AutismKB 2.0

Annotation Details for ABTB1


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Basic Information Top
Gene Symbol:ABTB1 ( BPOZ,BTB3,EF1ABP,MGC20585 )
Gene Full Name: ankyrin repeat and BTB (POZ) domain containing 1
Band: 3q21.3
Quick LinksEntrez ID:80325; OMIM: 608308; Uniprot ID:ABTB1_HUMAN; ENSEMBL ID: ENSG00000114626; HGNC ID: 18275
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005730IDA-nucleolus-
GO:0005737IBA-cytoplasm-
GO:0005829IDA-cytosol-
GO:0005886IDA-plasma membrane-
GO:0019005IBA-SCF ubiquitin ligase complex-
GO ID Evidence Qualifier GO_term References
GO:0003746IEA-translation elongation factor activity-
GO:0005515IPI-protein binding25416956
GO:0031625IBA-ubiquitin protein ligase binding-
GO ID Evidence Qualifier GO_term References
GO:0006414IEA-translational elongation-
GO:0030162IBA-regulation of proteolysis-
GO:0042787IBA-protein ubiquitination involved in ubiquitin-dependent protein catabolic process-
GO:0043161IBA-proteasome-mediated ubiquitin-dependent protein catabolic process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1933148
  • Data Attributes: MGI curated and 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