AutismKB 2.0

Annotation Details for FBXO40


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Basic Information Top
Gene Symbol:FBXO40 ( FBX40,KIAA1195,MGC129902,MGC129903 )
Gene Full Name: F-box protein 40
Band: 3q13.33
Quick LinksEntrez ID:51725; OMIM: 609107; Uniprot ID:FBX40_HUMAN; ENSEMBL ID: ENSG00000163833; HGNC ID: 29816
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737ISS-cytoplasm-
GO:0005829TAS-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0004842EXP-ubiquitin-protein transferase activity19028597
GO:0004842TAS-ubiquitin-protein transferase activity-
GO:0008270IEA-zinc ion binding-
GO:0061630IEA-ubiquitin protein ligase activity-
GO ID Evidence Qualifier GO_term References
GO:0000209TAS-protein polyubiquitination-
GO:0042692ISS-muscle cell differentiation17928169
GO:0043687TAS-post-translational protein modification-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2443753
  • 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