| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1806 |
Name | DPYD |
Synonymous | DHP|DHPDHASE|DPD;dihydropyrimidine dehydrogenase;DPYD;dihydropyrimidine dehydrogenase |
Definition | dihydropyrimidine dehydrogenase [NADP+]|dihydrothymine dehydrogenase|dihydrouracil dehydrogenase |
Position | 1p22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for DPYD | ||
PCGP somatic mutation [Top] | ||
There is no record for DPYD | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2418C>T; p.L806L; |
skin; arm | malignant_melanoma |
c.2365C>T; p.P789S; |
NS | malignant_melanoma |
c.2365C>T; p.P789S; |
NS | malignant_melanoma |
c.923A>T; p.D308V; 1:97833238-97833238 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2315C>T; p.P772L; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.653A>C; p.E218A; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2383G>A; p.G795R; |
skin; upper_arm | malignant_melanoma |
c.2767G>A; p.D923N; |
NS | malignant_melanoma |
c.2228G>A; p.G743E; |
NS | malignant_melanoma |
c.2767G>A; p.D923N; |
NS | malignant_melanoma |
c.2228G>A; p.G743E; |
NS | malignant_melanoma |
c.1993C>T; p.L665L; |
NS | malignant_melanoma |
c.1993C>T; p.L665L; |
NS | malignant_melanoma |
c.2412G>C; p.Q804H; |
lung | carcinoma; small_cell_carcinoma |
c.1682G>A; p.R561Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.31G>A; p.D11N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.334G>A; p.A112T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1682G>A; p.R561Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1018G>T; p.A340S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.802C>T; p.L268F; |
stomach | carcinoma; intestinal_adenocarcinoma |
c.498G>A; p.M166I; |
skin | malignant_melanoma |
c.2897C>A; p.S966Y; 1:97320484-97320484 |
breast | carcinoma; ductal_carcinoma |
c.574C>G; p.L192V; |
liver | carcinoma |
c.2619C>G; p.D873E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1229G>A; p.R410Q; |
oesophagus | carcinoma; adenocarcinoma |
c.2126A>G; p.K709R; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2434G>A; p.V812I; |
oesophagus | carcinoma; adenocarcinoma |
c.471A>C; p.Q157H; |
oesophagus | carcinoma; adenocarcinoma |
c.1412C>G; p.T471S; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2660A>G; p.K887R; |
oesophagus | carcinoma; adenocarcinoma |
c.642C>G; p.I214M; |
oesophagus | carcinoma; adenocarcinoma |
c.1658C>G; p.P553R; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2011T>G; p.C671G; 1:97611752-97611752 |
breast | carcinoma; HER-positive_carcinoma |
c.2011T>G; p.C671G; 1:97611752-97611752 |
breast | carcinoma; ductal_carcinoma |
c.2695G>T; p.E899*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1475C>T; p.S492L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2532A>G; p.E844E; |
liver | carcinoma |
c.2444T>A; p.V815E; |
large_intestine; colon | carcinoma |
c.3029C>A; p.P1010H; |
large_intestine; colon | carcinoma |
c.567G>T; p.K189N; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.3043A>T; p.R1015*; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell |
c.1250G>A; p.G417E; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.648A>C; p.I216I; |
lung | carcinoma; adenocarcinoma |
c.1706G>C; p.G569A; |
lung | carcinoma; adenocarcinoma |
c.2239G>C; p.D747H; |
lung | carcinoma; adenocarcinoma |
c.1077G>C; p.V359V; |
lung | carcinoma; adenocarcinoma |
c.2795T>C; p.L932P; |
lung | carcinoma; adenocarcinoma |
c.1822C>T; p.L608L; |
lung | carcinoma; adenocarcinoma |
c.2869G>T; p.G957C; |
lung | carcinoma; adenocarcinoma |
c.871G>A; p.D291N; |
NS | malignant_melanoma |
c.1487G>A; p.G496E; |
skin; trunk | malignant_melanoma |
c.2347C>T; p.R783C; |
NS | malignant_melanoma |
c.3044G>A; p.R1015K; |
skin; trunk | malignant_melanoma |
c.1850C>T; p.T617M; |
large_intestine; caecum | adenoma |
c.2351C>G; p.A784G; |
thyroid | carcinoma; medullary_carcinoma |
c.2546G>T; p.W849L; |
autonomic_ganglia | neuroblastoma |
c.3072G>T; p.V1024V; |
prostate | carcinoma |
c.441G>T; p.E147D; |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_IV |
c.2655G>C; p.Q885H; |
prostate | carcinoma |
c.2426G>T; p.G809V; |
lung | carcinoma; small_cell_carcinoma |
c.743T>A; p.M248K; |
lung | carcinoma; small_cell_carcinoma |
c.2942C>A; p.T981N; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1386A>C; p.P462P; 1:97787842-97787842 |
ovary | carcinoma; serous_carcinoma |
c.1574A>G; p.Y525C; |
lung | carcinoma; adenocarcinoma |
c.1996G>T; p.E666*; |
lung | carcinoma; adenocarcinoma |
c.755G>T; p.G252V; 1:97929868-97929868 |
ovary | carcinoma; serous_carcinoma |
c.1524+2T>A; p.?; 1:97787702-97787702 |
ovary | carcinoma; serous_carcinoma |
c.1123G>A; p.E375K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1373G>A; p.R458K; |
lung | carcinoma; squamous_cell_carcinoma |
c.2895T>C; p.D965D; |
lung | carcinoma; squamous_cell_carcinoma |
c.967G>C; p.A323P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1339+1G>C; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.2112T>G; p.I704M; |
lung | carcinoma; squamous_cell_carcinoma |
c.232A>T; p.R78*; |
ovary | carcinoma; serous_carcinoma |
c.968C>A; p.A323D; |
lung | carcinoma; adenocarcinoma |
c.526C>T; p.L176L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1615G>C; p.G539R; |
lung | carcinoma; adenocarcinoma |
c.1022G>A; p.G341E; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1681C>T; p.R561*; |
lung | carcinoma; adenocarcinoma |
c.942C>G; p.A314A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1369A>T; p.N457Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.942C>G; p.A314A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1369A>T; p.N457Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.331G>A; p.G111R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2600G>T; p.R867L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.732G>T; p.E244D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1096G>A; p.G366S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1097G>T; p.G366V; |
lung | carcinoma; squamous_cell_carcinoma |
c.486A>G; p.V162V; |
ovary | carcinoma; serous_carcinoma |
c.1180C>A; p.R394R; |
ovary | carcinoma; serous_carcinoma |
c.1483G>A; p.D495N; |
lung | carcinoma; adenocarcinoma |
c.2593G>T; p.V865F; |
lung | carcinoma; adenocarcinoma |
c.2835G>T; p.V945V; |
lung | carcinoma; squamous_cell_carcinoma |
c.2350G>T; p.A784S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2623A>C; p.K875Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1985C>T; p.A662V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1615G>A; p.G539R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1249G>T; p.G417*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2269G>A; p.A757T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1149A>G; p.E383E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1010T>C; p.V337A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3023C>A; p.T1008K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.496A>G; p.M166V; |
breast | carcinoma |
c.2522A>T; p.K841I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1893C>A; p.D631E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1381C>A; p.L461I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.49G>A; p.A17T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1310C>T; p.A437V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1003G>A; p.V335M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2980A>G; p.S994G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2909C>A; p.A970D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1181G>A; p.R394Q; |
large_intestine; colon | NS |
c.450T>C; p.I150I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2394T>C; p.S798S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.574C>T; p.L192F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1681C>T; p.R561*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.879C>A; p.I293I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1560A>C; p.E520D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3037C>T; p.P1013S; |
large_intestine | NS |
c.1543G>A; p.V515I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.427T>G; p.Y143D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2667C>A; p.I889I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3029C>A; p.P1010H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2926G>T; p.E976*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1661C>T; p.A554V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2214C>A; p.V738V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1229G>A; p.R410Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2630C>A; p.P877Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.128G>T; p.R43I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2150T>G; p.I717S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1198G>T; p.G400C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1003G>A; p.V335M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1887G>T; p.K629N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2865C>A; p.N955K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1084G>A; p.V362I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1760C>T; p.S587F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.497T>A; p.M166K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2193C>T; p.G731G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.46C>A; p.L16M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2981G>A; p.S994N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2897C>A; p.S966Y; 1:97320484-97320484 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.424T>G; p.L142V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2161G>A; p.A721T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.390T>C; p.C130C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2074C>T; p.R692W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1339G>T; p.V447L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2691G>A; p.L897L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.102G>C; p.K34N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2695G>T; p.E899*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1965G>T; p.K655N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.148T>G; p.F50V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1475C>T; p.S492L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.26C>T; p.S9L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1229G>A; p.R410Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.680G>A; p.S227N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.844G>T; p.G282*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.452A>C; p.N151T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1132G>T; p.E378*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.600A>G; p.I200M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2683A>G; p.I895V; |
prostate | carcinoma; adenocarcinoma |
c.2185G>A; p.A729T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2013T>C; p.C671C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.189G>T; p.K63N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.754G>T; p.G252C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2013T>C; p.C671C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1385C>T; p.P462L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2858G>A; p.C953Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.283C>A; p.L95I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1386A>G; p.P462P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.754G>A; p.G252S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.990G>A; p.S330S; |
breast | carcinoma |
c.2600G>T; p.R867L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.819A>C; p.E273D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.756T>C; p.G252G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2011T>C; p.C671R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.575T>C; p.L192P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2756C>T; p.P919L; |
prostate | carcinoma; adenocarcinoma |
c.2896T>C; p.S966P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1562T>A; p.L521Q; |
urinary_tract; bladder | carcinoma |
c.1149A>G; p.E383E; |
urinary_tract; bladder | carcinoma |
c.1384C>A; p.P462T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.367G>T; p.G123C; |
urinary_tract; bladder | carcinoma |
c.2644T>C; p.Y882H; |
prostate | carcinoma |
c.1615G>A; p.G539R; |
prostate | carcinoma |
c.233+1G>T; p.?; |
prostate | carcinoma |
c.3012G>A; p.M1004I; |
skin | malignant_melanoma |
c.1373G>A; p.R458K; |
skin; acral | malignant_melanoma |
c.2114C>T; p.P705L; |
skin | malignant_melanoma |
c.2551G>A; p.G851R; |
skin | malignant_melanoma |
c.2617G>A; p.D873N; |
skin | malignant_melanoma |
c.1945G>A; p.D649N; |
skin | malignant_melanoma |
c.2026G>A; p.G676R; |
skin | malignant_melanoma |
c.611C>T; p.S204F; |
skin | malignant_melanoma |
c.611C>T; p.S204F; |
skin; upper_leg | malignant_melanoma |
c.2777G>A; p.G926E; |
skin | malignant_melanoma |
c.1113A>T; p.R371S; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.1096G>C; p.G366R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |