DAPK1
Homo sapiens
Gene Name: death-associated protein kinase 1
Aliases: DAPK, DKFZp781I035
Chromosome No: 9
Chromosome Band: 9q21.33
Genetic Category: Functional-Genetic Association-Rare single gene variant
Aliases: DAPK, DKFZp781I035
Chromosome No: 9
Chromosome Band: 9q21.33
Genetic Category: Functional-Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 1
Annotated variants: 14
Associated CNVs: 3
Evidence score: 3
ASD Reports: 10
Recent Reports: 1
Annotated variants: 14
Associated CNVs: 3
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Differential expression of the DAPK1 gene has been shown to occur in some autistic individuals (Hu et al., 2006). In addition, genetic association has been found between DAPK1 and late-onset Alzheimer's disease.
Molecular Function
The encoded protein binds ATP and it has calcium- and calmodulin-dependent protein kinase activity.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of n...
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Highly Cited
Hypermethylation of the death-associated protein (DAP) kinase promoter and aggressiveness in stage I non-small-cell lung cancer.
Recent Recommendation
DAPK1 variants are associated with Alzheimer's disease and allele-specific expression.
AD
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
GEN058C001
intron_variant
rs4878104
c.63-26878C>T;c.-234-26878C>T
Caucasian
Discovery
GEN058C002
intron_variant
rs4877365
c.62+41638G>A;c.-235+41638G>A
Caucasian
Discovery
