AutismKB 2.0

Annotation Detail for ATP13A3


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Basic Information Top
Gene Symbol:ATP13A3 ( AFURS1,DKFZp686K16189,FLJ90613 )
Gene Full Name: ATPase type 13A3
Band: 3q29
Quick LinksEntrez ID:79572; OMIM: 610232; Uniprot ID:AT133_HUMAN; ENSEMBL ID: ENSG00000133657; HGNC ID: 24113
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
98Phosphoserine.
817Phosphoserine.
Location(AA) Modifications Resource
817Phosphoserine.Swiss-Prot 53.0
817PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
1AcetylmethionineHMM predict
23N-linkedHMM predict
90Phosphoserine(PKG)HMM predict
98Phosphoserine(CDC2)HMM predict
101Phosphoserine(IKK)HMM predict
117N-linkedHMM predict
122N-linkedHMM predict
130Phosphoserine(IKK)HMM predict
134Phosphoserine(ATM)HMM predict
150N-linkedHMM predict
155N-linkedHMM predict
232SulfotyrosineHMM predict
300N-linkedHMM predict
312N-linkedHMM predict
318N-linkedHMM predict
332O-linkedHMM predict
358Phosphothreonine(PKA)HMM predict
500PhosphothreonineHMM predict
650Phosphotyrosine(INSR)HMM predict
906Phosphoserine(IKK)HMM predict
915O-linkedHMM predict
1045N-linkedHMM predict
1053N-linkedHMM predict
1059N-linkedHMM predict
1073N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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