CCNG1cyclin G1
Autism Reports / Total Reports
2 / 2Rare Variants / Common Variants
2 / 0Aliases
CCNG1, CCNGAssociated Syndromes
-Chromosome Band
5q34Associated Disorders
-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)].
Molecular Function
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.
External Links
SFARI Genomic Platforms
Reports related to CCNG1 (2 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 | - |
2 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
Rare Variants (2)
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) | |
c.112del | p.Glu38SerfsTer10 | frameshift_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
![](https://gene.sfari.org//wp-content/themes/sfari-gene/img/color-band/2.png)
![](https://gene.sfari.org//wp-content/themes/sfari-gene/img/color-band/s-null.png)
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)].
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
10/1/2019
![icon](https://gene.sfari.org//wp-content/themes/sfari-gene/img/score-down.png)
Decreased from 3 to 2
New Scoring Scheme
Description
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)].
Reports Added
[New Scoring Scheme]10/1/2018
![icon](https://gene.sfari.org//wp-content/themes/sfari-gene/img/score-up.png)
Increased from to 3
Description
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)].
Krishnan Probability Score
Score 0.41158585881122
Ranking 22384/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.35916274520834
Ranking 6173/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.80015195443643
Ranking 2211/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.11912225374202
Ranking 13102/20870 scored genes
[Show Scoring Methodology]