AutismKB 2.0

Annotation Detail for ATXN7L3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ATXN7L3 ( DKFZp761G2113 )
Gene Full Name: ataxin 7-like 3
Band: 17q21.31
Quick LinksEntrez ID:56970; OMIM: NA; Uniprot ID:AT7L3_HUMAN; ENSEMBL ID: ENSG00000087152; HGNC ID: 25416
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
278Phosphoserine.
281Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
7Phosphoserine(CK1)HMM predict
9Phosphoserine(ATM)HMM predict
111N-linkedHMM predict
117N-linkedHMM predict
127N-linkedHMM predict
131Phosphoserine(CK2)HMM predict
131Phosphoserine(CK2)HMM predict
157Phosphoserine(PKA)HMM predict
163Phosphoserine(CDC2)HMM predict
163PhosphoserineHMM predict
187N-linkedHMM predict
203Phosphoserine(CK1)HMM predict
236Phosphothreonine(PKC)HMM predict
254Phosphoserine(CK1)HMM predict
265Phosphoserine(ATM)HMM predict
281Phosphoserine(IKK)HMM predict
281Phosphoserine(ATM)HMM predict
283Phosphoserine(CK1)HMM predict
285Phosphoserine(ATM)HMM predict
287Phosphoserine(CK1)HMM predict
291Phosphoserine(CK1)HMM predict
301N-linkedHMM predict
308Phosphothreonine(PKC)HMM predict
337ProlineHMM predict
339Phosphothreonine(MAPK)HMM predict
343Phosphotyrosine(INSR)HMM 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