DPYS (dihydropyrimidinase)

2006-10-01 Affiliation

Identity

HGNC

DPYS

LOCATION

8q22.3

LOCUSID

1807

ALIAS

DHP,DHPase

FUSION GENES

Show Gene Fusions

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)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Pyrimidine metabolism	KEGG	ko00240
beta-Alanine metabolism	KEGG	ko00410
Pantothenate and CoA biosynthesis	KEGG	ko00770
Drug metabolism - other enzymes	KEGG	ko00983
Pyrimidine metabolism	KEGG	hsa00240
beta-Alanine metabolism	KEGG	hsa00410
Pantothenate and CoA biosynthesis	KEGG	hsa00770
Drug metabolism - other enzymes	KEGG	hsa00983
Metabolic pathways	KEGG	hsa01100
Pyrimidine degradation, uracil => beta-alanine, thymine => 3-aminoisobutanoate	KEGG	M00046
Pyrimidine degradation, uracil => beta-alanine, thymine => 3-aminoisobutanoate	KEGG	hsa_M00046
Metabolism	REACTOME	R-HSA-1430728
Metabolism of nucleotides	REACTOME	R-HSA-15869
Pyrimidine metabolism	REACTOME	R-HSA-73848
Pyrimidine catabolism	REACTOME	R-HSA-73621

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	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-(dihydropyrimidinase)