FER
Homo sapiens
Gene Name: FERtyrosine kinase
Aliases: FerT, PPP1R74, TYK3
Chromosome No: 5
Chromosome Band: 5q21.3
Genetic Category: Genetic association-Rare single gene variant
Aliases: FerT, PPP1R74, TYK3
Chromosome No: 5
Chromosome Band: 5q21.3
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 8
Evidence score: 0
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 8
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
In a genome-wide association study of 2165 participants from the Autism Genetic Resource Exchange (AGRE) performed to examine associations between genomic loci and endophenotypes associated with ASDs, it was shown that item 22 ("loss of motor skills") on the Autism Diagnostic Interview-Revised (ADIR) is significantly associated with the FER gene (Connolly et al., 2012).
Molecular Function
The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
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
GEN429C001
intron_variant
rs3797817
c.1329+2419A>G;c.1110+2419A>G;c.222+2419A>G
Discovery cohort: 2165 participants from AGRE
Discovery
GEN429C002
intron_variant
rs3797817
c.1329+2419A>G;c.1110+2419A>G;c.222+2419A>G
Replication cohort: 1168 families from the Autism Genome Project (AGP)
Replication
