AutismKB 2.0

Annotation Details for EFCAB5


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Basic Information Top
Gene Symbol:EFCAB5 ( DKFZp434G2420,DKFZp686I0638,FLJ46247 )
Gene Full Name: EF-hand calcium binding domain 5
Band: 17q11.2
Quick LinksEntrez ID:374786; OMIM: NA; Uniprot ID:EFCB5_HUMAN; ENSEMBL ID: ENSG00000176927; HGNC ID: 24801
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
No data
GO ID Evidence Qualifier GO_term References
GO:0005509IEA-calcium ion binding-
No data
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2442440
  • Data Attributes: 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


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