AutismKB 2.0

Annotation Details for DEAF1


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Basic Information Top
Gene Symbol:DEAF1 ( NUDR,SPN,ZMYND5 )
Gene Full Name: deformed epidermal autoregulatory factor 1 (Drosophila)
Band: 11p15.5
Quick LinksEntrez ID:10522; OMIM: 602635; Uniprot ID:DEAF1_HUMAN; ENSEMBL ID: ENSG00000177030; HGNC ID: 14677
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001650IDA-fibrillar center-
GO:0005576IEA-extracellular region-
GO:0005634IBA-nucleus-
GO:0005634IDA-nucleus-
GO:0005667IEA-transcription factor complex-
GO:0005737IEA-cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0003677IEA-DNA binding-
GO:0003700IBA-transcription factor activity, sequence-specific DNA binding-
GO:0005515IPI-protein binding20368287
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0001662IEA-behavioral fear response-
GO:0001843ISS-neural tube closure-
GO:0006357IBA-regulation of transcription from RNA polymerase II promoter-
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0007281TAS-germ cell development9773984
GO:0008542IEA-visual learning-
GO:0009653TAS-anatomical structure morphogenesis9773984
GO:0033599IDA-regulation of mammary gland epithelial cell proliferation18826651
GO:0045892IDA-negative regulation of transcription, DNA-templated24726472
GO:0045893IDA-positive regulation of transcription, DNA-templated24726472
GO:0048706ISS-embryonic skeletal system development-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
DEAF1LMO411577711751867 Two-hybrid
DEAF1LMO411411311751867 Two-hybrid
ASCC2DEAF111577716169070 Two-hybrid
ASCC2DEAF112392116169070 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1858496
  • Data Attributes: HomoloGene calculated
No data
No data

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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