variant not provided [RCV002680934] Chr18:46089714 [GRCh38]
Chr18:43669680 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.249C>T (p.Arg83=) single nucleotide variant not provided [RCV002587774] Chr18:46091742 [GRCh38]
Chr18:43671708 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.172C>T (p.Arg58Cys) single nucleotide variant Inborn genetic diseases [RCV003375628]|not provided [RCV002585989] Chr18:46091819 [GRCh38]
Chr18:43671785 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1210A>G (p.Ile404Val) single nucleotide variant not provided [RCV002609998] Chr18:46086461 [GRCh38]
Chr18:43666427 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.309+4A>G single nucleotide variant not provided [RCV002604182] Chr18:46091678 [GRCh38]
Chr18:43671644 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.504G>A (p.Thr168=) single nucleotide variant not provided [RCV002588456] Chr18:46089712 [GRCh38]
Chr18:43669678 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1069G>A (p.Asp357Asn) single nucleotide variant not provided [RCV002610917] Chr18:46087115 [GRCh38]
Chr18:43667081 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.140-6C>T single nucleotide variant not provided [RCV002654203] Chr18:46091857 [GRCh38]
Chr18:43671823 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.76T>G (p.Leu26Val) single nucleotide variant not provided [RCV002585120] Chr18:46095116 [GRCh38]
Chr18:43675082 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.484-13dup duplication not provided [RCV002583363] Chr18:46089744..46089745 [GRCh38]
Chr18:43669710..43669711 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.846T>C (p.Ala282=) single nucleotide variant not provided [RCV002586253] Chr18:46087446 [GRCh38]
Chr18:43667412 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.446G>A (p.Arg149His) single nucleotide variant Inborn genetic diseases [RCV003204193] Chr18:46089860 [GRCh38]
Chr18:43669826 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1285G>T (p.Val429Leu) single nucleotide variant Inborn genetic diseases [RCV003200884] Chr18:46086257 [GRCh38]
Chr18:43666223 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.503C>T (p.Thr168Met) single nucleotide variant not provided [RCV003159381] Chr18:46089713 [GRCh38]
Chr18:43669679 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.505C>T (p.Arg169Cys) single nucleotide variant Inborn genetic diseases [RCV003184488] Chr18:46089711 [GRCh38]
Chr18:43669677 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1028A>G (p.Tyr343Cys) single nucleotide variant not provided [RCV003319058] Chr18:46087156 [GRCh38]
Chr18:43667122 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.326T>C (p.Leu109Ser) single nucleotide variant Mitochondrial disease [RCV003329210] Chr18:46089980 [GRCh38]
Chr18:43669946 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1290A>G (p.Ala430=) single nucleotide variant not provided [RCV003571028] Chr18:46086252 [GRCh38]
Chr18:43666218 [GRCh37]
Chr18:18q21.1		 likely benign
GRCh37/hg19 18q21.1(chr18:43650248-43748424)x1 copy number loss not provided [RCV003483336] Chr18:43650248..43748424 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1657G>A (p.Ala553Thr) single nucleotide variant not provided [RCV003441565] Chr18:46084287 [GRCh38]
Chr18:43664253 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.200A>T (p.Asp67Val) single nucleotide variant not provided [RCV003443259] Chr18:46091791 [GRCh38]
Chr18:43671757 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.389T>C (p.Ile130Thr) single nucleotide variant not provided [RCV003490500] Chr18:46089917 [GRCh38]
Chr18:43669883 [GRCh37]
Chr18:18q21.1		 conflicting interpretations of pathogenicity
NM_004046.6(ATP5F1A):c.1580+16_1580+18del microsatellite not provided [RCV003830880] Chr18:46084486..46084488 [GRCh38]
Chr18:43664452..43664454 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.815C>G (p.Thr272Ser) single nucleotide variant not provided [RCV003578768] Chr18:46087477 [GRCh38]
Chr18:43667443 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.140-5C>T single nucleotide variant not provided [RCV003574185] Chr18:46091856 [GRCh38]
Chr18:43671822 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1571G>A (p.Gly524Asp) single nucleotide variant not provided [RCV003878336] Chr18:46084513 [GRCh38]
Chr18:43664479 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1177-20C>A single nucleotide variant not provided [RCV003572681] Chr18:46086514 [GRCh38]
Chr18:43666480 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1285-18G>C single nucleotide variant not provided [RCV003697625] Chr18:46086275 [GRCh38]
Chr18:43666241 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1205A>G (p.Lys402Arg) single nucleotide variant not provided [RCV003849813] Chr18:46086466 [GRCh38]
Chr18:43666432 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1041G>T (p.Arg347=) single nucleotide variant not provided [RCV003557547] Chr18:46087143 [GRCh38]
Chr18:43667109 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1360G>A (p.Asp454Asn) single nucleotide variant not provided [RCV003850135] Chr18:46086182 [GRCh38]
Chr18:43666148 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.406G>A (p.Ala136Thr) single nucleotide variant not provided [RCV003697544] Chr18:46089900 [GRCh38]
Chr18:43669866 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1546G>A (p.Val516Ile) single nucleotide variant not provided [RCV003833368] Chr18:46084538 [GRCh38]
Chr18:43664504 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.693T>C (p.Arg231=) single nucleotide variant not provided [RCV003701491] Chr18:46088215 [GRCh38]
Chr18:43668181 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1227C>T (p.Asn409=) single nucleotide variant not provided [RCV003681374] Chr18:46086444 [GRCh38]
Chr18:43666410 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.10G>A (p.Val4Met) single nucleotide variant not provided [RCV003674754] Chr18:46098222 [GRCh38]
Chr18:43678188 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1360G>C (p.Asp454His) single nucleotide variant not provided [RCV003821595] Chr18:46086182 [GRCh38]
Chr18:43666148 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.56G>A (p.Gly19Glu) single nucleotide variant not provided [RCV003822208] Chr18:46098176 [GRCh38]
Chr18:43678142 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1170C>T (p.Asp390=) single nucleotide variant not provided [RCV003867069] Chr18:46087014 [GRCh38]
Chr18:43666980 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.792A>G (p.Thr264=) single nucleotide variant not provided [RCV003680725] Chr18:46088116 [GRCh38]
Chr18:43668082 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1140C>T (p.Tyr380=) single nucleotide variant not provided [RCV003869387] Chr18:46087044 [GRCh38]
Chr18:43667010 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.531C>T (p.Pro177=) single nucleotide variant not provided [RCV003735806] Chr18:46089685 [GRCh38]
Chr18:43669651 [GRCh37]
Chr18:18q21.1		 likely benign
GRCh37/hg19 18q12.2-21.1(chr18:36823620-44030870)x1 copy number loss not specified [RCV003987291] Chr18:36823620..44030870 [GRCh37]
Chr18:18q12.2-21.1		 likely pathogenic
GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1 copy number loss not specified [RCV003987274] Chr18:33793283..46823898 [GRCh37]
Chr18:18q12.2-21.1		 pathogenic
NM_004046.6(ATP5F1A):c.894G>C (p.Glu298Asp) single nucleotide variant not provided [RCV003566709] Chr18:46087398 [GRCh38]
Chr18:43667364 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_004046.6(ATP5F1A):c.1401A>G (p.Leu467=) single nucleotide variant not provided [RCV003845669] Chr18:46086141 [GRCh38]
Chr18:43666107 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1580+15G>C single nucleotide variant not provided [RCV003712082] Chr18:46084489 [GRCh38]
Chr18:43664455 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.310-4G>T single nucleotide variant not provided [RCV003709384] Chr18:46090000 [GRCh38]
Chr18:43669966 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1077T>C (p.Phe359=) single nucleotide variant not provided [RCV003735849] Chr18:46087107 [GRCh38]
Chr18:43667073 [GRCh37]
Chr18:18q21.1		 benign
NM_004046.6(ATP5F1A):c.1359C>T (p.Leu453=) single nucleotide variant not provided [RCV003731203] Chr18:46086183 [GRCh38]
Chr18:43666149 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.15C>T (p.Arg5=) single nucleotide variant not provided [RCV003729199] Chr18:46098217 [GRCh38]
Chr18:43678183 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1149A>G (p.Thr383=) single nucleotide variant ATP5F1A-related condition [RCV003954484] Chr18:46087035 [GRCh38]
Chr18:43667001 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.1233T>C (p.Gly411=) single nucleotide variant ATP5F1A-related condition [RCV003904218] Chr18:46086438 [GRCh38]
Chr18:43666404 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.915A>G (p.Lys305=) single nucleotide variant ATP5F1A-related condition [RCV003954855] Chr18:46087377 [GRCh38]
Chr18:43667343 [GRCh37]
Chr18:18q21.1		 likely benign
NM_004046.6(ATP5F1A):c.39C>T (p.Ala13=) single nucleotide variant ATP5F1A-related condition [RCV003947117] Chr18:46098193 [GRCh38]
Chr18:43678159 [GRCh37]
Chr18:18q21.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2787
Count of miRNA genes:975
Interacting mature miRNAs:1156
Transcripts:ENST00000282050, ENST00000398752, ENST00000585650, ENST00000586523, ENST00000586592, ENST00000587902, ENST00000588390, ENST00000589252, ENST00000589611, ENST00000589869, ENST00000590156, ENST00000590324, ENST00000590406, ENST00000590448, ENST00000590665, ENST00000591267, ENST00000591981, ENST00000592364, ENST00000592989, ENST00000593152
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.

Markers in Region
STS-AA020987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371672,040,358 - 72,040,602UniSTSGRCh37
Build 361670,597,859 - 70,598,103RGDNCBI36
Celera1656,354,468 - 56,354,712RGD
Cytogenetic Map18q21UniSTS
Cytogenetic Map16q22.2UniSTS
HuRef1657,807,170 - 57,807,414UniSTS
GeneMap99-GB4 RH Map16436.06UniSTS
D16S2555E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371672,040,174 - 72,040,296UniSTSGRCh37
Build 361670,597,675 - 70,597,797RGDNCBI36
Celera1656,354,284 - 56,354,406RGD
Cytogenetic Map18q21UniSTS
Cytogenetic Map16q22.2UniSTS
HuRef1657,806,986 - 57,807,108UniSTS
RH11585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371843,664,251 - 43,664,510UniSTSGRCh37
Build 361841,918,249 - 41,918,508RGDNCBI36
Celera1840,472,439 - 40,472,698RGD
Cytogenetic Map18q21UniSTS
HuRef1840,521,867 - 40,522,126UniSTS
GeneMap99-GB4 RH Map18335.99UniSTS
NCBI RH Map18560.4UniSTS
PMC20944P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371843,670,003 - 43,670,299UniSTSGRCh37
Build 361841,924,001 - 41,924,297RGDNCBI36
Celera1840,478,191 - 40,478,487RGD
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map18q21UniSTS
HuRef1840,527,618 - 40,527,915UniSTS
L18441  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16q24UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS
RH36905  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map3q12.2-q12.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q12-q13.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map10q25-q26UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map16q22.1UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
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Cytogenetic Map15q15.1UniSTS
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Cytogenetic Map1q32.3UniSTS
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Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1 9
Medium 2432 2940 1722 621 1917 463 4354 2180 3705 417 1439 1608 171 1204 2788 4
Low 44 1 1 31 1 13 5 1 1
Below cutoff 1 1 11 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU120644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU143001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW205533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW207528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD244623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK002707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D14710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X59066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X65460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X69066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000282050   ⟹   ENSP00000282050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,084,144 - 46,104,233 (-)Ensembl
RefSeq Acc Id: ENST00000398752   ⟹   ENSP00000381736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,080,248 - 46,098,296 (-)Ensembl
RefSeq Acc Id: ENST00000585650   ⟹   ENSP00000467983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,089,959 - 46,099,352 (-)Ensembl
RefSeq Acc Id: ENST00000586523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,084,150 - 46,088,696 (-)Ensembl
RefSeq Acc Id: ENST00000586592   ⟹   ENSP00000466275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,084,150 - 46,098,315 (-)Ensembl
RefSeq Acc Id: ENST00000587902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,084,427 - 46,086,584 (-)Ensembl
RefSeq Acc Id: ENST00000588390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,094,700 - 46,098,295 (-)Ensembl
RefSeq Acc Id: ENST00000589252   ⟹   ENSP00000466975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,087,427 - 46,098,295 (-)Ensembl
RefSeq Acc Id: ENST00000589611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,089,429 - 46,092,198 (-)Ensembl
RefSeq Acc Id: ENST00000589869   ⟹   ENSP00000465497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,088,136 - 46,104,334 (-)Ensembl
RefSeq Acc Id: ENST00000590156   ⟹   ENSP00000466309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,084,150 - 46,098,295 (-)Ensembl
RefSeq Acc Id: ENST00000590324   ⟹   ENSP00000465259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,089,632 - 46,104,233 (-)Ensembl
RefSeq Acc Id: ENST00000590406   ⟹   ENSP00000468458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,089,599 - 46,104,227 (-)Ensembl
RefSeq Acc Id: ENST00000590448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,089,759 - 46,104,253 (-)Ensembl
RefSeq Acc Id: ENST00000590665   ⟹   ENSP00000467037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,084,150 - 46,098,296 (-)Ensembl
RefSeq Acc Id: ENST00000591267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,093,180 - 46,098,296 (-)Ensembl
RefSeq Acc Id: ENST00000591981   ⟹   ENSP00000465805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,089,822 - 46,098,296 (-)Ensembl
RefSeq Acc Id: ENST00000592364   ⟹   ENSP00000468618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,086,127 - 46,098,285 (-)Ensembl
RefSeq Acc Id: ENST00000592989   ⟹   ENSP00000467830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,089,822 - 46,104,273 (-)Ensembl
RefSeq Acc Id: ENST00000593152   ⟹   ENSP00000465477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1846,084,144 - 46,098,353 (-)Ensembl
RefSeq Acc Id: NM_001001935   ⟹   NP_001001935
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381846,080,248 - 46,098,296 (-)NCBI
GRCh371843,664,110 - 43,684,199 (-)NCBI
HuRef1840,521,726 - 40,541,788 (-)NCBI
CHM1_11843,591,321 - 43,605,458 (-)NCBI
T2T-CHM13v2.01846,271,209 - 46,289,257 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001001937   ⟹   NP_001001937
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381846,080,248 - 46,104,227 (-)NCBI
GRCh371843,664,110 - 43,684,199 (-)ENTREZGENE
Build 361841,918,108 - 41,938,197 (-)NCBI Archive
HuRef1840,521,726 - 40,541,788 (-)ENTREZGENE
CHM1_11843,591,321 - 43,611,335 (-)NCBI
T2T-CHM13v2.01846,271,209 - 46,295,188 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001257334   ⟹   NP_001244263
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381846,080,248 - 46,098,296 (-)NCBI
GRCh371843,664,110 - 43,684,199 (-)NCBI
HuRef1840,521,726 - 40,541,788 (-)NCBI
CHM1_11843,591,321 - 43,605,458 (-)NCBI
T2T-CHM13v2.01846,271,209 - 46,289,257 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001257335   ⟹   NP_001244264
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381846,080,248 - 46,098,296 (-)NCBI
GRCh371843,664,110 - 43,684,199 (-)NCBI
HuRef1840,521,726 - 40,541,788 (-)NCBI
CHM1_11843,591,321 - 43,605,458 (-)NCBI
T2T-CHM13v2.01846,271,209 - 46,289,257 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004046   ⟹   NP_004037
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381846,080,248 - 46,098,296 (-)NCBI
GRCh371843,664,110 - 43,684,199 (-)ENTREZGENE
Build 361841,918,108 - 41,932,285 (-)NCBI Archive
HuRef1840,521,726 - 40,541,788 (-)ENTREZGENE
CHM1_11843,591,321 - 43,605,458 (-)NCBI
T2T-CHM13v2.01846,271,209 - 46,289,257 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001001935 (Get FASTA)   NCBI Sequence Viewer  
  NP_001001937 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244263 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244264 (Get FASTA)   NCBI Sequence Viewer  
  NP_004037 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH03119 (Get FASTA)   NCBI Sequence Viewer  
  AAH07299 (Get FASTA)   NCBI Sequence Viewer  
  AAH08028 (Get FASTA)   NCBI Sequence Viewer  
  AAH11384 (Get FASTA)   NCBI Sequence Viewer  
  AAH16046 (Get FASTA)   NCBI Sequence Viewer  
  AAH19310 (Get FASTA)   NCBI Sequence Viewer  
  AAH39135 (Get FASTA)   NCBI Sequence Viewer  
  AAH64562 (Get FASTA)   NCBI Sequence Viewer  
  AAH67385 (Get FASTA)   NCBI Sequence Viewer  
  AAP35873 (Get FASTA)   NCBI Sequence Viewer  
  ACI46001 (Get FASTA)   NCBI Sequence Viewer  
  BAA03531 (Get FASTA)   NCBI Sequence Viewer  
  BAA05672 (Get FASTA)   NCBI Sequence Viewer  
  BAF82146 (Get FASTA)   NCBI Sequence Viewer  
  BAG52604 (Get FASTA)   NCBI Sequence Viewer  
  BAG57924 (Get FASTA)   NCBI Sequence Viewer  
  BAG63618 (Get FASTA)   NCBI Sequence Viewer  
  CAA41789 (Get FASTA)   NCBI Sequence Viewer  
  CAA46452 (Get FASTA)   NCBI Sequence Viewer  
  CAA48804 (Get FASTA)   NCBI Sequence Viewer  
  EAX01471 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000282050
  ENSP00000282050.2
  ENSP00000381736
  ENSP00000381736.5
  ENSP00000465259.1
  ENSP00000465477
  ENSP00000465477.2
  ENSP00000465497.1
  ENSP00000465805.2
  ENSP00000466275.3
  ENSP00000466309.1
  ENSP00000466975.1
  ENSP00000467037
  ENSP00000467037.1
  ENSP00000467830.1
  ENSP00000467983.1
  ENSP00000468458.1
  ENSP00000468618.1
GenBank Protein P25705 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001001937   ⟸   NM_001001937
- Peptide Label: isoform a precursor
- UniProtKB: Q96IR6 (UniProtKB/Swiss-Prot),   Q96HW2 (UniProtKB/Swiss-Prot),   Q96FB4 (UniProtKB/Swiss-Prot),   Q8IXV2 (UniProtKB/Swiss-Prot),   Q53XX6 (UniProtKB/Swiss-Prot),   K7ENP3 (UniProtKB/Swiss-Prot),   B4DY56 (UniProtKB/Swiss-Prot),   A8K092 (UniProtKB/Swiss-Prot),   Q9BTV8 (UniProtKB/Swiss-Prot),   P25705 (UniProtKB/Swiss-Prot),   V9HW26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004037   ⟸   NM_004046
- Peptide Label: isoform a precursor
- UniProtKB: Q96IR6 (UniProtKB/Swiss-Prot),   Q96HW2 (UniProtKB/Swiss-Prot),   Q96FB4 (UniProtKB/Swiss-Prot),   Q8IXV2 (UniProtKB/Swiss-Prot),   Q53XX6 (UniProtKB/Swiss-Prot),   K7ENP3 (UniProtKB/Swiss-Prot),   B4DY56 (UniProtKB/Swiss-Prot),   A8K092 (UniProtKB/Swiss-Prot),   Q9BTV8 (UniProtKB/Swiss-Prot),   P25705 (UniProtKB/Swiss-Prot),   V9HW26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244263   ⟸   NM_001257334
- Peptide Label: isoform b precursor
- UniProtKB: P25705 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001001935   ⟸   NM_001001935
- Peptide Label: isoform c
- UniProtKB: P25705 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244264   ⟸   NM_001257335
- Peptide Label: isoform c
- UniProtKB: P25705 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000381736   ⟸   ENST00000398752
RefSeq Acc Id: ENSP00000467983   ⟸   ENST00000585650
RefSeq Acc Id: ENSP00000282050   ⟸   ENST00000282050
RefSeq Acc Id: ENSP00000466275   ⟸   ENST00000586592
RefSeq Acc Id: ENSP00000466975   ⟸   ENST00000589252
RefSeq Acc Id: ENSP00000465497   ⟸   ENST00000589869
RefSeq Acc Id: ENSP00000465259   ⟸   ENST00000590324
RefSeq Acc Id: ENSP00000466309   ⟸   ENST00000590156
RefSeq Acc Id: ENSP00000467037   ⟸   ENST00000590665
RefSeq Acc Id: ENSP00000468458   ⟸   ENST00000590406
RefSeq Acc Id: ENSP00000465805   ⟸   ENST00000591981
RefSeq Acc Id: ENSP00000467830   ⟸   ENST00000592989
RefSeq Acc Id: ENSP00000468618   ⟸   ENST00000592364
RefSeq Acc Id: ENSP00000465477   ⟸   ENST00000593152
Protein Domains
ATP synthase alpha subunit C-terminal   ATPase F1/V1/A1 complex alpha/beta subunit   ATPase F1/V1/A1 complex alpha/beta subunit N-

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P25705-F1-model_v2 AlphaFold P25705 1-553 view protein structure

Promoters
RGD ID:6794772
Promoter ID:HG_KWN:27951
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000258930
Position:
Human AssemblyChrPosition (strand)Source
Build 361841,920,154 - 41,920,654 (-)MPROMDB
RGD ID:6794774
Promoter ID:HG_KWN:27952
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:OTTHUMT00000255884,   OTTHUMT00000258931,   UC002LBS.1,   UC010DNL.1,   UC010DNM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361841,932,139 - 41,932,639 (-)MPROMDB
RGD ID:6794773
Promoter ID:HG_KWN:27953
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:NM_001001937,   OTTHUMT00000258926,   OTTHUMT00000258927,   OTTHUMT00000258928
Position:
Human AssemblyChrPosition (strand)Source
Build 361841,938,096 - 41,938,596 (-)MPROMDB
RGD ID:7237249
Promoter ID:EPDNEW_H24370
Type:initiation region
Name:ATP5A1_1
Description:ATP synthase, H+ transporting, mitochondrial F1 complex, alphasubunit 1, cardiac muscle
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381846,098,285 - 46,098,345EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:823 AgrOrtholog
COSMIC ATP5F1A COSMIC
Ensembl Genes ENSG00000152234 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000282050 ENTREZGENE
  ENST00000282050.6 UniProtKB/Swiss-Prot
  ENST00000398752 ENTREZGENE
  ENST00000398752.11 UniProtKB/Swiss-Prot
  ENST00000585650.1 UniProtKB/TrEMBL
  ENST00000586592.5 UniProtKB/TrEMBL
  ENST00000589252.5 UniProtKB/TrEMBL
  ENST00000589869.5 UniProtKB/TrEMBL
  ENST00000590156.5 UniProtKB/TrEMBL
  ENST00000590324.5 UniProtKB/TrEMBL
  ENST00000590406.5 UniProtKB/TrEMBL
  ENST00000590665 ENTREZGENE
  ENST00000590665.5 UniProtKB/Swiss-Prot
  ENST00000591981.5 UniProtKB/TrEMBL
  ENST00000592364.5 UniProtKB/TrEMBL
  ENST00000592989.1 UniProtKB/TrEMBL
  ENST00000593152 ENTREZGENE
  ENST00000593152.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.150.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.30.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.12240 UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000152234 GTEx
HGNC ID HGNC:823 ENTREZGENE
Human Proteome Map ATP5F1A Human Proteome Map
InterPro ATP_synth_asu-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP_synth_asu_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP_synth_asu_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP_synth_F1_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP_synth_F1_asu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_a/bsu_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_F1/V1/A1_a/bsu_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_F1/V1/A1_a/bsu_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_F1/V1/A1_a/bsu_nucl-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:498 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 498 ENTREZGENE
OMIM 164360 OMIM
PANTHER ATP SYNTHASE SUBUNIT ALPHA, MITOCHONDRIAL UniProtKB/Swiss-Prot
  ATP SYNTHASE SUBUNIT ALPHA, MITOCHONDRIAL UniProtKB/Swiss-Prot
  ATP SYNTHASE SUBUNIT ALPHA, MITOCHONDRIAL UniProtKB/TrEMBL
  ATP SYNTHASE SUBUNIT ALPHA, MITOCHONDRIAL UniProtKB/TrEMBL
Pfam ATP-synt_ab UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-synt_ab_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-synt_ab_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25115 PharmGKB
PIRSF F_ATPase_subunit_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ATPASE_ALPHA_BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP C-terminal domain of alpha and beta subunits of F1 ATP synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50615 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MTS3_HUMAN UniProtKB/TrEMBL
  A8K092 ENTREZGENE
  ATPA_HUMAN UniProtKB/Swiss-Prot
  B4DY56 ENTREZGENE
  K7EJP1_HUMAN UniProtKB/TrEMBL
  K7EK77_HUMAN UniProtKB/TrEMBL
  K7EKV9_HUMAN UniProtKB/TrEMBL
  K7EM08_HUMAN UniProtKB/TrEMBL
  K7ENJ4_HUMAN UniProtKB/TrEMBL
  K7ENP3 ENTREZGENE
  K7EQH4_HUMAN UniProtKB/TrEMBL
  K7EQU6_HUMAN UniProtKB/TrEMBL
  K7ERX7_HUMAN UniProtKB/TrEMBL
  K7ESA0_HUMAN UniProtKB/TrEMBL
  P25705 ENTREZGENE
  Q53XX6 ENTREZGENE
  Q8IXV2 ENTREZGENE
  Q96FB4 ENTREZGENE
  Q96HW2 ENTREZGENE
  Q96IR6 ENTREZGENE
  Q9BTV8 ENTREZGENE
  V9HW26 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K092 UniProtKB/Swiss-Prot
  B4DY56 UniProtKB/Swiss-Prot
  K7ENP3 UniProtKB/Swiss-Prot
  Q53XX6 UniProtKB/Swiss-Prot
  Q8IXV2 UniProtKB/Swiss-Prot
  Q96FB4 UniProtKB/Swiss-Prot
  Q96HW2 UniProtKB/Swiss-Prot
  Q96IR6 UniProtKB/Swiss-Prot
  Q9BTV8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-11-28 ATP5F1A  ATP synthase F1 subunit alpha  ATP5A1  ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle  Symbol and/or name change 5135510 APPROVED
2012-04-03 ATP5A1  ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle  ATP5A1  ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle  Symbol and/or name change 5135510 APPROVED