ATG7 (autophagy related 7) - Rat Genome Database

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Pathways
Gene: ATG7 (autophagy related 7) Homo sapiens
Analyze
Symbol: ATG7
Name: autophagy related 7
RGD ID: 1312481
HGNC Page HGNC:16935
Description: Enables Atg12 activating enzyme activity and protein homodimerization activity. Involved in several processes, including autophagosome assembly; autophagy of mitochondrion; and cellular response to hyperoxia. Acts upstream of or within autophagy and positive regulation of protein modification process. Located in cytoplasm. Implicated in autosomal recessive spinocerebellar ataxia 31.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: APG7 autophagy 7-like; apg7 autophagy 7-like (s. cerevisiae); APG7-LIKE; APG7L; ATG12-activating enzyme E1 ATG7; ATG7 autophagy related 7 homolog; autophagy-related protein 7; DKFZp434N0735; GSA7; hAGP7; LOC105376952; SCAR31; ubiquitin activating enzyme E1-like protein; ubiquitin-activating enzyme E1-like protein; ubiquitin-like modifier-activating enzyme ATG7; uncharacterized LOC105376952
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38311,272,397 - 11,576,353 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl311,272,309 - 11,557,665 (+)EnsemblGRCh38hg38GRCh38
GRCh37311,314,083 - 11,606,126 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36311,315,160 - 11,571,557 (+)NCBINCBI36Build 36hg18NCBI36
Build 34311,289,101 - 11,571,556NCBI
Celera311,249,448 - 11,534,544 (+)NCBICelera
Cytogenetic Map3p25.3NCBI
HuRef311,248,262 - 11,532,686 (+)NCBIHuRef
CHM1_1311,264,079 - 11,549,266 (+)NCBICHM1_1
T2T-CHM13v2.0311,267,348 - 11,571,596 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-Tetrandrine  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2-(2-Chlorophenyl-4'-chlorophenyl)-1,1-dichloroethene  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2-(tert-butylimino)-5-phenyl-3-(propan-2-yl)-1,3,5-thiadiazinan-4-one  (EXP)
2-deoxy-D-glucose  (EXP)
2-methoxyethanol  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methyladenine  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-nonylphenol  (ISO)
acrolein  (EXP)
actinomycin D  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
alginic acid  (ISO)
all-trans-retinoic acid  (EXP)
alpha-D-galactose  (EXP,ISO)
amiodarone  (EXP)
antirheumatic drug  (EXP)
apigenin  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
atazanavir sulfate  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
buprofezin  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
cadmium sulfide  (EXP)
caffeine  (ISO)
camptothecin  (EXP)
cantharidin  (EXP,ISO)
carbon nanotube  (EXP,ISO)
chenodeoxycholic acid  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
Curcumol  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cypermethrin  (EXP)
D-glucose  (ISO)
DDE  (ISO)
decabromodiphenyl ether  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP,ISO)
dinitrogen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
erlotinib hydrochloride  (EXP)
ethanol  (EXP,ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (EXP)
fenofibrate  (ISO)
fenthion  (ISO)
fingolimod hydrochloride  (EXP)
flavokawain B  (EXP)
folic acid  (ISO)
Fusaric acid  (EXP)
galactose  (EXP,ISO)
gefitinib  (EXP)
geraniol  (EXP)
glucose  (ISO)
glutathione  (EXP)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
hexadecanoic acid  (EXP,ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
indometacin  (EXP,ISO)
inositol  (ISO)
inulin  (ISO)
ivermectin  (EXP)
L-leucine  (ISO)
levamisole  (ISO)
lipopolysaccharide  (ISO)
LY294002  (ISO)
lycopene  (ISO)
melatonin  (ISO)
mirtazapine  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methylnicotinate  (EXP,ISO)
nefazodone  (EXP)
nickel atom  (EXP,ISO)
nickel dichloride  (ISO)
Nonidet P-40  (EXP)
oligopeptide  (EXP)
ozone  (EXP,ISO)
paracetamol  (ISO)
paraquat  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
platycodin D  (EXP)
promethazine  (EXP)
pterostilbene  (EXP)
pyrroloquinoline quinone  (EXP)
quercetin  (EXP)
quercitrin  (EXP)
rotenone  (EXP)
rottlerin  (EXP)
ruthenium red  (ISO)
sirolimus  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
staurosporine  (EXP)
tamoxifen  (ISO)
taurine  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thymoquinone  (EXP)
trichostatin A  (ISO)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc oxide  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult walking behavior  (ISO)
apoptotic process  (ISO)
autophagosome assembly  (IMP,ISO)
autophagy  (IEA,IGI,IMP,ISS)
autophagy of mitochondrion  (IGI,ISO)
cardiac muscle cell apoptotic process  (ISO)
cardiac muscle cell development  (ISO)
cellular response to hyperoxia  (IDA)
cellular response to morphine  (ISO)
cellular response to nitrogen starvation  (IBA)
cellular response to reactive oxygen species  (ISO)
cellular response to sodium arsenite  (ISO)
cellular response to starvation  (IDA,ISO)
central nervous system neuron axonogenesis  (ISO)
cerebellar Purkinje cell layer development  (ISO)
cerebral cortex development  (ISO)
chaperone-mediated autophagy  (ISO)
chromatin organization  (ISO)
defense response to virus  (IMP)
establishment of localization in cell  (ISO)
insulin secretion involved in cellular response to glucose stimulus  (ISO)
intracellular amino acid homeostasis  (ISO)
intracellular sphingolipid homeostasis  (ISO)
late nucleophagy  (IBA)
liver development  (ISO)
macroautophagy  (IMP,ISO)
membrane organization  (ISO)
mitochondrion organization  (ISO)
mucus secretion  (ISO)
negative regulation of apoptotic process  (ISO)
negative regulation of cardiac muscle cell apoptotic process  (ISO)
negative regulation of mitochondrial DNA replication  (ISO)
negative regulation of neuron apoptotic process  (ISO)
negative regulation of phagocytosis  (ISO)
negative regulation of sphingolipid biosynthetic process  (ISO)
negative regulation of type B pancreatic cell apoptotic process  (ISO)
negative stranded viral RNA replication  (ISO)
nervous system process  (ISO)
neuron projection development  (ISO)
organelle organization  (ISO)
piecemeal microautophagy of the nucleus  (IBA)
positive regulation of apoptotic process  (IMP)
positive regulation of autophagy  (ISO)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (ISO)
positive regulation of mucus secretion  (ISO)
positive regulation of programmed cell death  (ISO)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (ISO)
positive regulation of protein catabolic process  (IMP)
positive regulation of protein modification process  (IDA)
post-embryonic development  (ISO)
protein catabolic process  (ISO)
protein modification by small protein conjugation  (IBA,ISO)
protein transport  (IEA)
pyramidal neuron development  (ISO)
regulation of cell development  (ISO)
regulation of circadian rhythm  (ISS)
regulation of hemopoiesis  (ISO)
regulation of protein ubiquitination  (ISO)
response to fluoride  (ISO)
response to glucose  (ISO)
response to nutrient levels  (ISO)
response to starvation  (ISO)
rhythmic process  (IEA)
sphingolipid biosynthetic process  (ISO)
type B pancreatic cell apoptotic process  (ISO)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Autophagy is altered in skeletal and cardiac muscle of spontaneously hypertensive rats. Bloemberg D, etal., Acta Physiol (Oxf). 2014 Feb;210(2):381-91. doi: 10.1111/apha.12178. Epub 2013 Nov 5.
2. Paraplegia increases skeletal muscle autophagy. Fry CS, etal., Muscle Nerve. 2012 Nov;46(5):793-8. doi: 10.1002/mus.23423.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. A novel protective mechanism for mitochondrial aldehyde dehydrogenase (ALDH2) in type i diabetes-induced cardiac dysfunction: role of AMPK-regulated autophagy. Guo Y, etal., Biochim Biophys Acta. 2015 Feb;1852(2):319-31. doi: 10.1016/j.bbadis.2014.05.017. Epub 2014 May 27.
5. Roux-en-Y gastric bypass reduces lipid overaccumulation in liver by upregulating hepatic autophagy in obese diabetic rats. He B, etal., Obes Surg. 2015 Jan;25(1):109-18. doi: 10.1007/s11695-014-1342-7.
6. Autophagy signaling in skeletal muscle of infarcted rats. Jannig PR, etal., PLoS One. 2014 Jan 10;9(1):e85820. doi: 10.1371/journal.pone.0085820. eCollection 2014.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Early and sustained activation of autophagy in degenerating axons after spinal cord injury. Ribas VT, etal., Brain Pathol. 2015 Mar;25(2):157-70. doi: 10.1111/bpa.12170. Epub 2014 Sep 12.
11. Hepatic interferon regulatory factor 8 expression mediates liver ischemia/reperfusion injury in mice. Shi G, etal., Biochem Pharmacol. 2021 Oct;192:114728. doi: 10.1016/j.bcp.2021.114728. Epub 2021 Aug 13.
12. LC3 conjugation system in mammalian autophagy. Tanida I, etal., Int J Biochem Cell Biol. 2004 Dec;36(12):2503-18.
13. Selective removal of mitochondria via mitophagy: distinct pathways for different mitochondrial stresses. Wei H, etal., Biochim Biophys Acta. 2015 Oct;1853(10 Pt B):2784-90. doi: 10.1016/j.bbamcr.2015.03.013. Epub 2015 Apr 1.
14. Autophagy in the heart and liver during normal aging and calorie restriction. Wohlgemuth SE, etal., Rejuvenation Res. 2007 Sep;10(3):281-92.
15. Mammalian autophagy: core molecular machinery and signaling regulation. Yang Z and Klionsky DJ, Curr Opin Cell Biol. 2010 Apr;22(2):124-31. Epub 2009 Dec 23.
16. Autophagy inhibition improves the efficacy of curcumin/temozolomide combination therapy in glioblastomas. Zanotto-Filho A, etal., Cancer Lett. 2015 Mar 28;358(2):220-31. doi: 10.1016/j.canlet.2014.12.044. Epub 2014 Dec 24.
17. Geldanamycin Reduces Abeta-Associated Anxiety and Depression, Concurrent with Autophagy Provocation. Zare N, etal., J Mol Neurosci. 2015 Nov;57(3):317-24. doi: 10.1007/s12031-015-0619-1. Epub 2015 Jul 25.
Additional References at PubMed
PMID:10233149   PMID:11096062   PMID:11825910   PMID:11890701   PMID:12477932   PMID:12890687   PMID:15342556   PMID:15355958   PMID:15489334   PMID:16303743   PMID:16303767   PMID:16344560  
PMID:16704426   PMID:18029348   PMID:18083104   PMID:18187620   PMID:18296641   PMID:18688877   PMID:19124466   PMID:19148225   PMID:19279012   PMID:19635843   PMID:19881538   PMID:20083906  
PMID:20195357   PMID:20379614   PMID:20543840   PMID:20562859   PMID:20697744   PMID:20723759   PMID:21274862   PMID:21655094   PMID:21832049   PMID:21873635   PMID:21903422   PMID:22170151  
PMID:22354037   PMID:22499945   PMID:22622204   PMID:22674379   PMID:22863883   PMID:22927446   PMID:23290079   PMID:23295909   PMID:23386620   PMID:23527187   PMID:23640897   PMID:23824909  
PMID:23894380   PMID:24023838   PMID:24068947   PMID:24097068   PMID:24186333   PMID:24362031   PMID:24681637   PMID:25126726   PMID:25327288   PMID:25339774   PMID:25601754   PMID:25905985  
PMID:25921289   PMID:26043688   PMID:26186194   PMID:26214133   PMID:26344197   PMID:26420661   PMID:26468292   PMID:26701229   PMID:26785669   PMID:26903539   PMID:26930546   PMID:27168493  
PMID:27184077   PMID:27245739   PMID:27268264   PMID:27301338   PMID:27501757   PMID:27742708   PMID:27748808   PMID:27881025   PMID:27981410   PMID:28253953   PMID:28351322   PMID:28389568  
PMID:28514442   PMID:28611215   PMID:28667916   PMID:28669927   PMID:28933598   PMID:28986522   PMID:29033323   PMID:29051972   PMID:29117863   PMID:29122566   PMID:29123153   PMID:29229926  
PMID:29676845   PMID:29794480   PMID:29908161   PMID:29910687   PMID:30224786   PMID:30258106   PMID:30317574   PMID:30387831   PMID:30407747   PMID:30483807   PMID:30573163   PMID:30589566  
PMID:30635654   PMID:30689742   PMID:30690837   PMID:30767704   PMID:30806153   PMID:30827239   PMID:30988371   PMID:31006538   PMID:31072129   PMID:31218739   PMID:31225870   PMID:31242080  
PMID:31586073   PMID:31593983   PMID:31738958   PMID:31857374   PMID:31857589   PMID:32016953   PMID:32043463   PMID:32046105   PMID:32065549   PMID:32282768   PMID:32323768   PMID:32416067  
PMID:32423001   PMID:32449799   PMID:32597834   PMID:32633396   PMID:32661238   PMID:33074585   PMID:33226137   PMID:33323682   PMID:33495541   PMID:33650059   PMID:33846806   PMID:33852843  
PMID:33961781   PMID:34085409   PMID:34161705   PMID:34313536   PMID:34316702   PMID:34321587   PMID:34357569   PMID:34375588   PMID:34453672   PMID:34541900   PMID:35271311   PMID:35405176  
PMID:35509820   PMID:35671810   PMID:35710416   PMID:35725745   PMID:35777002   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36300763   PMID:36674839   PMID:36675134   PMID:37247912  


Genomics

Comparative Map Data
ATG7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38311,272,397 - 11,576,353 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl311,272,309 - 11,557,665 (+)EnsemblGRCh38hg38GRCh38
GRCh37311,314,083 - 11,606,126 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36311,315,160 - 11,571,557 (+)NCBINCBI36Build 36hg18NCBI36
Build 34311,289,101 - 11,571,556NCBI
Celera311,249,448 - 11,534,544 (+)NCBICelera
Cytogenetic Map3p25.3NCBI
HuRef311,248,262 - 11,532,686 (+)NCBIHuRef
CHM1_1311,264,079 - 11,549,266 (+)NCBICHM1_1
T2T-CHM13v2.0311,267,348 - 11,571,596 (+)NCBIT2T-CHM13v2.0
Atg7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396114,620,075 - 114,837,565 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6114,620,058 - 114,837,575 (+)EnsemblGRCm39 Ensembl
GRCm386114,643,127 - 114,860,604 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6114,643,097 - 114,860,614 (+)EnsemblGRCm38mm10GRCm38
MGSCv376114,593,143 - 114,809,954 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366114,608,744 - 114,825,555 (+)NCBIMGSCv36mm8
Celera6116,482,450 - 116,697,418 (+)NCBICelera
Cytogenetic Map6E3NCBI
Atg7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24147,718,663 - 147,925,656 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4147,718,752 - 147,925,593 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4153,970,841 - 154,149,831 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04149,753,892 - 149,932,881 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04148,377,731 - 148,556,715 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04146,570,113 - 146,777,093 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4146,598,413 - 146,777,124 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04209,861,459 - 210,067,618 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44150,814,706 - 150,992,704 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14151,059,546 - 151,153,422 (+)NCBI
Celera4136,643,475 - 136,821,326 (+)NCBICelera
Cytogenetic Map4q42NCBI
Atg7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542914,076,960 - 14,304,236 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542914,076,976 - 14,301,034 (+)NCBIChiLan1.0ChiLan1.0
ATG7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1311,273,372 - 11,556,596 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0311,208,600 - 11,488,757 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1311,554,100 - 11,833,638 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl311,554,100 - 11,833,398 (+)Ensemblpanpan1.1panPan2
ATG7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1206,916,354 - 7,154,849 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl206,916,515 - 7,154,800 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha206,951,793 - 7,189,666 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0206,945,628 - 7,184,158 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl206,944,407 - 7,184,165 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1206,661,904 - 6,900,228 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0207,018,478 - 7,256,616 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0206,989,268 - 7,228,243 (-)NCBIUU_Cfam_GSD_1.0
Atg7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494216,730,443 - 16,981,101 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366021,935,507 - 2,179,256 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049366021,938,720 - 2,179,239 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATG7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1367,417,938 - 67,707,654 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11367,301,756 - 67,699,141 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21374,636,936 - 74,915,764 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATG7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12247,187,305 - 47,571,309 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2247,325,614 - 47,571,070 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041118,943,702 - 119,213,969 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atg7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624943232,618 - 481,290 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624943231,978 - 480,933 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATG7
75 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p25.3-25.2(chr3:8581778-12015238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|See cases [RCV000051480] Chr3:8581778..12015238 [GRCh38]
Chr3:8623464..12056738 [GRCh37]
Chr3:8598464..12031738 [NCBI36]
Chr3:3p25.3-25.2
pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1 copy number loss See cases [RCV000051506] Chr3:10019780..12251358 [GRCh38]
Chr3:10061464..12292857 [GRCh37]
Chr3:10036464..12267857 [NCBI36]
Chr3:3p25.3-25.2
pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1 copy number loss See cases [RCV000137433] Chr3:9394874..11690612 [GRCh38]
Chr3:9436558..11732086 [GRCh37]
Chr3:9411558..11707086 [NCBI36]
Chr3:3p25.3-25.2
pathogenic
GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3 copy number gain See cases [RCV000137309] Chr3:7975734..12636917 [GRCh38]
Chr3:8017421..12678416 [GRCh37]
Chr3:7992421..12653416 [NCBI36]
Chr3:3p26.1-25.2
likely pathogenic
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 copy number loss See cases [RCV000138143] Chr3:32241..12681483 [GRCh38]
Chr3:73914..12722982 [GRCh37]
Chr3:48914..12697982 [NCBI36]
Chr3:3p26.3-25.2
pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1
pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3
pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1 copy number loss See cases [RCV000138376] Chr3:32241..11379835 [GRCh38]
Chr3:73914..11421309 [GRCh37]
Chr3:48914..11396309 [NCBI36]
Chr3:3p26.3-25.3
pathogenic|likely benign
GRCh38/hg38 3p25.3(chr3:11377628-11541810)x1 copy number loss See cases [RCV000139842] Chr3:11377628..11541810 [GRCh38]
Chr3:11419102..11583284 [GRCh37]
Chr3:11394102..11558284 [NCBI36]
Chr3:3p25.3
uncertain significance
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 copy number gain See cases [RCV000143766] Chr3:7356110..14360442 [GRCh38]
Chr3:7397797..14401942 [GRCh37]
Chr3:7372797..14376946 [NCBI36]
Chr3:3p26.1-25.1
pathogenic
GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1 copy number loss See cases [RCV000240139] Chr3:8922160..12338637 [GRCh37]
Chr3:3p25.3-25.2
pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2
pathogenic
NM_001136031.2(ATG7):c.1285-5184G>C single nucleotide variant Lung cancer [RCV000092725] Chr3:11353234 [GRCh38]
Chr3:11394708 [GRCh37]
Chr3:3p25.3
uncertain significance
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 copy number gain See cases [RCV000138946] Chr3:32241..13613818 [GRCh38]
Chr3:73914..13655318 [GRCh37]
Chr3:48914..13630319 [NCBI36]
Chr3:3p26.3-25.1
pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1
pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2
pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
NM_001349232.2(ATG7):c.1400G>C (p.Ser467Thr) single nucleotide variant Inborn genetic diseases [RCV003273231] Chr3:11358533 [GRCh38]
Chr3:11400007 [GRCh37]
Chr3:3p25.3
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3
pathogenic
GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1 copy number loss See cases [RCV000511155] Chr3:61891..12575409 [GRCh37]
Chr3:3p26.3-25.2
pathogenic
NM_001349232.2(ATG7):c.102G>T (p.Lys34Asn) single nucleotide variant Inborn genetic diseases [RCV003248855] Chr3:11298797 [GRCh38]
Chr3:11340271 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1456G>A (p.Val486Ile) single nucleotide variant Inborn genetic diseases [RCV003247611] Chr3:11358589 [GRCh38]
Chr3:11400063 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001128219.3(VGLL4):c.357G>A (p.Met119Ile) single nucleotide variant Inborn genetic diseases [RCV003250272] Chr3:11564935 [GRCh38]
Chr3:11606409 [GRCh37]
Chr3:3p25.3
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3
pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 copy number gain not provided [RCV000682233] Chr3:5173870..16760262 [GRCh37]
Chr3:3p26.1-24.3
pathogenic
GRCh37/hg19 3p25.3(chr3:11410571-11420693)x1 copy number loss not provided [RCV000742233] Chr3:11410571..11420693 [GRCh37]
Chr3:3p25.3
benign
GRCh37/hg19 3p25.3-25.2(chr3:11568144-11801890)x3 copy number gain not provided [RCV000742234] Chr3:11568144..11801890 [GRCh37]
Chr3:3p25.3-25.2
benign
NM_001349232.2(ATG7):c.890-8G>T single nucleotide variant not provided [RCV000950652] Chr3:11340637 [GRCh38]
Chr3:11382111 [GRCh37]
Chr3:3p25.3
benign
NM_001349232.2(ATG7):c.976A>C (p.Lys326Gln) single nucleotide variant not provided [RCV000910270] Chr3:11340731 [GRCh38]
Chr3:11382205 [GRCh37]
Chr3:3p25.3
benign
NM_001349232.2(ATG7):c.1827C>T (p.Asp609=) single nucleotide variant not provided [RCV000930672] Chr3:11364686 [GRCh38]
Chr3:11406160 [GRCh37]
Chr3:3p25.3
benign
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_001349232.2(ATG7):c.712G>A (p.Ala238Thr) single nucleotide variant Inborn genetic diseases [RCV003246143] Chr3:11331373 [GRCh38]
Chr3:11372847 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.873A>G (p.Glu291=) single nucleotide variant not provided [RCV000900913] Chr3:11333077 [GRCh38]
Chr3:11374551 [GRCh37]
Chr3:3p25.3
likely benign
Single allele duplication Neurodevelopmental disorder [RCV000787461] Chr3:9453917..12015126 [GRCh37]
Chr3:3p25.3-25.2
uncertain significance
NM_001349232.2(ATG7):c.1278C>T (p.Pro426=) single nucleotide variant not provided [RCV000897787] Chr3:11348029 [GRCh38]
Chr3:11389503 [GRCh37]
Chr3:3p25.3
likely benign
NM_001349232.2(ATG7):c.1727G>A (p.Arg576His) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 31 [RCV001533545] Chr3:11362856 [GRCh38]
Chr3:11404330 [GRCh37]
Chr3:3p25.3
pathogenic
NM_001349232.2(ATG7):c.759C>T (p.Ala253=) single nucleotide variant not provided [RCV000907963] Chr3:11331420 [GRCh38]
Chr3:11372894 [GRCh37]
Chr3:3p25.3
benign
NM_001349232.2(ATG7):c.14C>T (p.Thr5Met) single nucleotide variant Inborn genetic diseases [RCV003247552] Chr3:11298709 [GRCh38]
Chr3:11340183 [GRCh37]
Chr3:3p25.3
likely benign
NM_001349232.2(ATG7):c.1588G>A (p.Ala530Thr) single nucleotide variant not provided [RCV000900928] Chr3:11360689 [GRCh38]
Chr3:11402163 [GRCh37]
Chr3:3p25.3
likely benign
NM_001349232.2(ATG7):c.890-7C>T single nucleotide variant not provided [RCV000950653] Chr3:11340638 [GRCh38]
Chr3:11382112 [GRCh37]
Chr3:3p25.3
benign
NM_001349232.2(ATG7):c.514T>C (p.Phe172Leu) single nucleotide variant Inborn genetic diseases [RCV003242704] Chr3:11313406 [GRCh38]
Chr3:11354880 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1870C>T (p.His624Tyr) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 31 [RCV001533546] Chr3:11364729 [GRCh38]
Chr3:11406203 [GRCh37]
Chr3:3p25.3
pathogenic
NM_001349232.2(ATG7):c.782A>G (p.Gln261Arg) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 31 [RCV001533547] Chr3:11332986 [GRCh38]
Chr3:11374460 [GRCh37]
Chr3:3p25.3
pathogenic
NM_001349232.2(ATG7):c.1532G>A (p.Gly511Asp) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 31 [RCV001533548] Chr3:11360633 [GRCh38]
Chr3:11402107 [GRCh37]
Chr3:3p25.3
pathogenic
NM_001349232.2(ATG7):c.1535T>C (p.Leu512Pro) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 31 [RCV001533549] Chr3:11360636 [GRCh38]
Chr3:11402110 [GRCh37]
Chr3:3p25.3
pathogenic
NM_001349232.2(ATG7):c.1975C>T (p.Arg659Ter) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 31 [RCV001533550] Chr3:11426822 [GRCh38]
Chr3:11468296 [GRCh37]
Chr3:3p25.3
pathogenic
NM_001349232.2(ATG7):c.2080-2A>G single nucleotide variant Spinocerebellar ataxia, autosomal recessive 31 [RCV001533551] Chr3:11554809 [GRCh38]
Chr3:11596283 [GRCh37]
Chr3:3p25.3
pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2
pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2
pathogenic
GRCh37/hg19 3p25.3-25.2(chr3:10970972-12295919)x1 copy number loss Schizophrenia [RCV001825255] Chr3:10970972..12295919 [GRCh37]
Chr3:3p25.3-25.2
not provided
GRCh37/hg19 3p25.3-25.2(chr3:10922740-12456978)x1 copy number loss not provided [RCV001827612] Chr3:10922740..12456978 [GRCh37]
Chr3:3p25.3-25.2
pathogenic
NM_001349232.2(ATG7):c.1261C>T (p.Leu421Phe) single nucleotide variant Premature ovarian failure [RCV001270192] Chr3:11348012 [GRCh38]
Chr3:11389486 [GRCh37]
Chr3:3p25.3
uncertain significance
GRCh37/hg19 3p25.3(chr3:11363030-11670349)x3 copy number gain not provided [RCV002472594] Chr3:11363030..11670349 [GRCh37]
Chr3:3p25.3
uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1 copy number loss not provided [RCV002473616] Chr3:61892..11679509 [GRCh37]
Chr3:3p26.3-25.3
pathogenic
NM_001349232.2(ATG7):c.449A>G (p.Tyr150Cys) single nucleotide variant Inborn genetic diseases [RCV002989827] Chr3:11313341 [GRCh38]
Chr3:11354815 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1364G>A (p.Arg455His) single nucleotide variant Inborn genetic diseases [RCV002774239] Chr3:11358497 [GRCh38]
Chr3:11399971 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1090G>A (p.Gly364Ser) single nucleotide variant Inborn genetic diseases [RCV002945589] Chr3:11342244 [GRCh38]
Chr3:11383718 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1289C>T (p.Ala430Val) single nucleotide variant Inborn genetic diseases [RCV002753735] Chr3:11358422 [GRCh38]
Chr3:11399896 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.655T>A (p.Phe219Ile) single nucleotide variant Inborn genetic diseases [RCV002778359] Chr3:11315470 [GRCh38]
Chr3:11356944 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001128219.3(VGLL4):c.452C>T (p.Pro151Leu) single nucleotide variant Inborn genetic diseases [RCV002981495] Chr3:11564840 [GRCh38]
Chr3:11606314 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.227C>T (p.Thr76Ile) single nucleotide variant Inborn genetic diseases [RCV002844737] Chr3:11306954 [GRCh38]
Chr3:11348428 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1253C>T (p.Ala418Val) single nucleotide variant Inborn genetic diseases [RCV002739856] Chr3:11348004 [GRCh38]
Chr3:11389478 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala) single nucleotide variant NAFLD1 [RCV002223149]|Spinocerebellar ataxia, autosomal recessive 31 [RCV003227532] Chr3:11358545 [GRCh38]
Chr3:11400019 [GRCh37]
Chr3:3p25.3
pathogenic|likely pathogenic
NM_001349232.2(ATG7):c.1277C>T (p.Pro426Leu) single nucleotide variant NAFLD1 [RCV002223150] Chr3:11348028 [GRCh38]
Chr3:11389502 [GRCh37]
Chr3:3p25.3
pathogenic
GRCh37/hg19 3p25.3-25.2(chr3:10024917-11917048)x1 copy number loss not provided [RCV002472495] Chr3:10024917..11917048 [GRCh37]
Chr3:3p25.3-25.2
pathogenic
NM_001128219.3(VGLL4):c.524C>T (p.Ser175Leu) single nucleotide variant Inborn genetic diseases [RCV002990240] Chr3:11559427 [GRCh38]
Chr3:11600901 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1774G>A (p.Val592Ile) single nucleotide variant Inborn genetic diseases [RCV002945702] Chr3:11362903 [GRCh38]
Chr3:11404377 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.184C>T (p.Arg62Cys) single nucleotide variant Inborn genetic diseases [RCV002729846] Chr3:11299385 [GRCh38]
Chr3:11340859 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1223G>T (p.Gly408Val) single nucleotide variant Inborn genetic diseases [RCV002911931] Chr3:11347974 [GRCh38]
Chr3:11389448 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1566C>G (p.Asp522Glu) single nucleotide variant Inborn genetic diseases [RCV002850501] Chr3:11360667 [GRCh38]
Chr3:11402141 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001128219.3(VGLL4):c.442G>A (p.Ala148Thr) single nucleotide variant Inborn genetic diseases [RCV002872932] Chr3:11564850 [GRCh38]
Chr3:11606324 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001128219.3(VGLL4):c.322C>T (p.Arg108Cys) single nucleotide variant Inborn genetic diseases [RCV002985800] Chr3:11564970 [GRCh38]
Chr3:11606444 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1976G>A (p.Arg659Gln) single nucleotide variant Inborn genetic diseases [RCV002983949] Chr3:11426823 [GRCh38]
Chr3:11468297 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1363C>T (p.Arg455Cys) single nucleotide variant Inborn genetic diseases [RCV002789594] Chr3:11358496 [GRCh38]
Chr3:11399970 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.224C>A (p.Pro75His) single nucleotide variant Inborn genetic diseases [RCV002940826] Chr3:11306951 [GRCh38]
Chr3:11348425 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.83A>T (p.His28Leu) single nucleotide variant Inborn genetic diseases [RCV002793066] Chr3:11298778 [GRCh38]
Chr3:11340252 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1226G>A (p.Gly409Asp) single nucleotide variant Inborn genetic diseases [RCV002719254] Chr3:11347977 [GRCh38]
Chr3:11389451 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.886C>G (p.Pro296Ala) single nucleotide variant Inborn genetic diseases [RCV002940008] Chr3:11333090 [GRCh38]
Chr3:11374564 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1301A>G (p.Asn434Ser) single nucleotide variant Inborn genetic diseases [RCV002831702] Chr3:11358434 [GRCh38]
Chr3:11399908 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1661A>G (p.Asn554Ser) single nucleotide variant Inborn genetic diseases [RCV002878235] Chr3:11360762 [GRCh38]
Chr3:11402236 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1625A>G (p.Asn542Ser) single nucleotide variant Inborn genetic diseases [RCV002673655] Chr3:11360726 [GRCh38]
Chr3:11402200 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001349232.2(ATG7):c.1343G>A (p.Ser448Asn) single nucleotide variant Inborn genetic diseases [RCV002921034] Chr3:11358476 [GRCh38]
Chr3:11399950 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001128219.3(VGLL4):c.383C>T (p.Thr128Ile) single nucleotide variant Inborn genetic diseases [RCV002813873] Chr3:11564909 [GRCh38]
Chr3:11606383 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001128219.3(VGLL4):c.310C>T (p.Arg104Trp) single nucleotide variant Inborn genetic diseases [RCV003179490] Chr3:11564982 [GRCh38]
Chr3:11606456 [GRCh37]
Chr3:3p25.3
uncertain significance
NM_001128219.3(VGLL4):c.337C>T (p.Arg113Cys) single nucleotide variant Inborn genetic diseases [RCV003207091] Chr3:11564955 [GRCh38]
Chr3:11606429 [GRCh37]
Chr3:3p25.3
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR199A1hsa-miR-199a-5pOncomiRDBexternal_infoNANA22713463
MIR375hsa-miR-375OncomiRDBexternal_infoNANA22504094

Predicted Target Of
Summary Value
Count of predictions:5340
Count of miRNA genes:1363
Interacting mature miRNAs:1793
Transcripts:ENST00000354449, ENST00000354956, ENST00000414717, ENST00000418682, ENST00000419112, ENST00000423116, ENST00000424071, ENST00000427759, ENST00000434066, ENST00000435760, ENST00000444619, ENST00000446110, ENST00000446450, ENST00000451513, ENST00000451830, ENST00000460291, ENST00000460444, ENST00000461278, ENST00000464282, ENST00000467121, ENST00000469654, ENST00000470474, ENST00000478638, ENST00000488924
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D3S1263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,517,252 - 11,517,482UniSTSGRCh37
GRCh37311,517,278 - 11,517,478UniSTSGRCh37
Build 36311,492,278 - 11,492,478RGDNCBI36
Celera311,452,673 - 11,452,875RGD
Celera311,452,647 - 11,452,879UniSTS
Cytogenetic Map3p25.3UniSTS
HuRef311,450,923 - 11,451,173UniSTS
HuRef311,450,949 - 11,451,169UniSTS
Marshfield Genetic Map336.1RGD
Marshfield Genetic Map336.1UniSTS
Genethon Genetic Map330.4UniSTS
TNG Radiation Hybrid Map36944.0UniSTS
deCODE Assembly Map329.62UniSTS
Stanford-G3 RH Map3508.0UniSTS
GeneMap99-GB4 RH Map352.79UniSTS
Whitehead-RH Map358.6UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3143.8UniSTS
GeneMap99-G3 RH Map3508.0UniSTS
D3S3319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,556,197 - 11,556,322UniSTSGRCh37
Build 36311,531,197 - 11,531,322RGDNCBI36
Celera311,491,608 - 11,491,733RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,489,848 - 11,489,973UniSTS
Whitehead-RH Map358.6UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3157.3UniSTS
RH15949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,597,593 - 11,597,730UniSTSGRCh37
Build 36311,572,593 - 11,572,730RGDNCBI36
Celera311,532,998 - 11,533,135RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,531,140 - 11,531,277UniSTS
GeneMap99-GB4 RH Map350.67UniSTS
NCBI RH Map3166.8UniSTS
D3S3123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,495,647 - 11,495,897UniSTSGRCh37
Build 36311,470,647 - 11,470,897RGDNCBI36
Celera311,431,039 - 11,431,289RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,429,320 - 11,429,570UniSTS
Whitehead-YAC Contig Map3 UniSTS
RH98571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,488,193 - 11,488,323UniSTSGRCh37
Build 36311,463,193 - 11,463,323RGDNCBI36
Celera311,423,587 - 11,423,717RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,421,867 - 11,421,997UniSTS
GeneMap99-GB4 RH Map352.79UniSTS
RH25345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,597,726 - 11,597,968UniSTSGRCh37
Build 36311,572,726 - 11,572,968RGDNCBI36
Celera311,533,131 - 11,533,373RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,531,273 - 11,531,515UniSTS
D3S3242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,330,600 - 11,330,706UniSTSGRCh37
Build 36311,305,600 - 11,305,706RGDNCBI36
Celera311,266,032 - 11,266,138RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,264,711 - 11,264,817UniSTS
SHGC-76706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,598,868 - 11,598,998UniSTSGRCh37
Build 36311,573,868 - 11,573,998RGDNCBI36
Celera311,534,273 - 11,534,403RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,532,415 - 11,532,545UniSTS
TNG Radiation Hybrid Map36990.0UniSTS
GeneMap99-GB4 RH Map350.67UniSTS
NCBI RH Map3165.6UniSTS
SHGC-57938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,476,225 - 11,476,392UniSTSGRCh37
Build 36311,451,225 - 11,451,392RGDNCBI36
Celera311,411,610 - 11,411,777RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,409,888 - 11,410,055UniSTS
TNG Radiation Hybrid Map36915.0UniSTS
SHGC-76717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,599,342 - 11,599,524UniSTSGRCh37
Build 36311,574,342 - 11,574,524RGDNCBI36
Celera311,534,747 - 11,534,929RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,532,889 - 11,533,071UniSTS
TNG Radiation Hybrid Map37002.0UniSTS
GeneMap99-GB4 RH Map352.79UniSTS
NCBI RH Map3132.9UniSTS
D3S3429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,484,576 - 11,484,711UniSTSGRCh37
Build 36311,459,576 - 11,459,711RGDNCBI36
Celera311,419,969 - 11,420,104RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,418,249 - 11,418,384UniSTS
D3S4030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,484,430 - 11,484,646UniSTSGRCh37
Build 36311,459,430 - 11,459,646RGDNCBI36
Celera311,419,823 - 11,420,039RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,418,103 - 11,418,319UniSTS
STS-H83694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,519,937 - 11,520,102UniSTSGRCh37
Build 36311,494,937 - 11,495,102RGDNCBI36
Celera311,455,334 - 11,455,499RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,453,629 - 11,453,794UniSTS
GeneMap99-GB4 RH Map356.48UniSTS
NCBI RH Map3143.8UniSTS
SHGC-35171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,520,023 - 11,520,149UniSTSGRCh37
Build 36311,495,023 - 11,495,149RGDNCBI36
Celera311,455,420 - 11,455,546RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,453,715 - 11,453,841UniSTS
Stanford-G3 RH Map3517.0UniSTS
GeneMap99-GB4 RH Map352.79UniSTS
Whitehead-RH Map358.6UniSTS
NCBI RH Map3132.9UniSTS
GeneMap99-G3 RH Map3517.0UniSTS
D3S3828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,597,586 - 11,597,693UniSTSGRCh37
Build 36311,572,586 - 11,572,693RGDNCBI36
Celera311,532,991 - 11,533,098RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,531,133 - 11,531,240UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S3454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,324,055 - 11,324,214UniSTSGRCh37
Build 36311,299,055 - 11,299,214RGDNCBI36
Celera311,259,493 - 11,259,652RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,258,173 - 11,258,332UniSTS
D3S3137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37311,356,535 - 11,356,707UniSTSGRCh37
Build 36311,331,535 - 11,331,707RGDNCBI36
Celera311,291,956 - 11,292,128RGD
Cytogenetic Map3p25.3UniSTS
HuRef311,290,203 - 11,290,375UniSTS
D3S1263  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
TNG Radiation Hybrid Map36944.0UniSTS
Stanford-G3 RH Map3508.0UniSTS
NCBI RH Map3143.8UniSTS
GeneMap99-G3 RH Map3508.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 94 868 51 28 750 13 1770 45 676 57 645 379 19 286 1253 3
Low 2340 2096 1671 594 1199 450 2585 2130 3042 361 804 1229 152 918 1535 1 1
Below cutoff 1 22 4 1 1 2 19 13 1 6 3 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001136031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001739980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_940363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC020750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC083855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF094516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL122075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP373819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA177126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF570275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000354449   ⟹   ENSP00000346437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,416 - 11,557,665 (+)Ensembl
RefSeq Acc Id: ENST00000354956   ⟹   ENSP00000347042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,416 - 11,555,083 (+)Ensembl
RefSeq Acc Id: ENST00000414717   ⟹   ENSP00000407340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,364,657 - 11,446,936 (+)Ensembl
RefSeq Acc Id: ENST00000418682   ⟹   ENSP00000389012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,406 - 11,315,482 (+)Ensembl
RefSeq Acc Id: ENST00000419112   ⟹   ENSP00000408303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,423 - 11,306,995 (+)Ensembl
RefSeq Acc Id: ENST00000423116   ⟹   ENSP00000416644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,277,219 - 11,309,028 (+)Ensembl
RefSeq Acc Id: ENST00000424071   ⟹   ENSP00000409844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,309,009 - 11,358,610 (+)Ensembl
RefSeq Acc Id: ENST00000427759   ⟹   ENSP00000388295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,364,658 - 11,477,307 (+)Ensembl
RefSeq Acc Id: ENST00000434066   ⟹   ENSP00000393075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,313,343 - 11,342,279 (+)Ensembl
RefSeq Acc Id: ENST00000435760   ⟹   ENSP00000390547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,397 - 11,555,068 (+)Ensembl
RefSeq Acc Id: ENST00000444619   ⟹   ENSP00000389996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,403 - 11,307,008 (+)Ensembl
RefSeq Acc Id: ENST00000446110   ⟹   ENSP00000406398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,364,659 - 11,510,339 (+)Ensembl
RefSeq Acc Id: ENST00000446450   ⟹   ENSP00000412580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,416 - 11,554,988 (+)Ensembl
RefSeq Acc Id: ENST00000451513   ⟹   ENSP00000415223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,309 - 11,313,420 (+)Ensembl
RefSeq Acc Id: ENST00000451830   ⟹   ENSP00000411880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,348 - 11,315,388 (+)Ensembl
RefSeq Acc Id: ENST00000460291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,342,200 - 11,348,747 (+)Ensembl
RefSeq Acc Id: ENST00000460444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,375 - 11,304,667 (+)Ensembl
RefSeq Acc Id: ENST00000461278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,332,713 - 11,342,207 (+)Ensembl
RefSeq Acc Id: ENST00000464282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,308,475 - 11,313,396 (+)Ensembl
RefSeq Acc Id: ENST00000467121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,360,581 - 11,363,096 (+)Ensembl
RefSeq Acc Id: ENST00000469654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,443 - 11,304,549 (+)Ensembl
RefSeq Acc Id: ENST00000470474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,382 - 11,299,170 (+)Ensembl
RefSeq Acc Id: ENST00000478638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,331,402 - 11,347,971 (+)Ensembl
RefSeq Acc Id: ENST00000488924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,308,442 - 11,331,393 (+)Ensembl
RefSeq Acc Id: ENST00000685771   ⟹   ENSP00000509725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,397 - 11,555,014 (+)Ensembl
RefSeq Acc Id: ENST00000693202   ⟹   ENSP00000510336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl311,272,397 - 11,557,665 (+)Ensembl
RefSeq Acc Id: NM_001136031   ⟹   NP_001129503
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,557,665 (+)NCBI
GRCh37311,314,010 - 11,599,139 (+)ENTREZGENE
HuRef311,248,262 - 11,532,686 (+)ENTREZGENE
CHM1_1311,264,079 - 11,549,266 (+)NCBI
T2T-CHM13v2.0311,267,348 - 11,552,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001144912   ⟹   NP_001138384
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,557,665 (+)NCBI
GRCh37311,314,010 - 11,599,139 (+)ENTREZGENE
HuRef311,248,262 - 11,532,686 (+)ENTREZGENE
CHM1_1311,264,079 - 11,549,266 (+)NCBI
T2T-CHM13v2.0311,267,348 - 11,552,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349232   ⟹   NP_001336161
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,557,665 (+)NCBI
T2T-CHM13v2.0311,267,348 - 11,552,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349233   ⟹   NP_001336162
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,557,665 (+)NCBI
T2T-CHM13v2.0311,267,348 - 11,552,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349234   ⟹   NP_001336163
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,557,665 (+)NCBI
T2T-CHM13v2.0311,267,348 - 11,552,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349235   ⟹   NP_001336164
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,557,665 (+)NCBI
T2T-CHM13v2.0311,267,348 - 11,552,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349236   ⟹   NP_001336165
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,557,665 (+)NCBI
T2T-CHM13v2.0311,267,348 - 11,552,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349237   ⟹   NP_001336166
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,557,665 (+)NCBI
T2T-CHM13v2.0311,267,348 - 11,552,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349238   ⟹   NP_001336167
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,564,652 (+)NCBI
T2T-CHM13v2.0311,267,348 - 11,559,958 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006395   ⟹   NP_006386
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,557,665 (+)NCBI
GRCh37311,314,010 - 11,599,139 (+)ENTREZGENE
Build 36311,315,160 - 11,571,557 (+)NCBI Archive
HuRef311,248,262 - 11,532,686 (+)ENTREZGENE
CHM1_1311,264,079 - 11,549,266 (+)NCBI
T2T-CHM13v2.0311,267,348 - 11,552,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712931   ⟹   XP_006712994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,519,534 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712932   ⟹   XP_006712995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,519,534 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533277   ⟹   XP_011531579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,519,534 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005542   ⟹   XP_016861031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,288,646 - 11,519,534 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005543   ⟹   XP_016861032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,519,534 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005548   ⟹   XP_016861037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,527,012 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005550   ⟹   XP_016861039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,434,622 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005551   ⟹   XP_016861040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,526,927 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453312   ⟹   XP_024309080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,434,622 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047447293   ⟹   XP_047303249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,462,861 (+)NCBI
RefSeq Acc Id: XM_047447294   ⟹   XP_047303250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,477,308 (+)NCBI
RefSeq Acc Id: XM_047447295   ⟹   XP_047303251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,274,214 - 11,519,534 (+)NCBI
RefSeq Acc Id: XM_047447296   ⟹   XP_047303252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,519,534 (+)NCBI
RefSeq Acc Id: XM_047447297   ⟹   XP_047303253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,274,214 - 11,519,534 (+)NCBI
RefSeq Acc Id: XM_047447298   ⟹   XP_047303254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,274,214 - 11,519,534 (+)NCBI
RefSeq Acc Id: XM_047447299   ⟹   XP_047303255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,274,214 - 11,519,534 (+)NCBI
RefSeq Acc Id: XM_047447300   ⟹   XP_047303256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,446,936 (+)NCBI
RefSeq Acc Id: XM_047447301   ⟹   XP_047303257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,519,534 (+)NCBI
RefSeq Acc Id: XM_047447302   ⟹   XP_047303258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,477,308 (+)NCBI
RefSeq Acc Id: XM_047447303   ⟹   XP_047303259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,519,534 (+)NCBI
RefSeq Acc Id: XM_047447304   ⟹   XP_047303260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,526,927 (+)NCBI
RefSeq Acc Id: XM_047447305   ⟹   XP_047303261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,477,308 (+)NCBI
RefSeq Acc Id: XM_047447306   ⟹   XP_047303262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,446,936 (+)NCBI
RefSeq Acc Id: XM_047447307   ⟹   XP_047303263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,304,499 - 11,519,534 (+)NCBI
RefSeq Acc Id: XM_047447308   ⟹   XP_047303264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,304,503 - 11,557,665 (+)NCBI
RefSeq Acc Id: XM_047447309   ⟹   XP_047303265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,315,411 - 11,519,534 (+)NCBI
RefSeq Acc Id: XM_054344938   ⟹   XP_054200913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,457,575 (+)NCBI
RefSeq Acc Id: XM_054344939   ⟹   XP_054200914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,514,856 (+)NCBI
RefSeq Acc Id: XM_054344940   ⟹   XP_054200915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,433,740 (+)NCBI
RefSeq Acc Id: XM_054344941   ⟹   XP_054200916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,378 - 11,457,575 (+)NCBI
RefSeq Acc Id: XM_054344942   ⟹   XP_054200917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,457,575 (+)NCBI
RefSeq Acc Id: XM_054344943   ⟹   XP_054200918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,457,575 (+)NCBI
RefSeq Acc Id: XM_054344944   ⟹   XP_054200919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,275,947 - 11,457,575 (+)NCBI
RefSeq Acc Id: XM_054344945   ⟹   XP_054200920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,283,593 - 11,457,575 (+)NCBI
RefSeq Acc Id: XM_054344946   ⟹   XP_054200921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,522,331 (+)NCBI
RefSeq Acc Id: XM_054344947   ⟹   XP_054200922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,457,577 (+)NCBI
RefSeq Acc Id: XM_054344948   ⟹   XP_054200923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,471,978 (+)NCBI
RefSeq Acc Id: XM_054344949   ⟹   XP_054200924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,441,640 (+)NCBI
RefSeq Acc Id: XM_054344950   ⟹   XP_054200925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,457,577 (+)NCBI
RefSeq Acc Id: XM_054344951   ⟹   XP_054200926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,433,742 (+)NCBI
RefSeq Acc Id: XM_054344952   ⟹   XP_054200927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,522,246 (+)NCBI
RefSeq Acc Id: XM_054344953   ⟹   XP_054200928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,471,978 (+)NCBI
RefSeq Acc Id: XM_054344954   ⟹   XP_054200929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,514,856 (+)NCBI
RefSeq Acc Id: XM_054344955   ⟹   XP_054200930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,522,246 (+)NCBI
RefSeq Acc Id: XM_054344956   ⟹   XP_054200931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,471,978 (+)NCBI
RefSeq Acc Id: XM_054344957   ⟹   XP_054200932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,441,640 (+)NCBI
RefSeq Acc Id: XM_054344958   ⟹   XP_054200933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,298,826 - 11,457,588 (+)NCBI
RefSeq Acc Id: XM_054344959   ⟹   XP_054200934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,298,836 - 11,552,969 (+)NCBI
RefSeq Acc Id: XM_054344960   ⟹   XP_054200935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,310,122 - 11,457,588 (+)NCBI
RefSeq Acc Id: XR_007095622
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,576,353 (+)NCBI
RefSeq Acc Id: XR_007095623
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,576,353 (+)NCBI
RefSeq Acc Id: XR_008486628
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,571,596 (+)NCBI
RefSeq Acc Id: XR_008486629
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0311,267,348 - 11,571,596 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001129503 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138384 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336161 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336162 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336163 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336164 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336165 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336166 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336167 (Get FASTA)   NCBI Sequence Viewer  
  NP_006386 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712994 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712995 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531579 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861031 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861032 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861037 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861039 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861040 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309080 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303249 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303250 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303251 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303252 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303253 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303254 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303255 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303256 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303257 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303258 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303259 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303260 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303261 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303262 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303263 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303264 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303265 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200913 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200914 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200915 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200916 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200917 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200918 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200919 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200920 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200921 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200922 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200923 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200924 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200925 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200926 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200927 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200928 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200929 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200930 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200931 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200932 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200933 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200934 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200935 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC69630 (Get FASTA)   NCBI Sequence Viewer  
  AAH00091 (Get FASTA)   NCBI Sequence Viewer  
  BAG37104 (Get FASTA)   NCBI Sequence Viewer  
  BAG52088 (Get FASTA)   NCBI Sequence Viewer  
  BAG60963 (Get FASTA)   NCBI Sequence Viewer  
  BAG64682 (Get FASTA)   NCBI Sequence Viewer  
  CAB59250 (Get FASTA)   NCBI Sequence Viewer  
  CAF86536 (Get FASTA)   NCBI Sequence Viewer  
  EAW64093 (Get FASTA)   NCBI Sequence Viewer  
  EAW64094 (Get FASTA)   NCBI Sequence Viewer  
  EAW64095 (Get FASTA)   NCBI Sequence Viewer  
  EAW64096 (Get FASTA)   NCBI Sequence Viewer  
  EAW64097 (Get FASTA)   NCBI Sequence Viewer  
  O95352 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006386   ⟸   NM_006395
- Peptide Label: isoform a
- UniProtKB: Q9BWP2 (UniProtKB/Swiss-Prot),   Q7L8L0 (UniProtKB/Swiss-Prot),   E9PB95 (UniProtKB/Swiss-Prot),   B4E170 (UniProtKB/Swiss-Prot),   Q9UFH4 (UniProtKB/Swiss-Prot),   O95352 (UniProtKB/Swiss-Prot),   B3KQM6 (UniProtKB/TrEMBL),   B2RB57 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129503   ⟸   NM_001136031
- Peptide Label: isoform b
- UniProtKB: O95352 (UniProtKB/Swiss-Prot),   B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138384   ⟸   NM_001144912
- Peptide Label: isoform c
- UniProtKB: O95352 (UniProtKB/Swiss-Prot),   B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712994   ⟸   XM_006712931
- Peptide Label: isoform X1
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712995   ⟸   XM_006712932
- Peptide Label: isoform X1
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531579   ⟸   XM_011533277
- Peptide Label: isoform X1
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861037   ⟸   XM_017005548
- Peptide Label: isoform X4
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861040   ⟸   XM_017005551
- Peptide Label: isoform X10
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861032   ⟸   XM_017005543
- Peptide Label: isoform X7
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861039   ⟸   XM_017005550
- Peptide Label: isoform X9
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861031   ⟸   XM_017005542
- Peptide Label: isoform X1
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336167   ⟸   NM_001349238
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: NP_001336161   ⟸   NM_001349232
- Peptide Label: isoform a
- UniProtKB: Q9BWP2 (UniProtKB/Swiss-Prot),   Q7L8L0 (UniProtKB/Swiss-Prot),   O95352 (UniProtKB/Swiss-Prot),   E9PB95 (UniProtKB/Swiss-Prot),   B4E170 (UniProtKB/Swiss-Prot),   Q9UFH4 (UniProtKB/Swiss-Prot),   B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336162   ⟸   NM_001349233
- Peptide Label: isoform a
- UniProtKB: Q9BWP2 (UniProtKB/Swiss-Prot),   Q7L8L0 (UniProtKB/Swiss-Prot),   O95352 (UniProtKB/Swiss-Prot),   E9PB95 (UniProtKB/Swiss-Prot),   B4E170 (UniProtKB/Swiss-Prot),   Q9UFH4 (UniProtKB/Swiss-Prot),   B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336164   ⟸   NM_001349235
- Peptide Label: isoform a
- UniProtKB: Q9BWP2 (UniProtKB/Swiss-Prot),   Q7L8L0 (UniProtKB/Swiss-Prot),   O95352 (UniProtKB/Swiss-Prot),   E9PB95 (UniProtKB/Swiss-Prot),   B4E170 (UniProtKB/Swiss-Prot),   Q9UFH4 (UniProtKB/Swiss-Prot),   B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336163   ⟸   NM_001349234
- Peptide Label: isoform a
- UniProtKB: Q9BWP2 (UniProtKB/Swiss-Prot),   Q7L8L0 (UniProtKB/Swiss-Prot),   O95352 (UniProtKB/Swiss-Prot),   E9PB95 (UniProtKB/Swiss-Prot),   B4E170 (UniProtKB/Swiss-Prot),   Q9UFH4 (UniProtKB/Swiss-Prot),   B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336166   ⟸   NM_001349237
- Peptide Label: isoform e
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336165   ⟸   NM_001349236
- Peptide Label: isoform d
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309080   ⟸   XM_024453312
- Peptide Label: isoform X2
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000416644   ⟸   ENST00000423116
RefSeq Acc Id: ENSP00000409844   ⟸   ENST00000424071
RefSeq Acc Id: ENSP00000411880   ⟸   ENST00000451830
RefSeq Acc Id: ENSP00000415223   ⟸   ENST00000451513
RefSeq Acc Id: ENSP00000388295   ⟸   ENST00000427759
RefSeq Acc Id: ENSP00000407340   ⟸   ENST00000414717
RefSeq Acc Id: ENSP00000389012   ⟸   ENST00000418682
RefSeq Acc Id: ENSP00000408303   ⟸   ENST00000419112
RefSeq Acc Id: ENSP00000389996   ⟸   ENST00000444619
RefSeq Acc Id: ENSP00000412580   ⟸   ENST00000446450
RefSeq Acc Id: ENSP00000406398   ⟸   ENST00000446110
RefSeq Acc Id: ENSP00000346437   ⟸   ENST00000354449
RefSeq Acc Id: ENSP00000347042   ⟸   ENST00000354956
RefSeq Acc Id: ENSP00000393075   ⟸   ENST00000434066
RefSeq Acc Id: ENSP00000390547   ⟸   ENST00000435760
RefSeq Acc Id: ENSP00000509725   ⟸   ENST00000685771
RefSeq Acc Id: ENSP00000510336   ⟸   ENST00000693202
RefSeq Acc Id: XP_047303260   ⟸   XM_047447304
- Peptide Label: isoform X13
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303252   ⟸   XM_047447296
- Peptide Label: isoform X1
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303257   ⟸   XM_047447301
- Peptide Label: isoform X8
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303259   ⟸   XM_047447303
- Peptide Label: isoform X12
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303250   ⟸   XM_047447294
- Peptide Label: isoform X5
- UniProtKB: A0A024R2E9 (UniProtKB/TrEMBL),   B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303258   ⟸   XM_047447302
- Peptide Label: isoform X11
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303261   ⟸   XM_047447305
- Peptide Label: isoform X14
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303249   ⟸   XM_047447293
- Peptide Label: isoform X3
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303256   ⟸   XM_047447300
- Peptide Label: isoform X6
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303262   ⟸   XM_047447306
- Peptide Label: isoform X15
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303254   ⟸   XM_047447298
- Peptide Label: isoform X1
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303251   ⟸   XM_047447295
- Peptide Label: isoform X1
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303255   ⟸   XM_047447299
- Peptide Label: isoform X1
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303253   ⟸   XM_047447297
- Peptide Label: isoform X1
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303263   ⟸   XM_047447307
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047303264   ⟸   XM_047447308
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047303265   ⟸   XM_047447309
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054200921   ⟸   XM_054344946
- Peptide Label: isoform X4
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200927   ⟸   XM_054344952
- Peptide Label: isoform X10
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200930   ⟸   XM_054344955
- Peptide Label: isoform X13
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200914   ⟸   XM_054344939
- Peptide Label: isoform X1
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200929   ⟸   XM_054344954
- Peptide Label: isoform X12
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200923   ⟸   XM_054344948
- Peptide Label: isoform X5
- UniProtKB: A0A024R2E9 (UniProtKB/TrEMBL),   B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200928   ⟸   XM_054344953
- Peptide Label: isoform X11
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200931   ⟸   XM_054344956
- Peptide Label: isoform X14
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200922   ⟸   XM_054344947
- Peptide Label: isoform X20
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200925   ⟸   XM_054344950
- Peptide Label: isoform X21
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200917   ⟸   XM_054344942
- Peptide Label: isoform X19
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200918   ⟸   XM_054344943
- Peptide Label: isoform X19
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200913   ⟸   XM_054344938
- Peptide Label: isoform X19
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200924   ⟸   XM_054344949
- Peptide Label: isoform X6
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200932   ⟸   XM_054344957
- Peptide Label: isoform X15
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200926   ⟸   XM_054344951
- Peptide Label: isoform X9
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200915   ⟸   XM_054344940
- Peptide Label: isoform X2
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200916   ⟸   XM_054344941
- Peptide Label: isoform X19
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200919   ⟸   XM_054344944
- Peptide Label: isoform X19
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200920   ⟸   XM_054344945
- Peptide Label: isoform X19
- UniProtKB: B2RB57 (UniProtKB/TrEMBL),   B3KQM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200933   ⟸   XM_054344958
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054200934   ⟸   XM_054344959
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054200935   ⟸   XM_054344960
- Peptide Label: isoform X23
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95352-F1-model_v2 AlphaFold O95352 1-703 view protein structure

Promoters
RGD ID:6863588
Promoter ID:EPDNEW_H4959
Type:initiation region
Name:ATG7_1
Description:autophagy related 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4956  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38311,272,397 - 11,272,457EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16935 AgrOrtholog
COSMIC ATG7 COSMIC
Ensembl Genes ENSG00000197548 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000346437 ENTREZGENE
  ENSP00000346437.3 UniProtKB/Swiss-Prot
  ENSP00000347042 ENTREZGENE
  ENSP00000347042.5 UniProtKB/Swiss-Prot
  ENSP00000388295.1 UniProtKB/TrEMBL
  ENSP00000389012.1 UniProtKB/TrEMBL
  ENSP00000389996.1 UniProtKB/TrEMBL
  ENSP00000390547.2 UniProtKB/TrEMBL
  ENSP00000393075.2 UniProtKB/TrEMBL
  ENSP00000406398.1 UniProtKB/TrEMBL
  ENSP00000407340.1 UniProtKB/TrEMBL
  ENSP00000408303.1 UniProtKB/TrEMBL
  ENSP00000409844.1 UniProtKB/TrEMBL
  ENSP00000411880.1 UniProtKB/TrEMBL
  ENSP00000412580 ENTREZGENE
  ENSP00000412580.2 UniProtKB/Swiss-Prot
  ENSP00000415223.1 UniProtKB/TrEMBL
  ENSP00000416644.1 UniProtKB/TrEMBL
  ENSP00000509725 ENTREZGENE
  ENSP00000509725.1 UniProtKB/Swiss-Prot
  ENSP00000510336 ENTREZGENE
  ENSP00000510336.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000354449 ENTREZGENE
  ENST00000354449.7 UniProtKB/Swiss-Prot
  ENST00000354956 ENTREZGENE
  ENST00000354956.9 UniProtKB/Swiss-Prot
  ENST00000414717.5 UniProtKB/TrEMBL
  ENST00000418682.5 UniProtKB/TrEMBL
  ENST00000419112.5 UniProtKB/TrEMBL
  ENST00000423116.1 UniProtKB/TrEMBL
  ENST00000424071.5 UniProtKB/TrEMBL
  ENST00000427759.5 UniProtKB/TrEMBL
  ENST00000434066.6 UniProtKB/TrEMBL
  ENST00000435760.6 UniProtKB/TrEMBL
  ENST00000444619.5 UniProtKB/TrEMBL
  ENST00000446110.1 UniProtKB/TrEMBL
  ENST00000446450 ENTREZGENE
  ENST00000446450.6 UniProtKB/Swiss-Prot
  ENST00000451513.5 UniProtKB/TrEMBL
  ENST00000451830.5 UniProtKB/TrEMBL
  ENST00000685771 ENTREZGENE
  ENST00000685771.1 UniProtKB/Swiss-Prot
  ENST00000693202 ENTREZGENE
  ENST00000693202.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.140.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.140.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197548 GTEx
HGNC ID HGNC:16935 ENTREZGENE
Human Proteome Map ATG7 Human Proteome Map
InterPro Atg7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Atg7_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Atg7_N_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Atg7_N_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ThiF/MoeB/HesA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ThiF_NAD_FAD-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-activating_enz UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10533 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10533 ENTREZGENE
OMIM 608760 OMIM
PANTHER PTHR10953 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN-LIKE MODIFIER-ACTIVATING ENZYME ATG7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ATG7_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ThiF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134983397 PharmGKB
Superfamily-SCOP SSF69572 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R2E9 ENTREZGENE, UniProtKB/TrEMBL
  ATG7_HUMAN UniProtKB/Swiss-Prot
  B2RB57 ENTREZGENE, UniProtKB/TrEMBL
  B3KQM6 ENTREZGENE, UniProtKB/TrEMBL
  B4E170 ENTREZGENE
  C9J415_HUMAN UniProtKB/TrEMBL
  C9JE55_HUMAN UniProtKB/TrEMBL
  C9JFF4_HUMAN UniProtKB/TrEMBL
  C9JGL2_HUMAN UniProtKB/TrEMBL
  C9JKA3_HUMAN UniProtKB/TrEMBL
  C9JNU2_HUMAN UniProtKB/TrEMBL
  E9PB95 ENTREZGENE
  H7BZ92_HUMAN UniProtKB/TrEMBL
  H7C059_HUMAN UniProtKB/TrEMBL
  H7C2J8_HUMAN UniProtKB/TrEMBL
  H7C2R3_HUMAN UniProtKB/TrEMBL
  H7C369_HUMAN UniProtKB/TrEMBL
  O95352 ENTREZGENE
  Q7L8L0 ENTREZGENE
  Q9BWP2 ENTREZGENE
  Q9UFH4 ENTREZGENE
UniProt Secondary B4E170 UniProtKB/Swiss-Prot
  E9PB95 UniProtKB/Swiss-Prot
  F8WDY9 UniProtKB/TrEMBL
  Q7L8L0 UniProtKB/Swiss-Prot
  Q9BWP2 UniProtKB/Swiss-Prot
  Q9UFH4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-04-14 ATG7  autophagy related 7  LOC105376952  uncharacterized LOC105376952  Data Merged 737654 PROVISIONAL
2012-06-12 ATG7  autophagy related 7  ATG7  ATG7 autophagy related 7 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-08-17 ATG7  ATG7 autophagy related 7 homolog (S. cerevisiae)  ATG7  ATG7 autophagy related 7 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED