FBXO33
Homo sapiens
Gene Name: F-box protein 33
Aliases: BMND12, Fbx33, c14_5247
Chromosome No: 14
Chromosome Band: 14q21.1
Genetic Category: Genetic Association-Rare single gene variant
Aliases: BMND12, Fbx33, c14_5247
Chromosome No: 14
Chromosome Band: 14q21.1
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 7
Evidence score: 0
ASD Reports: 4
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 7
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the FBXO33 gene and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009).
Molecular Function
This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Positive Association
Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene ...
ADHD
Positive Association
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN088C002
intergenic_variant
rs7147817
Discovery cohort: 2165 participants from AGRE
Discovery
