AutismKB 2.0

Annotation Detail for ATP6V1B1


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Basic Information Top
Gene Symbol:ATP6V1B1 ( ATP6B1,MGC32642,RTA1B,VATB,VMA2,VPP3 )
Gene Full Name: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
Band: 2p13.3
Quick LinksEntrez ID:525; OMIM: 192132; Uniprot ID:VATB1_HUMAN; ENSEMBL ID: ENSG00000116039; HGNC ID: 853
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
513PDZ-binding.
Location(AA) Modifications Resource
Location(AA) Modification Resource
40Phosphothreonine(PKC)HMM predict
115Phosphothreonine(MAPK)HMM predict
127N-linkedHMM predict
245N-linkedHMM predict
250N-linkedHMM predict
320Phosphotyrosine(INSR)HMM predict
383Phosphotyrosine(EGFR)HMM predict
439Phosphothreonine(CK2)HMM predict
464N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001692
  • Location:chr2 71016505-71046067
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 71015725 71016042 317 622
TFAP2C MCF7GSE21234 71015990 71016697 707 162
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 71045584 71045876 292 0
CTCF CD4SISSRdata 71045584 71045876 292 0
CTCF G2GSE9613 71018577 71019289 712 0
CTCF G2GSE9613 71021863 71022006 143 0
CTCF G2GSE9613 71026516 71028274 1758 0
CTCF G2GSE9613 71029028 71029842 814 0
CTCF G2GSE9613 71040573 71041416 843 0
CTCF G2GSE9613 71044043 71044363 320 0
CTCF G2GSE9613 71045439 71045964 525 0
ER E2-MCF7GSE14664 71025394 71025484 90 0
ER Fulvestrant-MCF7GSE14664 71018933 71018967 34 0
KLF4 hESGSE17917 71024524 71024807 283 0
Myc K562GSE19551 71029037 71029490 453 0
Oct1 H2O2-HelaGSE14283 71018934 71018963 29 0
Oct1 HelaGSE14283 71018925 71018966 41 0
Oct1 HelaGSE14283 71031745 71031789 44 0
Oct1 HelaGSE14283 71035474 71035539 65 0
Rb shRbQuiescentGSE19898 71035524 71035782 258 0
SRF HelaGSE8489 71035071 71035244 173 0
TFAP2C MCF7GSE21234 71017742 71019328 1586 0
hScc1 BcellGSE12603 71018364 71018649 285 0
hScc1 BcellGSE12603 71040016 71040542 526 0
hScc1 BcellGSE12603 71045369 71046049 680 0
hScc1 CdLSGSE12603 71045169 71046085 916 0
hScc1 G2GSE9613 71026975 71027895 920 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
14445 mRNA ATP6V1B1 chr2 71077350 71104205 39 EST chr2 71080697 71087382Sense/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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