AutismKB 2.0

Annotation Details for ETV3


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Basic Information Top
Gene Symbol:ETV3 ( FLJ79173,METS,PE-1,PE1,bA110J1.4 )
Gene Full Name: ets variant 3
Band: 1q23.1
Quick LinksEntrez ID:2117; OMIM: 164873; Uniprot ID:ETV3_HUMAN; ENSEMBL ID: ENSG00000117036; HGNC ID: 3492
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000790IEA-nuclear chromatin-
GO:0005634IBA-nucleus-
GO:0090571IEA-RNA polymerase II transcription repressor complex-
GO ID Evidence Qualifier GO_term References
GO:0000977IEA-RNA polymerase II regulatory region sequence-specific DNA binding-
GO:0000981IBA-RNA polymerase II transcription factor activity, sequence-specific DNA binding-
GO:0001227IEA-transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding-
GO:0003674ND-molecular_function-
GO:0017151IEA-DEAD/H-box RNA helicase binding-
GO ID Evidence Qualifier GO_term References
GO:0000122IEA-negative regulation of transcription from RNA polymerase II promoter-
GO:0006351IEA-transcription, DNA-templated-
GO:0006357IBA-regulation of transcription from RNA polymerase II promoter-
GO:0008150ND-biological_process-
GO:0008285IEA-negative regulation of cell proliferation-
GO:0030154IBA-cell differentiation-
GO:0097011IEA-cellular response to granulocyte macrophage colony-stimulating factor stimulus-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
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  (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