JMJD1C

Chr 10

jumonji domain containing 1C

Also known as: KDM3C, TRIP-8, TRIP8

NCBI Gene: 221037ENSG00000171988UniProt: Q15652

The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.07
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.07LOEUF
pLI 1.000
Z-score 9.35
OE 0.03 (0.01–0.07)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
1.51Z-score
OE missense 0.88 (0.84–0.93)
1138 obs / 1291.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.03 (0.01–0.07)
0≤0.351.4
Missense OE?0.88 (0.84–0.93)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 3 / 107.7Missense obs/exp: 1138 / 1291.0Syn Z: -1.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

JMJD1C · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients