| Gene ID | 7372 |
| Symbol | UMPS |
| Synonymous | OPRT |
| Full name | uridine monophosphate synthetase |
| Gene description | OMPdecase|OPRTase|UMP synthase|orotate phosphoribosyltransferase|orotidine 5'-phosphate decarboxylase|uridine 5'-monophosphate synthase |
| Cytoband | 3q13 |
| Gene type | protein-coding |
| Synonymous | MIM:613891; HGNC:HGNC:12563; Ensembl:ENSG00000114491; HPRD:02022; Vega:OTTHUMG00000159431 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.13C>G; p.R5G; 3:124730484-124730484 |
breast | carcinoma | Substitution - Missense |
c.941A>C; p.K314T; 3:124738198-124738198 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.675C>G; p.L225L; 3:124737932-124737932 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.137G>A; p.R46Q; 3:124730608-124730608 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1222A>T; p.M408L; 3:124742215-124742215 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.700C>G; p.P234A; 3:124737957-124737957 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1285G>A; p.G429S; 3:124743926-124743926 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.213G>T; p.V71V; 3:124735149-124735149 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1040G>T; p.G347V; 3:124740081-124740081 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1352G>A; p.R451H; 3:124743993-124743993 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.760C>T; p.L254L; 3:124738017-124738017 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1098C>T; p.L366L; 3:124740139-124740139 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - coding silent |
c.550G>A; p.E184K; 3:124737807-124737807 |
liver | carcinoma | Substitution - Missense |
c.550G>A; p.E184K; 3:124737807-124737807 |
liver | carcinoma | Substitution - Missense |
c.372_374delTGT; p.V126delV; 3:124737629-124737631 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.372_374delTGT; p.V126delV; 3:124737629-124737631 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.14G>T; p.R5L; 3:124730485-124730485 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1171G>A; p.E391K; 3:124742164-124742164 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206A>T; p.D69V; 3:124735142-124735142 |
skin | malignant_melanoma | Substitution - Missense |
c.547C>T; p.L183F; 3:124737804-124737804 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.644C>T; p.P215L; 3:124737901-124737901 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1066G>T; p.E356*; 3:124740107-124740107 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.843G>C; p.K281N; 3:124738100-124738100 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1066G>T; p.E356*; 3:124740107-124740107 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.295G>C; p.E99Q; 3:124735231-124735231 |
oesophagus | carcinoma | Substitution - Missense |
c.953T>A; p.I318K; 3:124738210-124738210 |
kidney | other; neoplasm | Substitution - Missense |
c.713C>T; p.P238L; 3:124737970-124737970 |
skin | malignant_melanoma | Substitution - Missense |
c.505C>T; p.R169C; 3:124737762-124737762 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.638G>C; p.G213A; 3:124737895-124737895 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1351C>T; p.R451C; 3:124743992-124743992 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.159T>C; p.V53V; 3:124735095-124735095 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1351C>T; p.R451C; 3:124743992-124743992 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.894G>C; p.L298F; 3:124738151-124738151 |
breast | carcinoma | Substitution - Missense |
c.811G>C; p.D271H; 3:124738068-124738068 |
breast | carcinoma | Substitution - Missense |
c.1375C>T; p.R459C; 3:124744016-124744016 |
skin; leg | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.1180T>A; p.S394T; 3:124742173-124742173 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.670G>T; p.E224*; 3:124737927-124737927 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1337T>G; p.I446S; 3:124743978-124743978 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.615C>A; p.V205V; 3:124737872-124737872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.195C>T; p.G65G; 3:124735131-124735131 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.708C>T; p.I236I; 3:124737965-124737965 |
skin | malignant_melanoma | Substitution - coding silent |
c.1320C>T; p.G440G; 3:124743961-124743961 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1320C>T; p.G440G; 3:124743961-124743961 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.937C>T; p.R313W; 3:124738194-124738194 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.913C>T; p.H305Y; 3:124738170-124738170 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.913C>T; p.H305Y; 3:124738170-124738170 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.528G>A; p.L176L; 3:124737785-124737785 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1282C>A; p.L428I; 3:124743923-124743923 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.137G>T; p.R46L; 3:124730608-124730608 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.7G>T; p.V3F; 3:124730478-124730478 |
skin; leg | malignant_melanoma | Substitution - Missense |
c.1325G>A; p.R442Q; 3:124743966-124743966 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.369A>G; p.E123E; 3:124737626-124737626 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1209C>T; p.G403G; 3:124742202-124742202 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.377T>C; p.V126A; 3:124737634-124737634 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1308A>C; p.Q436H; 3:124743949-124743949 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.29C>T; p.P10L; 3:124730500-124730500 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.94C>G; p.L32V; 3:124730565-124730565 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.70G>T; p.G24W; 3:124730541-124730541 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1332C>T; p.S444S; 3:124743973-124743973 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.100T>C; p.S34P; 3:124730571-124730571 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1242C>T; p.H414H; 3:124742235-124742235 |
oesophagus | carcinoma | Substitution - coding silent |
c.831C>T; p.I277I; 3:124738088-124738088 |
thyroid | other; neoplasm | Substitution - coding silent |
c.702C>T; p.P234P; 3:124737959-124737959 |
bone; pelvis | chondrosarcoma | Substitution - coding silent |
c.888G>T; p.K296N; 3:124738145-124738145 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.931G>A; p.E311K; 3:124738188-124738188 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.681C>T; p.F227F; 3:124737938-124737938 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.681C>T; p.F227F; 3:124737938-124737938 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.681C>T; p.F227F; 3:124737938-124737938 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.1372G>C; p.D458H; 3:124744013-124744013 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8_9delTC; p.V3fs*66; 3:124730479-124730480 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.1223T>G; p.M408R; 3:124742216-124742216 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.78C>T; p.F26F; 3:124730549-124730549 |
breast | carcinoma | Substitution - coding silent |
c.645C>T; p.P215P; 3:124737902-124737902 |
skin | malignant_melanoma | Substitution - coding silent |
c.169T>G; p.L57V; 3:124735105-124735105 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.405T>G; p.T135T; 3:124737662-124737662 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1376G>A; p.R459H; 3:124744017-124744017 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1087C>T; p.R363W; 3:124740128-124740128 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1087C>T; p.R363W; 3:124740128-124740128 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |