HNRNPU Chromosome 1
Heterogeneous nuclear ribonucleoprotein U
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What This Gene Does
This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [provided by RefSeq, Jun 2017]
Gene Info
Gene Group
Heterogeneous nuclear ribonucleoproteins
Locus Type
gene with protein product
Location
1q44
Ensembl
ENSG00000153187
Associated Conditions (15)
Developmental and epileptic encephalopathy
54
Inborn genetic diseases
HNRNPU-related disorder
Seizure
Intellectual disability
See cases
heterogeneous nuclear ribonucleoprotein G
human
Complex neurodevelopmental disorder
Neurodevelopmental disorder
1
Epileptic encephalopathy
Neurodevelopmental delay
Intellectual disability and seizures
Key Variants
RS1014292464
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy
Health Risk
RS1064796325
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy
Health Risk
RS1064796710
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy
Health Risk
RS1171471843
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy
Health Risk
RS1274587234
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 54, Inborn genetic diseases
Health Risk
RS1345467904
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy
Health Risk
RS1360721056
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 54, Inborn genetic diseases
Health Risk
RS1429007292
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy
Health Risk
RS143798359
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 54
Health Risk
RS1489983826
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 54, Inborn genetic diseases
Health Risk
RS1558186011
Conflicting classifications of pathogenicity
HNRNPU-related disorder, Developmental and epileptic encephalopathy, 54
Health Risk
RS1558190256
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy
Health Risk
All Variants (173)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2527890315 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS2527890422 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS2527890446 | Health Risk | Pathogenic | Seizure, Seizure |
| RS2527894182 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS2527894355 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS2527894841 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS2527895328 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS2527895448 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2527895727 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS2527895995 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS2527896284 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS373483406 | Health Risk | Pathogenic | — |
| RS546427799 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS770849021 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS773969888 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS779453109 | Health Risk | Pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 54 |
| RS886041983 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, HNRNPU-related disorder |
| RS981309385 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS1135401794 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS1680727391 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS2527505699 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS2527894074 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 54, Developmental and epileptic encephalopathy |
| RS794729648 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability and seizures, Developmental and epileptic encephalopathy, 54 |