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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
 GEN089R001 
 missense_variant 
 c.344T>G 
 p.Ile115Ser 
 Familial 
 Paternal 
 Multiplex 
 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
 GEN089C001 
 copy_number_gain 
  
  
  
 AGRE, ACC 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 1
 
3
Deletion
 1
 
3
Deletion
 2
 
3
Deletion-Duplication
 6
 

No Animal Model Data Available



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