APAF1 (apoptotic peptidase activating factor 1) - Rat Genome Database

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Gene: APAF1 (apoptotic peptidase activating factor 1) Homo sapiens
Analyze
Symbol: APAF1
Name: apoptotic peptidase activating factor 1
RGD ID: 733293
HGNC Page HGNC:576
Description: Predicted to enable cysteine-type endopeptidase activator activity involved in apoptotic process and nucleotide binding activity. Involved in activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c. Located in extracellular exosome. Part of apoptosome. Biomarker of Parkinson's disease; lung non-small cell carcinoma; and pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: APAF-1; apoptotic protease activating factor 1; apoptotic protease-activating factor 1; CED4; DKFZp781B1145
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381298,645,290 - 98,735,433 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1298,645,149 - 98,735,433 (+)EnsemblGRCh38hg38GRCh38
GRCh371299,039,068 - 99,129,211 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361297,563,209 - 97,653,342 (+)NCBINCBI36Build 36hg18NCBI36
Build 341297,541,545 - 97,631,678NCBI
Celera1298,703,974 - 98,794,106 (+)NCBICelera
Cytogenetic Map12q23.1NCBI
HuRef1296,100,029 - 96,190,306 (+)NCBIHuRef
CHM1_11299,004,024 - 99,094,151 (+)NCBICHM1_1
T2T-CHM13v2.01298,618,230 - 98,708,377 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(S)-naringenin  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-D  (ISO)
2,4-dinitrophenol  (EXP)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (EXP,ISO)
3-methyladenine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitrophenol  (ISO)
4-nonylphenol  (ISO)
4-phenylbutyric acid  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-fluorouracil  (EXP)
6-Methoxyflavone  (EXP)
6-O-methylguanine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (EXP,ISO)
acrylamide  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
alloxan  (ISO)
apigenin  (EXP,ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP,ISO)
atrazine  (EXP)
azadirachtin A  (EXP)
bafilomycin A1  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bifenthrin  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bufalin  (EXP)
butachlor  (ISO)
Butylbenzyl phthalate  (ISO)
butyric acid  (ISO)
cadmium dichloride  (EXP)
cadmium sulfide  (EXP)
calcitriol  (EXP)
cannabidiol  (EXP)
capsaicin  (EXP)
carbamazepine  (EXP)
carbon nanotube  (EXP)
carnosic acid  (ISO)
casticin  (EXP)
ceric oxide  (EXP)
chlorpyrifos  (EXP,ISO)
cholesterol  (ISO)
choline  (ISO)
cimetidine  (EXP)
cisplatin  (EXP,ISO)
cobalt dichloride  (ISO)
coenzyme Q10  (ISO)
colistin  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
curcumin  (ISO)
cycloheximide  (EXP)
cyclophosphamide  (EXP)
cyfluthrin  (EXP)
cylindrospermopsin  (EXP)
cypermethrin  (EXP,ISO)
D-glucose  (EXP)
DDE  (ISO)
decabromodiphenyl ether  (EXP)
desferrioxamine B  (EXP)
Di-n-octyl phthalate  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
Didecyldimethylammonium  (EXP)
dieldrin  (ISO)
diepoxybutane  (EXP)
diethyl maleate  (EXP)
diethyl phthalate  (ISO)
diethyldithiocarbamic acid  (EXP)
diethylstilbestrol  (ISO)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dioscin  (EXP)
diosgenin  (EXP)
dioxygen  (ISO)
disulfiram  (EXP)
doxorubicin  (EXP,ISO)
ellagic acid  (EXP)
endosulfan  (EXP,ISO)
epichlorohydrin  (EXP)
erlotinib hydrochloride  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (ISO)
eugenol  (ISO)
flavone  (EXP)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
furosemide  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
gingerol  (EXP)
ginsenoside Rg1  (EXP)
glucaric acid  (ISO)
glucose  (EXP)
glyphosate  (EXP,ISO)
gold atom  (EXP)
gold(0)  (EXP)
hydroxyurea  (ISO)
indole-3-methanol  (ISO)
isoflurane  (ISO)
isoprenaline  (EXP)
ivermectin  (EXP)
kainic acid  (ISO)
ketoconazole  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead nitrate  (ISO)
leptomycin B  (EXP)
linuron  (ISO)
lipopolysaccharide  (ISO)
mangiferin  (ISO)
MeIQx  (EXP)
melatonin  (EXP)
melittin  (ISO)
metformin  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP,ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
mitomycin C  (ISO)
morin  (EXP)
Muraglitazar  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
neomycin  (ISO)
nickel atom  (EXP)
nicotinamide  (ISO)
Nutlin-3  (EXP)
ochratoxin A  (EXP,ISO)
okadaic acid  (EXP)
ouabain  (EXP)
ozone  (ISO)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP,ISO)
paeoniflorin  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
pentobarbital  (ISO)
perfluorononanoic acid  (EXP)
peroxynitrous acid  (ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
PhIP  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pifithrin-?  (EXP)
pirinixic acid  (ISO)
propofol  (ISO)
propylparaben  (EXP)
pyrethrins  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
ruxolitinib  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
safrole  (EXP)
Se-methyl-L-selenocysteine  (EXP)
Se-methylselenocysteine  (EXP)
sinapic acid  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
tanespimycin  (EXP)
taurine  (ISO)
tauroursodeoxycholic acid  (ISO)
tert-butyl hydroperoxide  (EXP,ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP)
vemurafenib  (EXP)
vinclozolin  (ISO)
WIN 55212-2  (EXP)
zearalenone  (ISO)
zebularine  (EXP)
zinc oxide  (ISO)
zoledronic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Elevated caspase and AIF gene expression correlate with progression of sarcopenia during aging in male F344BN rats. Baker DJ and Hepple RT, Exp Gerontol. 2006 Nov;41(11):1149-56. Epub 2006 Oct 6.
2. Bax and Bid act in synergy to bring about T11TS-mediated glioma apoptosis via the release of mitochondrial cytochrome c and subsequent caspase activation. Bhattacharjee M, etal., Int Immunol. 2008 Dec;20(12):1489-505. Epub 2008 Oct 17.
3. Analysis of apoptosome dysregulation in pancreatic cancer and of its role in chemoresistance. Corvaro M, etal., Cancer Biol Ther. 2007 Feb;6(2):209-17. Epub 2007 Feb 25.
4. Comparison of combined antioxidants and thymoquinone in the prevention of testis ischemia - reperfusion injury. Erol B, etal., Andrology. 2017 Jan;5(1):119-124. doi: 10.1111/andr.12268. Epub 2016 Oct 16.
5. The protective effects of tadalafil on renal damage following ischemia reperfusion injury in rats. Erol B, etal., Kaohsiung J Med Sci. 2015 Sep;31(9):454-62. doi: 10.1016/j.kjms.2015.06.005. Epub 2015 Jul 22.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Formation of the Apaf-1/cytochrome c complex precedes activation of caspase-9 during seizure-induced neuronal death. Henshall DC, etal., Cell Death Differ. 2001 Dec;8(12):1169-81.
8. Immunohistochemical localization of apoptosome-related proteins in Lewy bodies in Parkinson's disease and dementia with Lewy bodies. Kawamoto Y, etal., Brain Res. 2014 Jul 7;1571:39-48. doi: 10.1016/j.brainres.2014.05.007. Epub 2014 May 13.
9. p53- and Bax-mediated apoptosis in injured rat spinal cord. Kotipatruni RR, etal., Neurochem Res. 2011 Nov;36(11):2063-74. doi: 10.1007/s11064-011-0530-2. Epub 2011 Jul 7.
10. MiR-484 promotes non-small-cell lung cancer (NSCLC) progression through inhibiting Apaf-1 associated with the suppression of apoptosis. Li T, etal., Biomed Pharmacother. 2017 Dec;96:153-164. doi: 10.1016/j.biopha.2017.09.102. Epub 2017 Oct 2.
11. An AAV-derived Apaf-1 dominant negative inhibitor prevents MPTP toxicity as antiapoptotic gene therapy for Parkinson's disease. Mochizuki H, etal., Proc Natl Acad Sci U S A. 2001 Sep 11;98(19):10918-23. doi: 10.1073/pnas.191107398. Epub 2001 Sep 4.
12. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
13. Apaf-1 inhibitors protect from unwanted cell death in in vivo models of kidney ischemia and chemotherapy induced ototoxicity. Orzáez M, etal., PLoS One. 2014 Oct 20;9(10):e110979. doi: 10.1371/journal.pone.0110979. eCollection 2014.
14. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. Piroxicam and C-phycocyanin mediated apoptosis in 1,2-dimethylhydrazine dihydrochloride induced colon carcinogenesis: exploring the mitochondrial pathway. Saini MK, etal., Nutr Cancer. 2012 Apr;64(3):409-18. doi: 10.1080/01635581.2012.655402. Epub 2012 Feb 27.
17. Identification of the apoptosis activation cascade induced in mammary carcinomas by energy restriction. Thompson HJ, etal., Cancer Res. 2004 Feb 15;64(4):1541-5.
18. Greater stress protein expression enhanced by combined prostaglandin A1 and lithium in a rat model of focal ischemia. Xu XH, etal., Acta Pharmacol Sin. 2007 Aug;28(8):1097-104.
19. Propofol reduces nitric oxide-induced apoptosis in testicular ischemia-reperfusion injury by downregulating the expression of inducible nitric oxide synthase. Yagmurdur H, etal., Acta Anaesthesiol Scand. 2008 Mar;52(3):350-7. Epub 2008 Jan 16.
20. Differential expression of apoptotic protease-activating factor-1 and caspase-3 genes and susceptibility to apoptosis during brain development and after traumatic brain injury. Yakovlev AG, etal., J Neurosci. 2001 Oct 1;21(19):7439-46.
21. Protective effect of flavonoid-rich extract from Rosa laevigata Michx on cerebral ischemia-reperfusion injury through suppression of apoptosis and inflammation. Zhang S, etal., Neurochem Int. 2013 Nov;63(5):522-32. doi: 10.1016/j.neuint.2013.08.008. Epub 2013 Sep 4.
22. Valproic acid-mediated neuroprotection in retinal ischemia injury via histone deacetylase inhibition and transcriptional activation. Zhang Z, etal., Exp Eye Res. 2012 Jan;94(1):98-108. Epub 2011 Nov 28.
Additional References at PubMed
PMID:9267021   PMID:9390557   PMID:9455477   PMID:9488720   PMID:9539746   PMID:9651578   PMID:9753320   PMID:9829980   PMID:9837928   PMID:9878060   PMID:9922454   PMID:10206961  
PMID:10322433   PMID:10364241   PMID:10376594   PMID:10383829   PMID:10393175   PMID:10441496   PMID:10486928   PMID:10543941   PMID:10578182   PMID:10702682   PMID:10722681   PMID:10764728  
PMID:10934467   PMID:10949025   PMID:11112785   PMID:11113115   PMID:11230124   PMID:11242052   PMID:11389439   PMID:11457460   PMID:11550094   PMID:11821383   PMID:11864614   PMID:12021264  
PMID:12147322   PMID:12149244   PMID:12168954   PMID:12477932   PMID:12549820   PMID:12615903   PMID:12637514   PMID:12804598   PMID:12963020   PMID:14566819   PMID:14747474   PMID:14993223  
PMID:15001356   PMID:15009102   PMID:15026369   PMID:15033720   PMID:15103018   PMID:15262985   PMID:15305193   PMID:15378005   PMID:15590702   PMID:15649154   PMID:15692060   PMID:15703181  
PMID:15735003   PMID:15829969   PMID:15832174   PMID:15832175   PMID:15863166   PMID:15972851   PMID:16046141   PMID:16098052   PMID:16231040   PMID:16232302   PMID:16331630   PMID:16420245  
PMID:16595687   PMID:16951219   PMID:16979168   PMID:17081983   PMID:17133271   PMID:17274640   PMID:17348858   PMID:17361096   PMID:17418785   PMID:17534194   PMID:17541304   PMID:17603079  
PMID:17876870   PMID:17882496   PMID:17885667   PMID:18029348   PMID:18042457   PMID:18093951   PMID:18309324   PMID:18373966   PMID:18439902   PMID:18587251   PMID:18676680   PMID:18719738  
PMID:18834886   PMID:19056867   PMID:19058789   PMID:19074885   PMID:19141860   PMID:19170196   PMID:19238172   PMID:19322201   PMID:19455599   PMID:19494828   PMID:19603830   PMID:19625176  
PMID:19662370   PMID:19675677   PMID:19692168   PMID:19698783   PMID:19801675   PMID:19809088   PMID:19913121   PMID:20216471   PMID:20345447   PMID:20379614   PMID:20453000   PMID:20462491  
PMID:20628086   PMID:20829884   PMID:20959405   PMID:20977544   PMID:21104989   PMID:21297999   PMID:21371431   PMID:21528061   PMID:21659556   PMID:21827945   PMID:21873635   PMID:21922274  
PMID:22101335   PMID:22246185   PMID:22335196   PMID:22632162   PMID:22658674   PMID:22996741   PMID:23085065   PMID:23207240   PMID:23326121   PMID:23521171   PMID:23822711   PMID:24038028  
PMID:24142530   PMID:24416260   PMID:24424093   PMID:25599959   PMID:25695197   PMID:25701323   PMID:25737303   PMID:25895636   PMID:26014357   PMID:26179084   PMID:26183023   PMID:26186194  
PMID:26290316   PMID:26740177   PMID:26743285   PMID:26851285   PMID:27021436   PMID:27032384   PMID:27141571   PMID:27197231   PMID:27476169   PMID:27480415   PMID:27863378   PMID:28143931  
PMID:28423356   PMID:28429233   PMID:28453462   PMID:28514442   PMID:28627586   PMID:28716524   PMID:28895780   PMID:28986522   PMID:29352212   PMID:29358613   PMID:29395479   PMID:29410086  
PMID:29511177   PMID:29955894   PMID:30021884   PMID:30066861   PMID:30072015   PMID:31094091   PMID:31131537   PMID:31255735   PMID:31329620   PMID:31343991   PMID:31498791   PMID:31577950  
PMID:31871319   PMID:32190895   PMID:32461338   PMID:32653692   PMID:32807901   PMID:33087821   PMID:33132160   PMID:33177505   PMID:33308446   PMID:33386492   PMID:33957083   PMID:33961781  
PMID:34159380   PMID:34298080   PMID:34507064   PMID:34898374   PMID:35030371   PMID:35509820   PMID:35563538   PMID:35831314   PMID:35975461   PMID:36215168   PMID:36634849   PMID:37108258  
PMID:38334954   PMID:38348717  


Genomics

Comparative Map Data
APAF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381298,645,290 - 98,735,433 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1298,645,149 - 98,735,433 (+)EnsemblGRCh38hg38GRCh38
GRCh371299,039,068 - 99,129,211 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361297,563,209 - 97,653,342 (+)NCBINCBI36Build 36hg18NCBI36
Build 341297,541,545 - 97,631,678NCBI
Celera1298,703,974 - 98,794,106 (+)NCBICelera
Cytogenetic Map12q23.1NCBI
HuRef1296,100,029 - 96,190,306 (+)NCBIHuRef
CHM1_11299,004,024 - 99,094,151 (+)NCBICHM1_1
T2T-CHM13v2.01298,618,230 - 98,708,377 (+)NCBIT2T-CHM13v2.0
Apaf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391090,825,173 - 90,918,688 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1090,825,173 - 90,918,632 (-)EnsemblGRCm39 Ensembl
GRCm381090,989,311 - 91,082,743 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1090,989,311 - 91,082,770 (-)EnsemblGRCm38mm10GRCm38
MGSCv371090,452,056 - 90,545,488 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361090,420,401 - 90,512,501 (-)NCBIMGSCv36mm8
Celera1092,983,615 - 93,080,742 (-)NCBICelera
Cytogenetic Map10C2NCBI
cM Map1045.47NCBI
Apaf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8727,381,392 - 27,466,772 (-)NCBIGRCr8
mRatBN7.2725,494,143 - 25,579,540 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl725,494,609 - 25,579,540 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx727,489,053 - 27,573,980 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0729,651,444 - 29,736,367 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0729,428,845 - 29,513,775 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0731,699,309 - 31,784,192 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl731,699,885 - 31,784,192 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0731,791,073 - 31,872,984 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4727,932,908 - 28,020,533 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1727,953,178 - 28,040,804 (-)NCBI
Celera722,620,761 - 22,706,298 (-)NCBICelera
Cytogenetic Map7q13NCBI
Apaf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540534,623,267 - 34,693,677 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540534,619,780 - 34,693,616 (+)NCBIChiLan1.0ChiLan1.0
APAF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210106,708,019 - 106,797,626 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112106,704,415 - 106,791,255 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01296,224,515 - 96,311,246 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11299,637,622 - 99,726,946 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1299,637,622 - 99,726,939 (+)Ensemblpanpan1.1panPan2
APAF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11538,026,893 - 38,160,842 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1538,028,132 - 38,114,987 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1538,408,276 - 38,554,051 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01538,689,945 - 38,835,971 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1538,689,948 - 38,780,498 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11537,961,882 - 38,107,501 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01538,054,503 - 38,200,556 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01538,328,187 - 38,474,238 (+)NCBIUU_Cfam_GSD_1.0
Apaf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494521,806,281 - 21,891,969 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649214,816,623 - 14,902,132 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649214,818,561 - 14,902,231 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APAF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl585,166,628 - 85,258,364 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1585,166,616 - 85,258,751 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2589,443,106 - 89,580,992 (-)NCBISscrofa10.2Sscrofa10.2susScr3
APAF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11193,942,137 - 94,024,728 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1193,942,103 - 94,024,457 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037151,034,383 - 151,120,759 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Apaf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247508,837,037 - 8,938,009 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247508,835,521 - 8,940,957 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in APAF1
75 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3 copy number gain See cases [RCV000137891] Chr12:97394550..101410225 [GRCh38]
Chr12:97788328..101804003 [GRCh37]
Chr12:96312459..100328134 [NCBI36]
Chr12:12q23.1-23.2
likely pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_181861.2(APAF1):c.2383G>C (p.Glu795Gln) single nucleotide variant Inborn genetic diseases [RCV000623514] Chr12:98699486 [GRCh38]
Chr12:99093264 [GRCh37]
Chr12:12q23.1
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_181861.2(APAF1):c.2249G>A (p.Arg750Lys) single nucleotide variant Inborn genetic diseases [RCV000624564] Chr12:98686818 [GRCh38]
Chr12:99080596 [GRCh37]
Chr12:12q23.1
uncertain significance
GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3 copy number gain not provided [RCV000683473] Chr12:96719383..101537641 [GRCh37]
Chr12:12q23.1
likely pathogenic
NM_181861.2(APAF1):c.104dup (p.Leu35fs) duplication Neural tube defect [RCV000709688] Chr12:98648458..98648459 [GRCh38]
Chr12:99042236..99042237 [GRCh37]
Chr12:12q23.1
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q22-23.2(chr12:94881995-103635998)x3 copy number gain not provided [RCV000750524] Chr12:94881995..103635998 [GRCh37]
Chr12:12q22-23.2
pathogenic
NM_181861.2(APAF1):c.2436G>A (p.Arg812=) single nucleotide variant not provided [RCV000921316] Chr12:98699539 [GRCh38]
Chr12:99093317 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.3074C>A (p.Ala1025Asp) single nucleotide variant APAF1-related disorder [RCV003920520]|not provided [RCV000880862] Chr12:98715542 [GRCh38]
Chr12:99109320 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_181861.2(APAF1):c.1874A>C (p.Glu625Ala) single nucleotide variant APAF1-related disorder [RCV003920600]|not provided [RCV000884070] Chr12:98677505 [GRCh38]
Chr12:99071283 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_181861.2(APAF1):c.1336A>T (p.Thr446Ser) single nucleotide variant APAF1-related disorder [RCV003928454]|not provided [RCV000969079] Chr12:98666331 [GRCh38]
Chr12:99060109 [GRCh37]
Chr12:12q23.1
benign
GRCh37/hg19 12q23.1(chr12:98968226-99077328)x3 copy number gain not provided [RCV000847707] Chr12:98968226..99077328 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.1125C>T (p.Leu375=) single nucleotide variant not provided [RCV000939627] Chr12:98665722 [GRCh38]
Chr12:99059500 [GRCh37]
Chr12:12q23.1
likely benign
GRCh37/hg19 12q23.1(chr12:98360850-99487172)x3 copy number gain not provided [RCV000848073] Chr12:98360850..99487172 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.3347T>C (p.Leu1116Pro) single nucleotide variant APAF1-related disorder [RCV003957971]|not provided [RCV000892513] Chr12:98725431 [GRCh38]
Chr12:99119209 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.2612C>T (p.Ser871Leu) single nucleotide variant APAF1-related disorder [RCV003932932]|not provided [RCV000908205] Chr12:98706501 [GRCh38]
Chr12:99100279 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.1077T>C (p.Tyr359=) single nucleotide variant APAF1-related disorder [RCV003915804]|not provided [RCV000952709] Chr12:98665674 [GRCh38]
Chr12:99059452 [GRCh37]
Chr12:12q23.1
benign
NM_181861.2(APAF1):c.2047-3T>C single nucleotide variant APAF1-related disorder [RCV003915930]|not provided [RCV000957105] Chr12:98683140 [GRCh38]
Chr12:99076918 [GRCh37]
Chr12:12q23.1
benign
NM_181861.2(APAF1):c.2407T>G (p.Cys803Gly) single nucleotide variant not specified [RCV004317480] Chr12:98699510 [GRCh38]
Chr12:99093288 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.1844C>G (p.Thr615Arg) single nucleotide variant not specified [RCV004329166] Chr12:98677475 [GRCh38]
Chr12:99071253 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.2942A>G (p.Glu981Gly) single nucleotide variant not specified [RCV004127996] Chr12:98712419 [GRCh38]
Chr12:99106197 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.1561C>T (p.His521Tyr) single nucleotide variant not specified [RCV004097993] Chr12:98671039 [GRCh38]
Chr12:99064817 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.3395G>T (p.Cys1132Phe) single nucleotide variant not specified [RCV004137034] Chr12:98725479 [GRCh38]
Chr12:99119257 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.2483C>T (p.Thr828Ile) single nucleotide variant not specified [RCV004127327] Chr12:98703387 [GRCh38]
Chr12:99097165 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.1361A>G (p.Gln454Arg) single nucleotide variant not specified [RCV004196782] Chr12:98666356 [GRCh38]
Chr12:99060134 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.3610G>A (p.Val1204Ile) single nucleotide variant not specified [RCV004120245] Chr12:98732429 [GRCh38]
Chr12:99126207 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.902T>A (p.Met301Lys) single nucleotide variant not specified [RCV004207301] Chr12:98662753 [GRCh38]
Chr12:99056531 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.1120A>G (p.Met374Val) single nucleotide variant not specified [RCV004131329] Chr12:98665717 [GRCh38]
Chr12:99059495 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.37A>G (p.Arg13Gly) single nucleotide variant not specified [RCV004217949] Chr12:98648396 [GRCh38]
Chr12:99042174 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.179T>C (p.Ile60Thr) single nucleotide variant not specified [RCV004599543] Chr12:98648666 [GRCh38]
Chr12:99042444 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.1466A>G (p.Tyr489Cys) single nucleotide variant not specified [RCV004199784] Chr12:98667616 [GRCh38]
Chr12:99061394 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.2834G>A (p.Arg945His) single nucleotide variant not specified [RCV004212313] Chr12:98708697 [GRCh38]
Chr12:99102475 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.293G>A (p.Ser98Asn) single nucleotide variant not specified [RCV004162271] Chr12:98648780 [GRCh38]
Chr12:99042558 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.1751C>A (p.Ala584Asp) single nucleotide variant not specified [RCV004166034] Chr12:98671677 [GRCh38]
Chr12:99065455 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.271A>C (p.Ile91Leu) single nucleotide variant not specified [RCV004244210] Chr12:98648758 [GRCh38]
Chr12:99042536 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.2867T>C (p.Ile956Thr) single nucleotide variant not specified [RCV004151555] Chr12:98712344 [GRCh38]
Chr12:99106122 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.772T>A (p.Cys258Ser) single nucleotide variant not specified [RCV004078909] Chr12:98662517 [GRCh38]
Chr12:99056295 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.205G>A (p.Val69Ile) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004560084]|not specified [RCV004218155] Chr12:98648692 [GRCh38]
Chr12:99042470 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.766A>G (p.Ser256Gly) single nucleotide variant not specified [RCV004323505] Chr12:98662511 [GRCh38]
Chr12:99056289 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.3419C>T (p.Thr1140Ile) single nucleotide variant not specified [RCV004257172] Chr12:98725503 [GRCh38]
Chr12:99119281 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.3286G>A (p.Asp1096Asn) single nucleotide variant not specified [RCV004280057] Chr12:98723720 [GRCh38]
Chr12:99117498 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.1391T>C (p.Phe464Ser) single nucleotide variant not specified [RCV004283192] Chr12:98667541 [GRCh38]
Chr12:99061319 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.1712C>T (p.Pro571Leu) single nucleotide variant not specified [RCV004296691] Chr12:98671638 [GRCh38]
Chr12:99065416 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.1108A>G (p.Ile370Val) single nucleotide variant not specified [RCV004358047] Chr12:98665705 [GRCh38]
Chr12:99059483 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.2845A>G (p.Ile949Val) single nucleotide variant not specified [RCV004359874] Chr12:98712322 [GRCh38]
Chr12:99106100 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.1409C>T (p.Pro470Leu) single nucleotide variant not provided [RCV003390280] Chr12:98667559 [GRCh38]
Chr12:99061337 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.2329G>A (p.Glu777Lys) single nucleotide variant APAF1-related disorder [RCV003929385]|not provided [RCV003885707] Chr12:98699432 [GRCh38]
Chr12:99093210 [GRCh37]
Chr12:12q23.1
benign|likely benign
NM_181861.2(APAF1):c.2240A>G (p.Asn747Ser) single nucleotide variant not specified [RCV004417438] Chr12:98686809 [GRCh38]
Chr12:99080587 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.979A>G (p.Ile327Val) single nucleotide variant not specified [RCV004417453] Chr12:98665576 [GRCh38]
Chr12:99059354 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.274C>T (p.Pro92Ser) single nucleotide variant not specified [RCV004417441] Chr12:98648761 [GRCh38]
Chr12:99042539 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.287C>T (p.Ser96Phe) single nucleotide variant not specified [RCV004417443] Chr12:98648774 [GRCh38]
Chr12:99042552 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.2978A>G (p.Asn993Ser) single nucleotide variant not specified [RCV004417444] Chr12:98715446 [GRCh38]
Chr12:99109224 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.3040G>A (p.Asp1014Asn) single nucleotide variant not specified [RCV004417445] Chr12:98715508 [GRCh38]
Chr12:99109286 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.434G>T (p.Gly145Val) single nucleotide variant not specified [RCV004417449] Chr12:98649592 [GRCh38]
Chr12:99043370 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.2345A>C (p.Asn782Thr) single nucleotide variant not provided [RCV003885642] Chr12:98699448 [GRCh38]
Chr12:99093226 [GRCh37]
Chr12:12q23.1
benign
NM_181861.2(APAF1):c.3112A>G (p.Ile1038Val) single nucleotide variant APAF1-related disorder [RCV003982074] Chr12:98723220 [GRCh38]
Chr12:99116998 [GRCh37]
Chr12:12q23.1
benign
NM_181861.2(APAF1):c.2463C>A (p.Ile821=) single nucleotide variant APAF1-related disorder [RCV003914674] Chr12:98699566 [GRCh38]
Chr12:99093344 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.1478G>A (p.Ser493Asn) single nucleotide variant not specified [RCV004417437] Chr12:98667628 [GRCh38]
Chr12:99061406 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.3430A>G (p.Thr1144Ala) single nucleotide variant not specified [RCV004417448] Chr12:98725514 [GRCh38]
Chr12:99119292 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.3457-7T>C single nucleotide variant APAF1-related disorder [RCV003917349] Chr12:98727166 [GRCh38]
Chr12:99120944 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.676C>T (p.Arg226Cys) single nucleotide variant not specified [RCV004417450] Chr12:98659309 [GRCh38]
Chr12:99053087 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.3205-5_3205-4del deletion APAF1-related disorder [RCV003924491] Chr12:98723620..98723621 [GRCh38]
Chr12:99117398..99117399 [GRCh37]
Chr12:12q23.1
benign
NM_181861.2(APAF1):c.2952C>T (p.Ala984=) single nucleotide variant APAF1-related disorder [RCV003907065] Chr12:98712429 [GRCh38]
Chr12:99106207 [GRCh37]
Chr12:12q23.1
benign
NM_181861.2(APAF1):c.2421T>G (p.Ser807=) single nucleotide variant APAF1-related disorder [RCV003907236] Chr12:98699524 [GRCh38]
Chr12:99093302 [GRCh37]
Chr12:12q23.1
benign
NM_181861.2(APAF1):c.2022C>A (p.Thr674=) single nucleotide variant APAF1-related disorder [RCV003919586] Chr12:98680378 [GRCh38]
Chr12:99074156 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.527-10C>T single nucleotide variant APAF1-related disorder [RCV003924352] Chr12:98659150 [GRCh38]
Chr12:99052928 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.1009C>T (p.Arg337Cys) single nucleotide variant not specified [RCV004417435] Chr12:98665606 [GRCh38]
Chr12:99059384 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.1424C>T (p.Pro475Leu) single nucleotide variant not specified [RCV004417436] Chr12:98667574 [GRCh38]
Chr12:99061352 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.2506C>T (p.His836Tyr) single nucleotide variant not specified [RCV004417439] Chr12:98703410 [GRCh38]
Chr12:99097188 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.2681G>A (p.Gly894Glu) single nucleotide variant not specified [RCV004417440] Chr12:98706570 [GRCh38]
Chr12:99100348 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.3205G>T (p.Val1069Leu) single nucleotide variant not specified [RCV004417447] Chr12:98723639 [GRCh38]
Chr12:99117417 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.746G>C (p.Trp249Ser) single nucleotide variant not specified [RCV004417451] Chr12:98662491 [GRCh38]
Chr12:99056269 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.2748G>A (p.Lys916=) single nucleotide variant APAF1-related disorder [RCV003924526] Chr12:98708611 [GRCh38]
Chr12:99102389 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.912A>G (p.Ala304=) single nucleotide variant APAF1-related disorder [RCV003969100] Chr12:98662763 [GRCh38]
Chr12:99056541 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.*3T>C single nucleotide variant APAF1-related disorder [RCV003924343] Chr12:98732569 [GRCh38]
Chr12:99126347 [GRCh37]
Chr12:12q23.1
benign
NM_181861.2(APAF1):c.1248G>A (p.Gln416=) single nucleotide variant APAF1-related disorder [RCV003941813] Chr12:98666243 [GRCh38]
Chr12:99060021 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.956-4A>T single nucleotide variant APAF1-related disorder [RCV003979083] Chr12:98665549 [GRCh38]
Chr12:99059327 [GRCh37]
Chr12:12q23.1
likely benign
NM_181861.2(APAF1):c.3061A>G (p.Ser1021Gly) single nucleotide variant not specified [RCV004417446] Chr12:98715529 [GRCh38]
Chr12:99109307 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.92G>C (p.Ser31Thr) single nucleotide variant not specified [RCV004652669] Chr12:98648451 [GRCh38]
Chr12:99042229 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.3007A>G (p.Lys1003Glu) single nucleotide variant not specified [RCV004652663] Chr12:98715475 [GRCh38]
Chr12:99109253 [GRCh37]
Chr12:12q23.1
uncertain significance
NM_181861.2(APAF1):c.439C>A (p.Pro147Thr) single nucleotide variant not specified [RCV004652676] Chr12:98649597 [GRCh38]
Chr12:99043375 [GRCh37]
Chr12:12q23.1
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR222hsa-miR-222-3pOncomiRDBexternal_infoNANA22157681
MIR221hsa-miR-221-3pOncomiRDBexternal_infoNANA22157681
MIR155hsa-miR-155-5pOncomiRDBexternal_infoNANA22996741

Predicted Target Of
Summary Value
Count of predictions:7471
Count of miRNA genes:996
Interacting mature miRNAs:1186
Transcripts:ENST00000333991, ENST00000339433, ENST00000357310, ENST00000359972, ENST00000546491, ENST00000547045, ENST00000547666, ENST00000547743, ENST00000549007, ENST00000550527, ENST00000551964, ENST00000552268, ENST00000552929, ENST00000555047
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406960560GWAS609536_Hcomplement C1q tumor necrosis factor-related protein 5 measurement QTL GWAS609536 (human)2e-20complement C1q tumor necrosis factor-related protein 5 measurement129871064398710644Human
1559125SPSL2_HSerum P-selectin level QTL 2 (human)2.59Serum P-selectin level1289897665115897665Human
1643258BW205_HBody weight QTL 205 (human)4.080.00001Body fat amountpercent body fat1296630114122630114Human
407168961GWAS817937_HTinnitus QTL GWAS817937 (human)0.000007Tinnitus129872314298723143Human
406907272GWAS556248_Hbody fat percentage QTL GWAS556248 (human)3e-08body fat percentagebody fat percentage (CMO:0000302)129873509498735095Human
1643264BW195_HBody weight QTL 195 (human)0.0151Body weightBMI1289897665115897665Human
407337614GWAS986590_HBMI-adjusted hip circumference QTL GWAS986590 (human)3e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)129871522098715221Human
407356542GWAS1005518_HBMI-adjusted hip circumference QTL GWAS1005518 (human)5e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)129871854598718546Human
407189272GWAS838248_Hcolor vision disorder QTL GWAS838248 (human)0.000002color vision disorder129865863998658640Human
407268891GWAS917867_Hbody height QTL GWAS917867 (human)2e-18body height (VT:0001253)body height (CMO:0000106)129867724598677246Human
1358827MULTSCL22_HMultiple sclerosis susceptibility QTL 22 (human)Multiple sclerosis susceptibility1289897665115897665Human
1357387BW58_HBody weight QTL 58 (human)2.30.0001Body weightfat free mass after exercise training1289438856115438856Human

Markers in Region
SHGC-79800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371299,075,340 - 99,075,662UniSTSGRCh37
Build 361297,599,471 - 97,599,793RGDNCBI36
Celera1298,740,237 - 98,740,559RGD
Cytogenetic Map12q23UniSTS
HuRef1296,136,451 - 96,136,773UniSTS
TNG Radiation Hybrid Map1248214.0UniSTS
SHGC-79820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371299,075,288 - 99,075,599UniSTSGRCh37
Build 361297,599,419 - 97,599,730RGDNCBI36
Celera1298,740,185 - 98,740,496RGD
Cytogenetic Map12q23UniSTS
HuRef1296,136,399 - 96,136,710UniSTS
TNG Radiation Hybrid Map1248214.0UniSTS
SHGC-79823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371299,075,223 - 99,075,544UniSTSGRCh37
Build 361297,599,354 - 97,599,675RGDNCBI36
Celera1298,740,120 - 98,740,441RGD
Cytogenetic Map12q23UniSTS
HuRef1296,136,334 - 96,136,655UniSTS
TNG Radiation Hybrid Map1248214.0UniSTS
RH69665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371299,128,942 - 99,129,102UniSTSGRCh37
Build 361297,653,073 - 97,653,233RGDNCBI36
Celera1298,793,837 - 98,793,997RGD
Cytogenetic Map12q23UniSTS
Cytogenetic Map12q23.1UniSTS
HuRef1296,190,037 - 96,190,197UniSTS
GeneMap99-GB4 RH Map12384.31UniSTS
PMC310794P40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371299,059,706 - 99,060,002UniSTSGRCh37
Build 361297,583,837 - 97,584,133RGDNCBI36
Celera1298,724,603 - 98,724,899RGD
Cytogenetic Map12q23UniSTS
HuRef1296,120,816 - 96,121,112UniSTS
APAF1_7746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371299,128,485 - 99,129,323UniSTSGRCh37
Build 361297,652,616 - 97,653,454RGDNCBI36
Celera1298,793,380 - 98,794,218RGD
HuRef1296,189,580 - 96,190,418UniSTS
A009H22  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371299,057,955 - 99,058,168UniSTSGRCh37
Build 361297,582,086 - 97,582,299RGDNCBI36
Celera1298,722,852 - 98,723,065RGD
Cytogenetic Map12q23UniSTS
HuRef1296,118,706 - 96,119,280UniSTS
HuRef1296,119,067 - 96,119,280UniSTS
GeneMap99-GB4 RH Map12384.31UniSTS
GDB:313557  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19p13.12UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
L17791  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11q23.1UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
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
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
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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
G32545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371299,057,955 - 99,058,168UniSTSGRCh37
Celera1298,722,852 - 98,723,065UniSTS
Cytogenetic Map12q23UniSTS
HuRef1296,119,067 - 96,119,280UniSTS
HuRef1296,118,706 - 96,119,280UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_429095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB070829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB103079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF013263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF134397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF149794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF248734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF560718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000333991   ⟹   ENSP00000334558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,645,300 - 98,735,426 (+)Ensembl
Ensembl Acc Id: ENST00000357310   ⟹   ENSP00000349862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,645,300 - 98,735,426 (+)Ensembl
Ensembl Acc Id: ENST00000359972   ⟹   ENSP00000353059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,645,300 - 98,735,433 (+)Ensembl
Ensembl Acc Id: ENST00000546491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,699,496 - 98,712,761 (+)Ensembl
Ensembl Acc Id: ENST00000547045   ⟹   ENSP00000449791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,648,355 - 98,732,687 (+)Ensembl
Ensembl Acc Id: ENST00000547666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,733,648 - 98,735,418 (+)Ensembl
Ensembl Acc Id: ENST00000547743   ⟹   ENSP00000450175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,645,671 - 98,648,932 (+)Ensembl
Ensembl Acc Id: ENST00000549007   ⟹   ENSP00000448161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,648,360 - 98,732,566 (+)Ensembl
Ensembl Acc Id: ENST00000550527   ⟹   ENSP00000448449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,648,353 - 98,735,426 (+)Ensembl
Ensembl Acc Id: ENST00000551964   ⟹   ENSP00000448165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,645,290 - 98,735,433 (+)Ensembl
Ensembl Acc Id: ENST00000552268   ⟹   ENSP00000448826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,648,316 - 98,732,563 (+)Ensembl
Ensembl Acc Id: ENST00000552929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,723,269 - 98,733,059 (+)Ensembl
Ensembl Acc Id: ENST00000555047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,670,861 - 98,671,697 (+)Ensembl
Ensembl Acc Id: ENST00000715693   ⟹   ENSP00000520503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1298,645,149 - 98,735,360 (+)Ensembl
RefSeq Acc Id: NM_001160   ⟹   NP_001151
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381298,645,290 - 98,735,433 (+)NCBI
GRCh371299,039,078 - 99,129,211 (+)ENTREZGENE
Build 361297,563,209 - 97,653,342 (+)NCBI Archive
HuRef1296,100,029 - 96,190,306 (+)ENTREZGENE
CHM1_11299,004,024 - 99,094,151 (+)NCBI
T2T-CHM13v2.01298,618,230 - 98,708,377 (+)NCBI
Sequence:
RefSeq Acc Id: NM_013229   ⟹   NP_037361
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381298,645,290 - 98,735,433 (+)NCBI
GRCh371299,039,078 - 99,129,211 (+)ENTREZGENE
Build 361297,563,209 - 97,653,342 (+)NCBI Archive
HuRef1296,100,029 - 96,190,306 (+)ENTREZGENE
CHM1_11299,004,024 - 99,094,151 (+)NCBI
T2T-CHM13v2.01298,618,230 - 98,708,377 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181861   ⟹   NP_863651
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381298,645,290 - 98,735,433 (+)NCBI
GRCh371299,039,078 - 99,129,211 (+)NCBI
Build 361297,563,209 - 97,653,342 (+)NCBI Archive
HuRef1296,100,029 - 96,190,306 (+)ENTREZGENE
CHM1_11299,004,024 - 99,094,151 (+)NCBI
T2T-CHM13v2.01298,618,230 - 98,708,377 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181868   ⟹   NP_863658
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381298,645,290 - 98,735,433 (+)NCBI
GRCh371299,039,078 - 99,129,211 (+)ENTREZGENE
Build 361297,563,209 - 97,653,342 (+)NCBI Archive
HuRef1296,100,029 - 96,190,306 (+)ENTREZGENE
CHM1_11299,004,024 - 99,094,151 (+)NCBI
T2T-CHM13v2.01298,618,230 - 98,708,377 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181869   ⟹   NP_863659
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381298,645,290 - 98,735,433 (+)NCBI
GRCh371299,039,078 - 99,129,211 (+)ENTREZGENE
Build 361297,563,209 - 97,653,342 (+)NCBI Archive
HuRef1296,100,029 - 96,190,306 (+)ENTREZGENE
CHM1_11299,004,024 - 99,094,151 (+)NCBI
T2T-CHM13v2.01298,618,230 - 98,708,377 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019250   ⟹   XP_016874739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381298,645,290 - 98,665,358 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428758   ⟹   XP_047284714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381298,662,726 - 98,735,433 (+)NCBI
RefSeq Acc Id: XM_047428759   ⟹   XP_047284715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381298,645,290 - 98,699,569 (+)NCBI
RefSeq Acc Id: XM_047428760   ⟹   XP_047284716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381298,645,290 - 98,666,312 (+)NCBI
RefSeq Acc Id: XM_054371908   ⟹   XP_054227883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01298,635,668 - 98,708,377 (+)NCBI
RefSeq Acc Id: XM_054371909   ⟹   XP_054227884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01298,618,230 - 98,672,506 (+)NCBI
RefSeq Acc Id: XM_054371910   ⟹   XP_054227885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01298,618,230 - 98,639,258 (+)NCBI
RefSeq Acc Id: XM_054371911   ⟹   XP_054227886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01298,618,230 - 98,638,707 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001151 (Get FASTA)   NCBI Sequence Viewer  
  NP_037361 (Get FASTA)   NCBI Sequence Viewer  
  NP_863651 (Get FASTA)   NCBI Sequence Viewer  
  NP_863658 (Get FASTA)   NCBI Sequence Viewer  
  NP_863659 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874739 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284714 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284715 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284716 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227883 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227884 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227885 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227886 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC51678 (Get FASTA)   NCBI Sequence Viewer  
  AAD34016 (Get FASTA)   NCBI Sequence Viewer  
  AAD38344 (Get FASTA)   NCBI Sequence Viewer  
  AAI36532 (Get FASTA)   NCBI Sequence Viewer  
  AAI36533 (Get FASTA)   NCBI Sequence Viewer  
  AAI50256 (Get FASTA)   NCBI Sequence Viewer  
  AAK28401 (Get FASTA)   NCBI Sequence Viewer  
  ABQ59028 (Get FASTA)   NCBI Sequence Viewer  
  BAA24843 (Get FASTA)   NCBI Sequence Viewer  
  BAC77343 (Get FASTA)   NCBI Sequence Viewer  
  CAB55579 (Get FASTA)   NCBI Sequence Viewer  
  CAB55580 (Get FASTA)   NCBI Sequence Viewer  
  CAB55581 (Get FASTA)   NCBI Sequence Viewer  
  CAB55582 (Get FASTA)   NCBI Sequence Viewer  
  CAB55583 (Get FASTA)   NCBI Sequence Viewer  
  CAB55584 (Get FASTA)   NCBI Sequence Viewer  
  CAB55585 (Get FASTA)   NCBI Sequence Viewer  
  CAB55586 (Get FASTA)   NCBI Sequence Viewer  
  CAB55587 (Get FASTA)   NCBI Sequence Viewer  
  CAB55588 (Get FASTA)   NCBI Sequence Viewer  
  CAB56462 (Get FASTA)   NCBI Sequence Viewer  
  CAB65085 (Get FASTA)   NCBI Sequence Viewer  
  CAB65086 (Get FASTA)   NCBI Sequence Viewer  
  CAB65087 (Get FASTA)   NCBI Sequence Viewer  
  EAW97603 (Get FASTA)   NCBI Sequence Viewer  
  EAW97604 (Get FASTA)   NCBI Sequence Viewer  
  EAW97605 (Get FASTA)   NCBI Sequence Viewer  
  EAW97606 (Get FASTA)   NCBI Sequence Viewer  
  EAW97607 (Get FASTA)   NCBI Sequence Viewer  
  EAW97608 (Get FASTA)   NCBI Sequence Viewer  
  EAW97609 (Get FASTA)   NCBI Sequence Viewer  
  EAW97610 (Get FASTA)   NCBI Sequence Viewer  
  EAW97611 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000334558
  ENSP00000334558.1
  ENSP00000349862
  ENSP00000349862.1
  ENSP00000353059
  ENSP00000353059.2
  ENSP00000448161.1
  ENSP00000448165
  ENSP00000448165.2
  ENSP00000448449
  ENSP00000448449.1
  ENSP00000448826.1
  ENSP00000449791.1
  ENSP00000450175.1
GenBank Protein O14727 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_863651   ⟸   NM_181861
- Peptide Label: isoform c
- UniProtKB: Q9UJ67 (UniProtKB/Swiss-Prot),   Q9UJ66 (UniProtKB/Swiss-Prot),   Q9UJ65 (UniProtKB/Swiss-Prot),   Q9UJ64 (UniProtKB/Swiss-Prot),   Q9UJ63 (UniProtKB/Swiss-Prot),   Q9UJ62 (UniProtKB/Swiss-Prot),   Q9UJ61 (UniProtKB/Swiss-Prot),   Q9UJ60 (UniProtKB/Swiss-Prot),   Q9UJ59 (UniProtKB/Swiss-Prot),   Q9UJ58 (UniProtKB/Swiss-Prot),   Q9UGP0 (UniProtKB/Swiss-Prot),   Q9UGN9 (UniProtKB/Swiss-Prot),   Q9UGN8 (UniProtKB/Swiss-Prot),   Q9UBZ5 (UniProtKB/Swiss-Prot),   Q9BXZ6 (UniProtKB/Swiss-Prot),   Q7Z438 (UniProtKB/Swiss-Prot),   O43297 (UniProtKB/Swiss-Prot),   B2RMX8 (UniProtKB/Swiss-Prot),   Q9UNC9 (UniProtKB/Swiss-Prot),   O14727 (UniProtKB/Swiss-Prot),   A7E2A2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_863658   ⟸   NM_181868
- Peptide Label: isoform d
- UniProtKB: A5YM44 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_863659   ⟸   NM_181869
- Peptide Label: isoform e
- UniProtKB: O14727 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_037361   ⟸   NM_013229
- Peptide Label: isoform a
- UniProtKB: A7E2A2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001151   ⟸   NM_001160
- Peptide Label: isoform b
- UniProtKB: A5YM44 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874739   ⟸   XM_017019250
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000353059   ⟸   ENST00000359972
Ensembl Acc Id: ENSP00000334558   ⟸   ENST00000333991
Ensembl Acc Id: ENSP00000450175   ⟸   ENST00000547743
Ensembl Acc Id: ENSP00000449791   ⟸   ENST00000547045
Ensembl Acc Id: ENSP00000448161   ⟸   ENST00000549007
Ensembl Acc Id: ENSP00000448449   ⟸   ENST00000550527
Ensembl Acc Id: ENSP00000448165   ⟸   ENST00000551964
Ensembl Acc Id: ENSP00000448826   ⟸   ENST00000552268
Ensembl Acc Id: ENSP00000349862   ⟸   ENST00000357310
RefSeq Acc Id: XP_047284715   ⟸   XM_047428759
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047284716   ⟸   XM_047428760
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047284714   ⟸   XM_047428758
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227884   ⟸   XM_054371909
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227885   ⟸   XM_054371910
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054227886   ⟸   XM_054371911
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227883   ⟸   XM_054371908
- Peptide Label: isoform X1
Ensembl Acc Id: ENSP00000520503   ⟸   ENST00000715693
Protein Domains
CARD   NB-ARC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14727-F1-model_v2 AlphaFold O14727 1-1248 view protein structure

Promoters
RGD ID:6790150
Promoter ID:HG_KWN:16404
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000339433,   ENST00000393042,   NM_001160,   NM_013229,   NM_153687,   NM_181861,   NM_181868,   NM_181869,   NM_201612
Position:
Human AssemblyChrPosition (strand)Source
Build 361297,561,451 - 97,563,302 (-)MPROMDB
RGD ID:7225123
Promoter ID:EPDNEW_H18307
Type:initiation region
Name:APAF1_2
Description:apoptotic peptidase activating factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18308  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381298,645,141 - 98,645,201EPDNEW
RGD ID:7225125
Promoter ID:EPDNEW_H18308
Type:initiation region
Name:APAF1_1
Description:apoptotic peptidase activating factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18307  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381298,645,290 - 98,645,350EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:576 AgrOrtholog
COSMIC APAF1 COSMIC
Ensembl Genes ENSG00000120868 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000333991 ENTREZGENE
  ENST00000333991.5 UniProtKB/Swiss-Prot
  ENST00000357310 ENTREZGENE
  ENST00000357310.5 UniProtKB/Swiss-Prot
  ENST00000359972 ENTREZGENE
  ENST00000359972.6 UniProtKB/Swiss-Prot
  ENST00000547045.5 UniProtKB/Swiss-Prot
  ENST00000547743.1 UniProtKB/TrEMBL
  ENST00000549007.1 UniProtKB/TrEMBL
  ENST00000550527 ENTREZGENE
  ENST00000550527.5 UniProtKB/Swiss-Prot
  ENST00000551964 ENTREZGENE
  ENST00000551964.6 UniProtKB/Swiss-Prot
  ENST00000552268.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.533.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.8.430 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120868 GTEx
HGNC ID HGNC:576 ENTREZGENE
Human Proteome Map APAF1 Human Proteome Map
InterPro Apaf-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APAF1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APAF1_CARD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APAF1_WHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Apaf_helical UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CRADD UniProtKB/TrEMBL
  DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NB-ARC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Quinonprotein_ADH-like_supfam UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:317 UniProtKB/Swiss-Prot
NCBI Gene 317 ENTREZGENE
OMIM 602233 OMIM
PANTHER APOPTOTIC PROTEASE-ACTIVATING FACTOR 1 UniProtKB/Swiss-Prot
  APOPTOTIC PROTEASE-ACTIVATING FACTOR 1 UniProtKB/Swiss-Prot
  APOPTOTIC PROTEASE-ACTIVATING FACTOR 1 UniProtKB/TrEMBL
  APOPTOTIC PROTEASE-ACTIVATING FACTOR 1 UniProtKB/TrEMBL
  DEATH DOMAIN-CONTAINING PROTEIN CRADD UniProtKB/TrEMBL
  DEATH DOMAIN-CONTAINING PROTEIN CRADD UniProtKB/TrEMBL
Pfam APAF-1-like_WHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APAF1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NB-ARC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24868 PharmGKB
PIRSF Apop_pept_activating-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS DISEASERSIST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPROTEINBRPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Quin_alc_DH_like UniProtKB/TrEMBL
  SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5YM44 ENTREZGENE, UniProtKB/TrEMBL
  A7E2A2 ENTREZGENE, UniProtKB/TrEMBL
  APAF_HUMAN UniProtKB/Swiss-Prot
  B2RMX8 ENTREZGENE
  C9JLV4_HUMAN UniProtKB/TrEMBL
  F8VNZ0_HUMAN UniProtKB/TrEMBL
  L8E801_HUMAN UniProtKB/TrEMBL
  O14727 ENTREZGENE
  O43297 ENTREZGENE
  Q7Z438 ENTREZGENE
  Q9BXZ6 ENTREZGENE
  Q9UBZ5 ENTREZGENE
  Q9UGN8 ENTREZGENE
  Q9UGN9 ENTREZGENE
  Q9UGP0 ENTREZGENE
  Q9UJ58 ENTREZGENE
  Q9UJ59 ENTREZGENE
  Q9UJ60 ENTREZGENE
  Q9UJ61 ENTREZGENE
  Q9UJ62 ENTREZGENE
  Q9UJ63 ENTREZGENE
  Q9UJ64 ENTREZGENE
  Q9UJ65 ENTREZGENE
  Q9UJ66 ENTREZGENE
  Q9UJ67 ENTREZGENE
  Q9UNC9 ENTREZGENE
UniProt Secondary B2RMX8 UniProtKB/Swiss-Prot
  O43297 UniProtKB/Swiss-Prot
  Q7Z438 UniProtKB/Swiss-Prot
  Q9BXZ6 UniProtKB/Swiss-Prot
  Q9UBZ5 UniProtKB/Swiss-Prot
  Q9UGN8 UniProtKB/Swiss-Prot
  Q9UGN9 UniProtKB/Swiss-Prot
  Q9UGP0 UniProtKB/Swiss-Prot
  Q9UJ58 UniProtKB/Swiss-Prot
  Q9UJ59 UniProtKB/Swiss-Prot
  Q9UJ60 UniProtKB/Swiss-Prot
  Q9UJ61 UniProtKB/Swiss-Prot
  Q9UJ62 UniProtKB/Swiss-Prot
  Q9UJ63 UniProtKB/Swiss-Prot
  Q9UJ64 UniProtKB/Swiss-Prot
  Q9UJ65 UniProtKB/Swiss-Prot
  Q9UJ66 UniProtKB/Swiss-Prot
  Q9UJ67 UniProtKB/Swiss-Prot
  Q9UNC9 UniProtKB/Swiss-Prot