JMJD1C Chromosome 10
Jumonji domain containing 1C
Upload your DNA to see your personal genotypes for variants in JMJD1C.
What This Gene Does
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]
Gene Info
Gene Group
"Lysine demethylases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
10q21.3
Ensembl
ENSG00000171988
Associated Conditions (4)
Autism spectrum disorder
Early myoclonic encephalopathy
Benign familial infantile epilepsy
JMJD1C-related disorder
Key Variants
RS1848103102
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1241903352
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Early myoclonic encephalopathy
Health Risk
RS144839482
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Early myoclonic encephalopathy
Health Risk
RS145265323
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Early myoclonic encephalopathy
Health Risk
RS1844718876
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Early myoclonic encephalopathy
Health Risk
RS1847769670
Conflicting classifications of pathogenicity
Benign familial infantile epilepsy, Early myoclonic encephalopathy, Benign familial infantile epilepsy
Health Risk
RS189118006
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, JMJD1C-related disorder, Early myoclonic encephalopathy
Health Risk
RS200368807
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Early myoclonic encephalopathy
Health Risk
RS200874068
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Early myoclonic encephalopathy
Health Risk
RS200927709
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Early myoclonic encephalopathy
Health Risk
RS201371848
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Early myoclonic encephalopathy
Health Risk
RS201514908
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Early myoclonic encephalopathy
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1848103102 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS1241903352 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS144839482 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS145265323 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS1844718876 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS1847769670 | Health Risk | Conflicting classifications of pathogenicity | Benign familial infantile epilepsy, Early myoclonic encephalopathy, Benign familial infantile epilepsy |
| RS189118006 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, JMJD1C-related disorder, Early myoclonic encephalopathy |
| RS200368807 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS200874068 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS200927709 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS201371848 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS201514908 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS201696710 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS201896088 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS372628812 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS375835104 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS376656512 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS529610837 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS562218545 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS753603959 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS766414903 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS769017713 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS773518308 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS778857216 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS796695209 | Health Risk | Conflicting classifications of pathogenicity | Early myoclonic encephalopathy, Early myoclonic encephalopathy |
| RS1589111139 | Health Risk | Likely pathogenic | — |
| RS1589170008 | Health Risk | Likely pathogenic | — |
| RS1589150589 | Health Risk | Pathogenic | — |
| RS1589629026 | Health Risk | Pathogenic | — |