Autism Reports / Total Reports1 / 1
Rare Variants / Common Variants1 / 0
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the CCNG1 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 3 CNVs from SCZ cases (6 total) vs. 1 CNV in controls (Odds ratio 2.75, P = 3.2E-02)].
The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and may play a role in growth regulation. Its associated with G2/M phase arrest in response to DNA damage and may be an intermediate by which p53 mediates its role as an inhibitor of cellular proliferation.
Reports related to CCNG1 (1 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.||Kushima I , et al. (2018)||Yes||-|
Rare Variants (1)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|-||-||copy_number_gain||Unknown||-||-||30208311||Kushima I , et al. (2018)|
No common variants reported.
CNVs associated with CCNG1(1 CNVs)
|5q34||7||Deletion-Duplication||14 / 50|