| Entrez Gene ID | 1806 |
|---|---|
| Official Gene Symbol | DPYD (GeneCards) |
| Full name | dihydropyrimidine dehydrogenase |
| Location | 1p21.3 |
| Other ids | Vega : OTTHUMG00000039683 MIM : 612779 HGNC : HGNC:3012 Ensembl : ENSG00000188641 |
| Other names | DHP, DPD, DHPDHASE |
| Summary | The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 963 | 1806 | DPYD | 1 | 98165080 | 98165080 | Human Skin Fibroblasts | HiSeq 2500 |
| 1598 | 1806 | DPYD | 1 | 97908058 | 97908058 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 1930 | 1806 | DPYD | 1 | 98294402 | 98294402 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 1981 | 1806 | DPYD | 1 | 97820625 | 97820625 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 2851 | 1806 | DPYD | 1 | 97842533 | 97842533 | Xeroderma Pigmentosum | HiSeq 2500 HiSeq X Ten |
| 24601 | 1806 | DPYD | 1 | 98304948 | 98304948 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |