AutismKB 2.0

Annotation Details for DEF6


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Basic Information Top
Gene Symbol:DEF6 ( IBP,SLAT,SWAP70L )
Gene Full Name: differentially expressed in FDCP 6 homolog (mouse)
Band: 6p21.31
Quick LinksEntrez ID:50619; OMIM: 610094; Uniprot ID:DEFI6_HUMAN; ENSEMBL ID: ENSG00000023892; HGNC ID: 2760
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005654IDA-nucleoplasm-
GO:0005829IDA-cytosol-
GO:0005856IEA-cytoskeleton-
GO:0005886IEA-plasma membrane-
GO:0016020IDA-membrane19946888
GO:0030175IEA-filopodium-
GO:0048471IEA-perinuclear region of cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding25416956
No data
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
DEF6RHOA11909915023524 Reconstituted Complex
DEF6RHOA10688015023524 Reconstituted Complex
DEF6CDC4211909915023524 Reconstituted Complex
DEF6CDC4210743315023524 Reconstituted Complex
DEF6RAC111909915023524 Reconstituted Complex
DEF6RAC111181715023524 Reconstituted Complex
DEF6RAC211909915023524 Reconstituted Complex
DEF6RAC211181815023524 Reconstituted Complex
BEGAINDEF611909916189514 Two-hybrid
BEGAINDEF612164716189514 Two-hybrid
Gene Symbol Interactant Interaction ID References Description
DEF6CDC4218242115023524 DEF6 interacts with Cdc42. This interaction was modelled on a demonstrated interaction between human DEF6 and Cdc42 from an unspecified species.
DEF6RAC118242215023524 DEF6 interacts with Rac1. This interaction was modelled on a demonstrated interaction between human DEF6 and Rac1 from an unspecified species.
Gene Symbol Interactant Interaction ID References Description
BEGAINDEF60645916189514 -
BEGAINDEF61086916189514 -
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1346328
  • Data Attributes: HomoloGene calculated
No data
No data

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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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