FRK
Homo sapiens
Gene Name: fyn-related kinase
Aliases: GTK, PTK5, RAK
Chromosome No: 6
Chromosome Band: 6q22.1
Genetic Category: Genetic Association-Rare single gene variant
Aliases: GTK, PTK5, RAK
Chromosome No: 6
Chromosome Band: 6q22.1
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 8
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the FRK 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
The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth.
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
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN097R001
missense_variant
c.398C>T
p.Ser133Leu
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
GEN097C002
intergenic_variant
rs9384952
Discovery cohort: 2165 participants from AGRE
Discovery
