DPYS (dihydropyrimidinase)

2006-10-01  

Identity

HGNC
LOCATION
8q22.3
LOCUSID
ALIAS
DHP,DHPase
FUSION GENES

Other Information

Locus ID:

NCBI: 1807
MIM: 613326
HGNC: 3013
Ensembl: ENSG00000147647

Variants:

dbSNP: 1807
ClinVar: 1807
TCGA: ENSG00000147647
COSMIC: DPYS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147647ENST00000351513Q14117
ENSG00000147647ENST00000521573E5RG28
ENSG00000147647ENST00000533874H0YEV7

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Pyrimidine metabolismKEGGko00240
beta-Alanine metabolismKEGGko00410
Pantothenate and CoA biosynthesisKEGGko00770
Drug metabolism - other enzymesKEGGko00983
Pyrimidine metabolismKEGGhsa00240
beta-Alanine metabolismKEGGhsa00410
Pantothenate and CoA biosynthesisKEGGhsa00770
Drug metabolism - other enzymesKEGGhsa00983
Metabolic pathwaysKEGGhsa01100
Pyrimidine degradation, uracil => beta-alanine, thymine => 3-aminoisobutanoateKEGGM00046
Pyrimidine degradation, uracil => beta-alanine, thymine => 3-aminoisobutanoateKEGGhsa_M00046
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Pyrimidine metabolismREACTOMER-HSA-73848
Pyrimidine catabolismREACTOMER-HSA-73621

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalVariantAnnotationassociatedPD26244261
PA443937Drug ToxicityDiseaseVariantAnnotationassociatedPD26244261
PA444522HyperglycemiaDiseaseClinicalAnnotationassociatedPD
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD
PA445062NeoplasmsDiseaseVariantAnnotationassociatedPD26244261
PA448499atenololChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
203626662010Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.20
251933872014DNA methylation gene-based models indicating independent poor outcome in prostate cancer.8
180754672007Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism.7
180754672007Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism.7
173839192007Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.5
196496332010Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients.5
196496332010Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients.5
207973172010Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT.2
267716022016Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.1
290546122017Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.1

Citation

Dessen P

DPYS (dihydropyrimidinase)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43232/dpys