AutismKB 2.0

Annotation Details for BTBD8


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Basic Information Top
Gene Symbol:BTBD8 ( - )
Gene Full Name: BTB (POZ) domain containing 8
Band: 1p22.1
Quick LinksEntrez ID:284697; OMIM: NA; Uniprot ID:BTBD8_HUMAN; ENSEMBL ID: ENSG00000189195; HGNC ID: 21019
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IBA-nucleus-
GO:0005654IDA-nucleoplasm-
GO:0005737IBA-cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0000976IBA-transcription regulatory region sequence-specific DNA binding-
GO:0003700IBA-transcription factor activity, sequence-specific DNA binding-
GO ID Evidence Qualifier GO_term References
GO:0006357IBA-regulation of transcription from RNA polymerase II promoter-
GO:0045893IBA-positive regulation of transcription, DNA-templated-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
BTBD8WIPI212993720562859 Affinity Capture-MS
BTBD8WIPI211755020562859 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
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