STYK1
Homo sapiens
Gene Name: Serine/threonine/tyrosine kinase 1
Aliases: NOK, SuRTK106
Chromosome No: 12
Chromosome Band: 12p13.2
Genetic Category: Genetic association-Rare single gene variant
Aliases: NOK, SuRTK106
Chromosome No: 12
Chromosome Band: 12p13.2
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 6
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two intronic SNPS within the STYK1 gene showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).
Molecular Function
This gene encodes a probable tyrosine protein-kinase, which has strong transforming capabilities on a variety of cell lines and may act by activating both MAP kinase and phosphatidylinositol 3'-kinases (PI3K) pathways.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN778R001
frameshift_variant
c.1171_1183del
p.Ala391TyrfsTer39
Familial
Maternal
Multiplex
GEN778R004
frameshift_variant
c.323_324del
p.Val108AlafsTer7
Familial
Paternal
Multiplex
GEN778R005
frameshift_variant
c.144del
p.Phe48LeufsTer26
Familial
Maternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN778C001
intron_variant
rs7953930
c.-195+8383G>C;c.-69+8383G>C;c.-260+8383G>C;c.-195+1706G>C;c.-195+7933G>C
315 ASD cases, 1115 healthy controls (Taiwanese Han)
Discovery
GEN778C002
intron_variant
rs16922945
c.-195+7419A>G;c.-69+7419A>G;c.-260+7419A>G;c.-195+742A>G;c.-195+6969A>G
315 ASD cases, 1115 healthy controls (Taiwanese Han)
Discovery