FBXO40
Homo sapiens
Gene Name: F-box protein 40
Aliases: FBX40, KIAA1195, MGC129902, MGC129903
Chromosome No: 3
Chromosome Band: 3q13.33
Genetic Category: Genetic Association-Rare Single Gene variant
Aliases: FBX40, KIAA1195, MGC129902, MGC129903
Chromosome No: 3
Chromosome Band: 3q13.33
Genetic Category: Genetic Association-Rare Single Gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
ASD Reports: 6
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
In a genome-wide study, association was found between CNVs in the FBXO40 gene and autism in AGRE and ACC cohorts (European ancestry) (Glessner et al., 2009). In addition, a rare variant in the FBXO40 gene has been identified in two siblings with ASD (Vaags et al., 2012).
Molecular Function
Ubiquitin-protein ligase
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
ASD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
ASD
Recent Recommendation
FBXO40, a gene encoding a novel muscle-specific F-box protein, is upregulated in denervation-related muscle atrophy.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN089R002
missense_variant
c.679G>A
p.Ala227Thr
Familial
Extended multiplex (at least one pair of ASD affec
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
