| Variant ID | 963 |
|---|---|
| Entrez Gene ID | 1806 |
| Gene | DPYD (GeneCards) |
| Location | hg19 1:98165080-98165080
hg38 1:97699524-97699524 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.98165080 T>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 169 |
| Amino acid changes in protein | P > P |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1893 |
| CADD Raw score (version 1.3) | 0.196639 (Deleterious) |
| FATHMM raw prediction score | 0.97115 (Tolerated) |
| Deleterious probability by DeFine | 0.8859 (Deleterious) |
| Entrez Gene ID | 1806 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DPYD (GeneCards) |
| Number of variants in DPYD in this database | 6 (view all the variants) |
| Full name | dihydropyrimidine dehydrogenase |
| Band | 1p21.3 |
| Other IDs | Vega: OTTHUMG00000039683 OMIM: 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] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |