SDK1
Homo sapiens
Gene Name: sidekick cell adhesion molecule 1
Aliases:
Chromosome No: 7
Chromosome Band: 7p22.2
Genetic Category: Genetic association-Rare single gene variant
Aliases:
Chromosome No: 7
Chromosome Band: 7p22.2
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 0
Annotated variants: 18
Associated CNVs: 10
Evidence score: 3
ASD Reports: 10
Recent Reports: 0
Annotated variants: 18
Associated CNVs: 10
Evidence score: 3
| Associated Disorders: |
|
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 64 ("is too tense in social settings") on the Social Responsiveness Scale (SRS) is significantly associated with the SDK1 gene (Connolly et al., 2012).
Molecular Function
This gene encodes for a cell adhesion protein that guides axonal terminals to specific synapses in developing neurons.
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
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
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
GEN459R003
synonymous_variant
c.2328G>A
p.Val776=
De novo
Unknown
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN459C001
intron_variant
rs17134117
c.2131+4110C>T
Discovery cohort: 2165 participants from AGRE
Discovery
GEN459C002
intron_variant
rs17134117
c.2131+4110C>T
Replication cohort: 1168 families from the Autism Genome Project (AGP)
Replication
