AutismKB 2.0

Annotation Detail for ATP6V0C


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Basic Information Top
Gene Symbol:ATP6V0C ( ATP6C,ATP6L,ATPL,VATL,VPPC,Vma3 )
Gene Full Name: ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c
Band: 16p13.3
Quick LinksEntrez ID:527; OMIM: 108745; Uniprot ID:VATL_HUMAN; ENSEMBL ID: ENSG00000185883; HGNC ID: 855
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001694
  • Location:chr16 2503953-2510218
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM10847GSE19485 2499676 2500534 858 3849
NFkBII GM12878GSE19485 2499432 2500755 1323 3860
PHF8 HeLaGSE20725 2503182 2504678 1496 24
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 2509996 2510561 565 60
VDR GM10855-UnstimGSE22484 2509638 2510951 1313 76
p130 shRbQuiescentGSE19898 2510051 2510460 409 37
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2508366 2508951 585 0
CTCF G2GSE9613 2509257 2510517 1260 0
H3ac HepG2E 2504649 2506014 1365 0
PHF8 HeLaGSE20725 2509371 2510976 1605 0
PHF8 Hs68plusFBSGSE20725 2503379 2504810 1431 0
USF1 HepG2E 2504722 2506074 1352 0
USF1 HepG2E 2506420 2507686 1266 0
USF1 HepG2E 2508070 2510332 2262 0
USF2 HepG2E 2507184 2507686 502 0
USF2 HepG2E 2509795 2510291 496 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018