DPYD (dihydropyrimidine dehydrogenase)

2003-06-01 Affiliation

Identity

HGNC

DPYD

LOCATION

1p21.3

LOCUSID

1806

ALIAS

DHP,DHPDHASE,DPD

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: 1806
MIM: 612779
HGNC: 3012
Ensembl: ENSG00000188641

Variants:

dbSNP: 1806
ClinVar: 1806
TCGA: ENSG00000188641
COSMIC: DPYD

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000188641	ENST00000306031	Q12882
ENSG00000188641	ENST00000370192	Q12882

Expression (GTEx)

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	PK	PD	PMIDs
PA128406956	fluorouracil	Chemical	ClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGene	ambiguous	PK	PD	10071185, 10234617, 10803677, 11156223, 11350878, 11555601, 11895907, 12209976, 12360106, 14635116, 15017333, 15132136, 15591715, 15944764, 16115930, 16151913, 16361556, 17000685, 17064846, 17121937, 17165084, 17203168, 17417073, 17700593, 17848752, 18299612, 18443386, 18452418, 18537153, 18600527, 19473056, 19530960, 19795123, 19858398, 20204365, 20385995, 20665215, 20819423, 21077799, 21498394, 22490566, 23585145, 23603345, 23930673, 23942539, 23988873, 24037119, 24434920, 24648345, 24817302, 24923815, 25410891, 25677447, 25782327, 25796495, 26099996, 26216193, 26265035, 26265346, 26603945, 26792652, 26794347, 26804652, 26846104, 27122156, 27454530, 27544765, 27864592, 27995989, 28295243, 28395758, 28481884, 28614820, 28929491, 28950804, 29065426, 29134491, 29239269, 29769267, 29845393, 29846282, 29889674, 30114658, 30723313, 30858516, 31382864, 32378051, 7964939, 9323575, 9439663, 9470816, 9865912
PA164713220	Pyrimidine analogues	Chemical	ClinicalAnnotation	associated	PK	PD	10071185, 10803677, 11156223, 11350878, 11555601, 11895907, 12209976, 12360106, 14635116, 15017333, 15132136, 16115930, 16151913, 16361556, 17000685, 17064846, 17121937, 17165084, 17203168, 17417073, 17700593, 17848752, 18299612, 18443386, 18452418, 18600527, 19473056, 19530960, 19795123, 19858398, 20385995, 20665215, 20819423, 21077799, 21498394, 22490566, 23585145, 23603345, 23930673, 23942539, 24817302, 24923815, 25410891, 25677447, 25796495, 26099996, 26216193, 26265035, 26603945, 26794347, 26804652, 26846104, 27122156, 27454530, 27864592, 27995989, 28295243, 28929491, 28950804, 29134491, 29239269, 29845393, 29846282, 29889674, 30114658, 30723313, 30858516, 31382864, 32378051, 9323575, 9439663, 9470816
PA166115442	s 1 (combination)	Chemical	ClinicalAnnotation	associated	PK	PD	10803677, 11156223, 11895907, 14635116, 16115930, 18299612, 19473056, 19530960, 20819423, 21498394, 22490566, 24923815, 25410891, 25677447, 26099996, 26216193, 26265035, 26794347, 26804652, 26846104, 28614820, 29239269, 29845393, 30114658, 30723313, 30858516
PA166122058	mucositis	Disease	VariantAnnotation	associated		PD	29661620
PA166153645	rs1801158	Variant	VipGene	associated			15591715, 17848752, 17905396, 18452418, 21412232, 9721209, 14635116
PA166153646	rs1801159	Variant	VipGene	associated			15132136, 17417073, 17828463, 17848752, 17905396, 18452418, 18537153, 20665215, 9721209, 14635116
PA166153647	rs1801160	Variant	VipGene	associated			17848752, 17905396, 18452418, 19473056, 21412232, 21498394, 9721209, 17828463
PA166153648	rs1801265	Variant	VipGene	associated			14635116, 17064846, 17121937, 17375478, 17828463, 17848752, 17905396, 18452418, 19473056, 9439663, 10071185
PA166153760	rs3918290	Variant	GuidelineAnnotation, VipGene	associated			11350878, 11555601, 16328315, 17038885, 17828463, 17848752, 17905396, 18225548, 18452418, 19822137, 21412232, 23585145, 7832988, 8892022, 10071185
PA166153888	rs55886062	Variant	GuidelineAnnotation	associated
PA166153889	rs56038477	Variant	GuidelineAnnotation	associated
PA166153895	rs67376798	Variant	GuidelineAnnotation	associated
PA166153897	rs72549303	Variant	VipGene	associated			15132136, 17848752, 17905396, 18452418, 21412232, 10071185
PA166183787	fluorouracil / salicylic acid	Chemical	LabelAnnotation	associated
PA443560	Breast Neoplasms	Disease	VariantAnnotation	ambiguous	PK	PD
PA443842	Death	Disease	VariantAnnotation, VipGene	associated		PD	30831507
PA443937	Drug Toxicity	Disease	VariantAnnotation, VipGene	ambiguous		PD	20204365, 20819423, 28347776, 28395758, 28395759, 7964939
PA444352	Head and Neck Neoplasms	Disease	VariantAnnotation	ambiguous	PK	PD	7964939
PA444511	Hyperbilirubinemia	Disease	ClinicalAnnotation	associated		PD	28347776
PA444929	Mental Retardation	Disease	VipGene	associated			10071185
PA444938	Metabolic Diseases	Disease	VipGene	associated			10071185
PA444939	Metabolism, Inborn Errors	Disease	VipGene	associated			10071185
PA445062	Neoplasms	Disease	ClinicalAnnotation, VariantAnnotation	associated	PK	PD	10071185, 10234617, 10803677, 11156223, 11350878, 11555601, 11895907, 12209976, 12360106, 14635116, 15017333, 15132136, 15591715, 16115930, 16151913, 16361556, 17000685, 17064846, 17121937, 17165084, 17203168, 17417073, 17700593, 17848752, 18299612, 18443386, 18452418, 18537153, 18600527, 19473056, 19530960, 19795123, 19858398, 20204365, 20385995, 20665215, 20819423, 21077799, 21498394, 22490566, 23585145, 23603345, 23930673, 23942539, 24037119, 24434920, 24817302, 24923815, 25410891, 25677447, 25782327, 25796495, 26099996, 26216193, 26265035, 26265346, 26603945, 26792652, 26794347, 26804652, 26846104, 27122156, 27454530, 27544765, 27864592, 27995989, 28295243, 28347776, 28481884, 28614820, 28929491, 28950804, 29065426, 29134491, 29239269, 29845393, 29846282, 29889674, 30114658, 30723313, 30858516, 31382864, 32378051, 9323575, 9439663, 9470816
PA445113	Neutropenia	Disease	VariantAnnotation	associated		PD	11156223, 12209976
PA445218	Pancreatic Neoplasms	Disease	ClinicalAnnotation, VariantAnnotation	associated		PD	21487324
PA445476	Purine-Pyrimidine Metabolism, Inborn Errors	Disease	ClinicalAnnotation, VipGene	associated	PK	PD	10071185, 20819423, 9439663
PA445503	Rectal Neoplasms	Disease	VariantAnnotation	associated		PD	29661620, 30831507
PA445629	Seizures	Disease	VipGene	associated			10071185
PA446108	Colorectal Neoplasms	Disease	ClinicalAnnotation, VariantAnnotation	ambiguous		PD	20819423, 28395758, 28395759
PA446975	Neurotoxicity Syndromes	Disease	VariantAnnotation	associated		PD
PA448771	capecitabine	Chemical	ClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGene	ambiguous	PK	PD	10071185, 10803677, 11156223, 11350878, 11555601, 11895907, 12209976, 12360106, 14635116, 15017333, 15132136, 15591715, 15944764, 16115930, 16151913, 16361556, 17000685, 17064846, 17121937, 17165084, 17203168, 17417073, 17700593, 17848752, 18299612, 18443386, 18452418, 18600527, 19473056, 19530960, 19795123, 19858398, 20385995, 20665215, 20819423, 21077799, 21498394, 22490566, 23585145, 23603345, 23930673, 23942539, 23988873, 24433361, 24817302, 24923815, 25410891, 25677447, 25782327, 25796495, 26099996, 26216193, 26265035, 26265346, 26603945, 26794347, 26804652, 26846104, 27122156, 27454530, 27544765, 27864592, 27995989, 28295243, 28347776, 28481884, 28614820, 28929491, 28950804, 29065426, 29134491, 29239269, 29661620, 29845393, 29846282, 29889674, 30114658, 30723313, 30831507, 30858516, 31382864, 32378051, 9323575, 9439663, 9470816
PA449654	flucytosine	Chemical	LabelAnnotation	associated
PA450085	irinotecan	Chemical	VariantAnnotation	associated		PD	28395759
PA450198	leucovorin	Chemical	VariantAnnotation	associated		PD
PA452620	tegafur	Chemical	ClinicalAnnotation, GuidelineAnnotation, Literature, MultilinkAnnotation, VipGene	associated	PK	PD	10071185, 10803677, 11156223, 11350878, 11555601, 11895907, 12209976, 12360106, 14635116, 15017333, 15132136, 15944764, 16115930, 16151913, 16361556, 17000685, 17064846, 17121937, 17165084, 17203168, 17417073, 17700593, 17848752, 18299612, 18443386, 18452418, 18600527, 19473056, 19530960, 19795123, 19858398, 20385995, 20665215, 20819423, 21077799, 21498394, 22490566, 23585145, 23603345, 23930673, 23942539, 23988873, 24817302, 24923815, 25410891, 25677447, 25796495, 26099996, 26216193, 26265035, 26603945, 26794347, 26804652, 26846104, 27122156, 27454530, 27864592, 27995989, 28295243, 28929491, 28950804, 29134491, 29846282, 29889674, 30114658, 30723313, 30858516, 31382864, 32378051, 9323575, 9439663, 9470816
PA452621	antineoplastic agents	Chemical	ClinicalAnnotation	associated		PD	21487324

References

Pubmed ID	Year	Title	Citations
19898482	2009	Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.	84
18299612	2008	Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU Toxicity Study Group.	82
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
20530282	2010	Pharmacogenetic predictors of adverse events and response to chemotherapy in metastatic colorectal cancer: results from North American Gastrointestinal Intergroup Trial N9741.	58
22003227	2011	Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability.	58
26603945	2015	Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data.	58
24590654	2014	Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis.	57
21498394	2011	Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer.	48
17121937	2006	Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance.	46
23736036	2013	Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity.	39

Citation

Dessen P

DPYD (dihydropyrimidine dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40361/dpyd-(dihydropyrimidine-dehydrogenase)