AutismKB 2.0

Annotation Details for ANKIB1


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Basic Information Top
Gene Symbol:ANKIB1 ( DKFZp434A0225,FLJ33123,KIAA1386 )
Gene Full Name: ankyrin repeat and IBR domain containing 1
Band: 7q21.2
Quick LinksEntrez ID:54467; OMIM: NA; Uniprot ID:AKIB1_HUMAN; ENSEMBL ID: ENSG00000001629; HGNC ID: 22215
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000151IBA-ubiquitin ligase complex-
GO:0005737IBA-cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding20195357
GO:0031624IBA-ubiquitin conjugating enzyme binding-
GO:0046872IEA-metal ion binding-
GO:0061630IBA-ubiquitin protein ligase activity-
GO ID Evidence Qualifier GO_term References
GO:0000209IBA-protein polyubiquitination-
GO:0032436IBA-positive regulation of proteasomal ubiquitin-dependent protein catabolic process-
GO:0042787IBA-protein ubiquitination involved in ubiquitin-dependent protein catabolic process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1918047
  • 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