Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1807
MIM: 613326
HGNC: 3013
Ensembl: ENSG00000147647
Variants:
dbSNP: 1807
ClinVar: 1807
TCGA: ENSG00000147647
COSMIC: DPYS
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000147647 | ENST00000351513 | Q14117 |
| ENSG00000147647 | ENST00000521573 | E5RG28 |
| ENSG00000147647 | ENST00000533874 | H0YEV7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA128406956 | fluorouracil | Chemical | VariantAnnotation | associated | PD | 26244261 | |
| PA443937 | Drug Toxicity | Disease | VariantAnnotation | associated | PD | 26244261 | |
| PA444522 | Hyperglycemia | Disease | ClinicalAnnotation | associated | PD | ||
| PA444552 | Hypertension | Disease | ClinicalAnnotation | associated | PD | ||
| PA445062 | Neoplasms | Disease | VariantAnnotation | associated | PD | 26244261 | |
| PA448499 | atenolol | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36414408 | 2023 | Functional Characterization of 12 Dihydropyrimidinase Allelic Variants in Japanese Individuals for the Prediction of 5-Fluorouracil Treatment-Related Toxicity. | 2 |
| 37946254 | 2023 | The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity. | 1 |
| 36414408 | 2023 | Functional Characterization of 12 Dihydropyrimidinase Allelic Variants in Japanese Individuals for the Prediction of 5-Fluorouracil Treatment-Related Toxicity. | 2 |
| 37946254 | 2023 | The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity. | 1 |
| 31853544 | 2020 | Dihydropyrimidinase protects from DNA replication stress caused by cytotoxic metabolites. | 10 |
| 31853544 | 2020 | Dihydropyrimidinase protects from DNA replication stress caused by cytotoxic metabolites. | 10 |
| 29054612 | 2017 | Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity. | 4 |
| 29054612 | 2017 | Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity. | 4 |
| 26771602 | 2016 | Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene. | 5 |
| 26771602 | 2016 | Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene. | 5 |
| 25193387 | 2014 | DNA methylation gene-based models indicating independent poor outcome in prostate cancer. | 16 |
| 25193387 | 2014 | DNA methylation gene-based models indicating independent poor outcome in prostate cancer. | 16 |
| 19649633 | 2010 | Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients. | 8 |
| 19649633 | 2010 | Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients. | 8 |
| 20362666 | 2010 | Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. | 30 |
Citation
Dessen P
DPYS (dihydropyrimidinase)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43232/dpys
