AutismKB 2.0

Annotation Details for ABCA6


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Basic Information Top
Gene Symbol:ABCA6 ( EST155051,FLJ43498 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 6
Band: 17q24.2-q24.3
Quick LinksEntrez ID:23460; OMIM: 612504; Uniprot ID:ABCA6_HUMAN; ENSEMBL ID: ENSG00000154262; HGNC ID: 36
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005654IDA-nucleoplasm-
GO:0016021IEA-integral component of membrane-
GO:0043231IBA-intracellular membrane-bounded organelle-
GO ID Evidence Qualifier GO_term References
GO:0005524IEA-ATP binding-
GO:0042626IBA-ATPase activity, coupled to transmembrane movement of substances-
GO ID Evidence Qualifier GO_term References
GO:0006869IBA-lipid transport-
GO:0055085IEA-transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1923434
  • 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


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