AutismKB 2.0

Annotation Detail for ATP6V0D1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ATP6V0D1 ( ATP6D,ATP6DV,FLJ43534,P39,VATX,VMA6,VPATPD )
Gene Full Name: ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1
Band: 16q22.1
Quick LinksEntrez ID:9114; OMIM: 607028; Uniprot ID:VA0D1_HUMAN; ENSEMBL ID: ENSG00000159720; HGNC ID: 13724
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
270Phosphotyrosine (By similarity).
283Phosphoserine (By similarity).
Location(AA) Modifications Resource
283Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
90Phosphotyrosine(SRC)HMM predict
146Phosphothreonine(MAPK)HMM predict
261Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004691
  • Location:chr16 66029417-66072589
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 66072600 66072949 349 185
CTCF CD4SISSRdata 66072600 66072949 349 185
CTCF G2GSE9613 66072514 66072893 379 114
ETS1 JurkatGSE17954 66072074 66073224 1150 60
Fos K562GSE19551 66072356 66072865 509 21
PHF8 Hs68plusFBSGSE20725 66071687 66073656 1969 82
hScc1 CdLSGSE12603 66072321 66072893 572 18
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 66057260 66057481 221 0
CTCF CD4SISSRdata 66057260 66057481 221 0
CTCF HelaGSE12889 66039118 66039286 168 0
CTCF HelaGSE12889 66057188 66057548 360 0
CTCF JurkatGSE12889 66057186 66057480 294 0
CTCF G2GSE9613 66030402 66030627 225 0
CTCF G2GSE9613 66031452 66031716 264 0
CTCF G2GSE9613 66032665 66032921 256 0
CTCF G2GSE9613 66035686 66036006 320 0
CTCF G2GSE9613 66036474 66036821 347 0
CTCF G2GSE9613 66038990 66039433 443 0
CTCF G2GSE9613 66045550 66045895 345 0
CTCF G2GSE9613 66049519 66049651 132 0
CTCF G2GSE9613 66056979 66057540 561 0
Fos K562GSE19551 66057015 66057562 547 0
H3K4me3 colorectalcancer 66071632 66072198 566 0
H3ac HepG2E 66070222 66070592 370 0
HIF1 NormHepG2 66072163 66072893 730 0
PHF8 HeLaGSE20725 66071946 66073208 1262 0
Rb GrowingGSE19898 66057297 66057601 304 0
Rb QuiescentGSE19898 66038806 66039084 278 0
TAFII hESGSE17917 66057123 66057539 416 0
TAFII hESGSE17917 66072346 66072831 485 0
TFAP2C MCF7GSE21234 66045244 66045923 679 0
TFAP2C MCF7GSE21234 66053109 66053930 821 0
TFAP2C MCF7GSE21234 66057139 66057571 432 0
USF1 HepG2E 66070051 66070592 541 0
USF1 HepG2E 66070916 66071278 362 0
USF1 HepG2E 66071632 66072893 1261 0
USF2 HepG2E 66070051 66070592 541 0
USF2 HepG2E 66070916 66071278 362 0
USF2 HepG2E 66071632 66072611 979 0
hScc1 BcellGSE12603 66038990 66039360 370 0
hScc1 BcellGSE12603 66057124 66057573 449 0
hScc1 BcellGSE12603 66061762 66061932 170 0
hScc1 BcellGSE12603 66072198 66072893 695 0
hScc1 CdLSGSE12603 66038990 66039433 443 0
hScc1 CdLSGSE12603 66057088 66057573 485 0
p130 QuiescentGSE19898 66072330 66072832 502 0
p130 SenescentGSE19898 66072127 66072885 758 0
p130 shRbQuiescentGSE19898 66071665 66073080 1415 0
p130 shRbSenescentGSE19898 66072281 66072842 561 0
p63 keratinocytesGSE17611 66069084 66069892 808 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved