AutismKB 2.0

Annotation Detail for ATP6V1C1


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Basic Information Top
Gene Symbol:ATP6V1C1 ( ATP6C,ATP6D,FLJ20057,VATC,Vma5 )
Gene Full Name: ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1
Band: 8q22.3
Quick LinksEntrez ID:528; OMIM: 603097; Uniprot ID:VATC1_HUMAN; ENSEMBL ID: ENSG00000155097; HGNC ID: 856
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylthreonine.
Location(AA) Modifications Resource
2N-acetylthreonine.Swiss-Prot 53.0
Location(AA) Modification Resource
181Phosphotyrosine(Syk)HMM predict
217Phosphoserine(CK1)HMM predict
223Phosphotyrosine(Jak)HMM predict
226N-linkedHMM predict
270Phosphothreonine(PKC)HMM predict
327Phosphothreonine(PKC)HMM predict
360N-linkedHMM predict
362Phosphoserine(ATM)HMM predict
366Phosphotyrosine(Syk)HMM predict
367SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
941 Unknown pSILAC miR-155 ATP6V1C1 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000155097 n_a n_a n_a "squamous cell, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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
25799 mRNA ATP6V1C1 chr8 104102444 104154460 39 EST chr8 104101547 104102832Sense/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