AutismKB 2.0

Annotation Details for SACS


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Basic Information Top
Gene Symbol:SACS ( ARSACS,DKFZp686B15167,DNAJC29 )
Gene Full Name: spastic ataxia of Charlevoix-Saguenay (sacsin)
Band: 13q12.12
Quick LinksEntrez ID:26278; OMIM: 604490; Uniprot ID:SACS_HUMAN; ENSEMBL ID: ENSG00000151835; HGNC ID: 10519
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus19208651
GO:0005737IDA-cytoplasm19208651
GO:0005739IDA-mitochondrion19208651
GO:0030424TAS-axon19208651
GO:0030425TAS-dendrite19208651
GO:0070852TAS-cell body fiber19208651
GO ID Evidence Qualifier GO_term References
GO:0030544IPI-Hsp70 protein binding19208651
GO:0051087IDA-chaperone binding19208651
GO:0070628IPI-proteasome binding19208651
GO ID Evidence Qualifier GO_term References
GO:0006457NAS-protein folding10655055
GO:0090084IMP-negative regulation of inclusion body assembly19208651
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1354724
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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