YTHDC2
Homo sapiens
Gene Name: YTH domain containing 2
Aliases: CAHL
Chromosome No: 5
Chromosome Band: 5q22.2
Genetic Category: Rare Single Gene variant-Genetic association-
Aliases: CAHL
Chromosome No: 5
Chromosome Band: 5q22.2
Genetic Category: Rare Single Gene variant-Genetic association-
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 6
Evidence score: 3
ASD Reports: 7
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 6
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Rare and potentially damaging de novo missense variants in the YTHDC2 gene have been identified in individuals with ASD (ORoak et al., 2012; De Rubeis et al., 2014). A SNP downstream of the YTHDC2 gene (rs2170527, minor allele C) was found to associate with ASD in a case-control analysis of Japanese ASD cases and controls (Odds ratio 2.602, 95% CI 1.75-3.87, P-value 1.12E-06) in Liu et al., 2016.
Molecular Function
Probable ATP-dependent RNA helicase
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Positive Association
Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations.
ASD
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
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
GEN339C001
intergenic_variant
rs2170527
166 Japanese ASD probands, 642 healthy Japanese controls
Discovery
