GDA
Homo sapiens
Gene Name: guanine deaminase
Aliases: RP11-63P12.1, CYPIN, GUANASE, NEDASIN
Chromosome No: 9
Chromosome Band: 9q21.13
Genetic Category: Rare single gene variant-Genetic association
Aliases: RP11-63P12.1, CYPIN, GUANASE, NEDASIN
Chromosome No: 9
Chromosome Band: 9q21.13
Genetic Category: Rare single gene variant-Genetic association
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 12
Evidence score: 0
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 12
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Molecular Function
This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Support
Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder
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
GEN682C001
intron_variant
rs4327921
c.-100+20987G>A;c.-144+20987G>A
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery