DPYS Chromosome 8
Dihydropyrimidinase
Upload your DNA to see your personal genotypes for variants in DPYS.
What This Gene Does
Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
M38 metallopeptidases
Locus Type
gene with protein product
Location
8q22.3
Ensembl
ENSG00000147647
Associated Conditions (5)
Dihydropyrimidinase deficiency
Inborn genetic diseases
DPYS-related disorder
See cases
Hepatocellular carcinoma
Key Variants
RS1013557835
Conflicting classifications of pathogenicity
Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
Health Risk
RS370718225
Conflicting classifications of pathogenicity
Inborn genetic diseases, Dihydropyrimidinase deficiency, Inborn genetic diseases
Health Risk
RS371567511
Conflicting classifications of pathogenicity
Health Risk
RS538231044
Conflicting classifications of pathogenicity
Health Risk
RS538642538
Conflicting classifications of pathogenicity
Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
Health Risk
RS546700169
Conflicting classifications of pathogenicity
Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
Health Risk
RS568135080
Conflicting classifications of pathogenicity
Dihydropyrimidinase deficiency, DPYS-related disorder, Dihydropyrimidinase deficiency
Health Risk
RS672601293
Conflicting classifications of pathogenicity
Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
Health Risk
RS79080341
Conflicting classifications of pathogenicity
See cases, Dihydropyrimidinase deficiency, See cases
Health Risk
RS200913682
Likely pathogenic
Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
Health Risk
RS2537770775
Likely pathogenic
Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
Health Risk
RS376965972
Likely pathogenic
Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1013557835 | Health Risk | Conflicting classifications of pathogenicity | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS370718225 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Dihydropyrimidinase deficiency, Inborn genetic diseases |
| RS371567511 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS538231044 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS538642538 | Health Risk | Conflicting classifications of pathogenicity | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS546700169 | Health Risk | Conflicting classifications of pathogenicity | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS568135080 | Health Risk | Conflicting classifications of pathogenicity | Dihydropyrimidinase deficiency, DPYS-related disorder, Dihydropyrimidinase deficiency |
| RS672601293 | Health Risk | Conflicting classifications of pathogenicity | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS79080341 | Health Risk | Conflicting classifications of pathogenicity | See cases, Dihydropyrimidinase deficiency, See cases |
| RS200913682 | Health Risk | Likely pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS2537770775 | Health Risk | Likely pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS376965972 | Health Risk | Likely pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS756733436 | Health Risk | Likely pathogenic | Dihydropyrimidinase deficiency, Hepatocellular carcinoma, Dihydropyrimidinase deficiency |
| RS121964923 | Health Risk | Pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS1321466782 | Health Risk | Pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS1814423398 | Health Risk | Pathogenic | — |
| RS201280871 | Health Risk | Pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS2140496185 | Health Risk | Pathogenic | — |
| RS2140799679 | Health Risk | Pathogenic | — |
| RS2537770319 | Health Risk | Pathogenic | — |
| RS2537826958 | Health Risk | Pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS2537880437 | Health Risk | Pathogenic | — |
| RS267606773 | Health Risk | Pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS267606774 | Health Risk | Pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS770063251 | Health Risk | Pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS771160155 | Health Risk | Pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS1020872387 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Dihydropyrimidinase deficiency, Inborn genetic diseases |
| RS121964924 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS142574766 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS1470151699 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS189448963 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidinase deficiency, DPYS-related disorder, Dihydropyrimidinase deficiency |
| RS201258823 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidinase deficiency, Inborn genetic diseases, Dihydropyrimidinase deficiency |
| RS61758444 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency |
| RS879851088 | Health Risk | Pathogenic/Likely pathogenic | DPYS-related disorder, DPYS-related disorder |