KDM4Clysine demethylase 4C
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
10 / 0Aliases
KDM4C, GASC1, JHDM3C, JMJD2C, TDRD14CAssociated Syndromes
-Chromosome Band
9p24.1Associated 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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)]. In a follow-up CNV analysis in a Japanese sample set of 2,605 schizophrenia cases, 1,141 ASD cases, and 2,310 controls, Kato et al., 2020 found evidence for significant associations between CNVs affecting KDM4C and ASD (p = 0.04) and schizophrenia (p=0.003).
Molecular Function
This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation.
Reports related to KDM4C (3 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 | Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes | Feliciano P et al. (2019) | Yes | - |
3 | Support | Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder | Kato H et al. (2020) | Yes | - |
Rare Variants (10)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | copy_number_loss | Unknown | - | Simplex | 33279929 | Kato H et al. (2020) | |
- | - | copy_number_gain | Unknown | - | Unknown | 33279929 | Kato H et al. (2020) | |
- | - | copy_number_gain | Unknown | - | Simplex | 30208311 | Kushima I , et al. (2018) | |
- | - | copy_number_loss | Unknown | - | Simplex | 30208311 | Kushima I , et al. (2018) | |
- | - | copy_number_gain | Unknown | - | Unknown | 30208311 | Kushima I , et al. (2018) | |
- | - | copy_number_loss | Unknown | - | Unknown | 30208311 | Kushima I , et al. (2018) | |
- | - | copy_number_loss | Unknown | - | Multiplex | 30208311 | Kushima I , et al. (2018) | |
- | - | copy_number_loss | Familial | Maternal | Simplex | 33279929 | Kato H et al. (2020) | |
- | - | copy_number_loss | Familial | Paternal | Simplex | 30208311 | Kushima I , et al. (2018) | |
c.2557T>G | p.Trp853Gly | missense_variant | De novo | NA | - | 31452935 | Feliciano P et al. (2019) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate


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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
Score Delta: Decreased from 3 to 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.
10/1/2021

Decreased from 3 to 2
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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
7/1/2021

Decreased from 3 to 2
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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
4/1/2021

Decreased from 3 to 2
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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
1/1/2021

Decreased from 3 to 2
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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
10/1/2020

Decreased from 3 to 2
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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
7/1/2020

Decreased from 3 to 2
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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
4/1/2020

Decreased from 3 to 2
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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
1/1/2020

Decreased from 3 to 2
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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
10/1/2019

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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
7/1/2019

Decreased from 3 to 2
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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
4/1/2019

Decreased from 3 to 2
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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
1/1/2019

Decreased from 3 to 2
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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
10/1/2018

Increased from to 2
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 KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
Krishnan Probability Score
Score 0.49192458415654
Ranking 4920/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.0007587346026227
Ranking 11960/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.94566687863515
Ranking 16561/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.48587120147617
Ranking 613/20870 scored genes
[Show Scoring Methodology]