AutismKB 2.0

Annotation Detail for ATP6V1A


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Basic Information Top
Gene Symbol:ATP6V1A ( ATP6A1,ATP6V1A1,HO68,VA68,VPP2,Vma1 )
Gene Full Name: ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
Band: 3q13.31
Quick LinksEntrez ID:523; OMIM: 607027; Uniprot ID:VATA_HUMAN; ENSEMBL ID: ENSG00000114573; HGNC ID: 851
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
374Phosphotyrosine (By similarity).
384Phosphoserine (By similarity).
Location(AA) Modifications Resource
384Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
20Phosphotyrosine(Jak)HMM predict
111Phosphoserine(CK1)HMM predict
111Phosphoserine(ATM)HMM predict
264Phosphoserine(CK1)HMM predict
266Phosphotyrosine(INSR)HMM predict
314N-linkedHMM predict
317N-linkedHMM predict
403Phosphoserine(CK1)HMM predict
418Phosphoserine(ATM)HMM predict
464SulfotyrosineHMM predict
465Phosphotyrosine(Jak)HMM predict
465Phosphotyrosine(Syk)HMM predict
525Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001690
  • Location:chr3 114948597-115013590
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 114948002 114948487 485 353
USF2 HepG2E 114947869 114948564 695 381
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 115026396 115026836 440 13026
Myc hESGSE17917 115014188 115014464 276 736
NFkBII GM12878GSE19485 115026084 115027508 1424 13206
Oct1 HelaGSE14283 115023927 115023969 42 10358
Oct1 HelaGSE14283 115024098 115024137 39 10527
RARA MCF7GSE15244 115026396 115026836 440 13026
RARG MCF7GSE15244 115026581 115026836 255 13118
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 114984674 114985785 1111 0
CTCF G2GSE9613 114948451 114948773 322 0
FOXA1 MCF7GSE15244 114948701 114949052 351 0
H3K4me2 HCT116GSE10453 114948849 114949719 870 0
H3K4me3 colorectalcancer 114948737 114949897 1160 0
H3ac HepG2E 114948737 114951436 2699 0
Nanog hESGSE18292 114954988 114955255 267 0
Oct1 HelaGSE14283 114950071 114950107 36 0
P300 T0-glioblastomaGSE21026 114984588 114985690 1102 0
P300 T30-glioblastomaGSE21026 114984556 114986039 1483 0
TAF k562GSE8489 114948773 114950681 1908 0
USF1 HepG2E 114947905 114949756 1851 0
USF2 HepG2E 114948920 114949644 724 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
18508 mRNA ATP6V1A chr3 114948597 115013591 53 EST chr3 114948406 114948945Sense/Antisense (SA) pairs

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


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