AutismKB 2.0

Annotation Details for KLHL8


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Basic Information Top
Gene Symbol:KLHL8 ( FLJ46304,KIAA1378 )
Gene Full Name: kelch-like 8 (Drosophila)
Band: 4q22.1
Quick LinksEntrez ID:57563; OMIM: 611967; Uniprot ID:KLHL8_HUMAN; ENSEMBL ID: ENSG00000145332; HGNC ID: 18644
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005654IDA-nucleoplasm-
GO:0031463IDA-Cul3-RING ubiquitin ligase complex19158078
GO ID Evidence Qualifier GO_term References
GO:0004842IBAcontributes_toubiquitin-protein transferase activity-
GO ID Evidence Qualifier GO_term References
GO:0016567IDA-protein ubiquitination19158078
GO:0042787IDA-protein ubiquitination involved in ubiquitin-dependent protein catabolic process19158078
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
KLHL8COPS612161819615732 Affinity Capture-MS
KLHL8COPS611617619615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2179430
  • 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