FBXO15
Homo sapiens
Gene Name: F-box protein 15
Aliases: FBX15
Chromosome No: 18
Chromosome Band: 18q22.3
Genetic Category: Rare Single Gene variant
Aliases: FBX15
Chromosome No: 18
Chromosome Band: 18q22.3
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 12
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 12
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A rare inherited duplication of the FBXO15 gene was found in an individual with ASD (Christian et al., 2008).
Molecular Function
Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004; PMID 15520277).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
ASD
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN315R002
missense_variant
c.436G>T
p.Val146Phe
De novo
Unknown
GEN315R003
missense_variant
c.T1099T>C;c.871T>C
p.Tyr367His;p.Tyr291His
De novo
Simplex
Common
No Common Variants Available