| Gene ID | 2356 |
| Symbol | FPGS |
| Synonymous | - |
| Full name | folylpolyglutamate synthase |
| Gene description | folylpoly-gamma-glutamate synthetase|folylpolyglutamate synthase, mitochondrial|tetrahydrofolate synthase|tetrahydrofolylpolyglutamate synthase |
| Cytoband | 9q34.1 |
| Gene type | protein-coding |
| Synonymous | MIM:136510; HGNC:HGNC:3824; Ensembl:ENSG00000136877; HPRD:00642; Vega:OTTHUMG00000020716 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.133T>G; p.Y45D; 9:127803057-127803057 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.428A>G; p.N143S; 9:127807014-127807014 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.428A>G; p.N143S; 9:127807014-127807014 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.228G>T; p.L76F; 9:127804374-127804374 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.416G>A; p.R139Q; 9:127807002-127807002 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1219G>A; p.E407K; 9:127810038-127810038 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.145G>A; p.V49M; 9:127804291-127804291 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1618C>T; p.P540S; 9:127813458-127813458 |
breast | carcinoma | Substitution - Missense |
c.842C>T; p.P281L; 9:127808577-127808577 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1328C>A; p.T443K; 9:127810985-127810985 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.567C>T; p.F189F; 9:127807274-127807274 |
skin | malignant_melanoma | Substitution - coding silent |
c.855C>G; p.A285A; 9:127808590-127808590 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.311C>T; p.T104M; 9:127804542-127804542 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.259G>T; p.G87W; 9:127804405-127804405 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.311C>T; p.T104M; 9:127804542-127804542 |
liver | carcinoma | Substitution - Missense |
c.311C>T; p.T104M; 9:127804542-127804542 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.204G>A; p.Q68Q; 9:127804350-127804350 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.207G>T; p.R69R; 9:127804353-127804353 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.201C>T; p.R67R; 9:127804347-127804347 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.200G>T; p.R67L; 9:127804346-127804346 |
pancreas | carcinoma | Substitution - Missense |
c.916G>A; p.A306T; 9:127808651-127808651 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1434C>G; p.D478E; 9:127813274-127813274 |
skin | malignant_melanoma | Substitution - Missense |
c.1158G>C; p.Q386H; 9:127809781-127809781 |
thyroid | other; neoplasm | Substitution - Missense |
c.210T>G; p.G70G; 9:127804356-127804356 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.876G>A; p.P292P; 9:127808611-127808611 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.297C>T; p.I99I; 9:127804528-127804528 |
skin | malignant_melanoma | Substitution - coding silent |
c.1529G>A; p.C510Y; 9:127813369-127813369 |
breast | carcinoma | Substitution - Missense |
c.64A>G; p.I22V; 9:127802988-127802988 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.64A>G; p.I22V; 9:127802988-127802988 |
thyroid | other; neoplasm | Substitution - Missense |
c.64A>G; p.I22V; 9:127802988-127802988 |
thyroid | other; neoplasm | Substitution - Missense |
c.64A>G; p.I22V; 9:127802988-127802988 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.203A>G; p.Q68R; 9:127804349-127804349 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1483G>A; p.G495S; 9:127813323-127813323 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1656T>C; p.S552S; 9:127813496-127813496 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.670C>T; p.L224F; 9:127807614-127807614 |
skin | malignant_melanoma | Substitution - Missense |
c.487C>A; p.L163M; 9:127807073-127807073 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1393C>T; p.L465F; 9:127813233-127813233 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.882C>T; p.T294T; 9:127808617-127808617 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1552A>G; p.S518G; 9:127813392-127813392 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1639C>G; p.H547D; 9:127813479-127813479 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1639C>G; p.H547D; 9:127813479-127813479 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.143C>T; p.A48V; 9:127804289-127804289 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1225C>G; p.R409G; 9:127810044-127810044 |
pancreas | carcinoma | Substitution - Missense |
c.1553G>A; p.S518N; 9:127813393-127813393 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.472C>T; p.R158C; 9:127807058-127807058 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.611G>A; p.G204D; 9:127807452-127807452 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.473G>A; p.R158H; 9:127807059-127807059 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1491C>T; p.S497S; 9:127813331-127813331 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.679G>A; p.D227N; 9:127807623-127807623 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.191A>G; p.Q64R; 9:127804337-127804337 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.199C>A; p.R67S; 9:127804345-127804345 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.152T>C; p.M51T; 9:127804298-127804298 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.422G>A; p.R141H; 9:127807008-127807008 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1425C>G; p.N475K; 9:127813265-127813265 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.206G>A; p.R69Q; 9:127804352-127804352 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.365G>A; p.G122D; 9:127804679-127804679 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.612C>T; p.G204G; 9:127807453-127807453 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.479A>G; p.Y160C; 9:127807065-127807065 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.205C>G; p.R69G; 9:127804351-127804351 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1750G>T; p.A584S; 9:127813590-127813590 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1249G>A; p.G417R; 9:127810068-127810068 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1351G>A; p.A451T; 9:127811008-127811008 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.284G>A; p.R95Q; 9:127804515-127804515 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.166C>T; p.Q56*; 9:127804312-127804312 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.544A>G; p.T182A; 9:127807251-127807251 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1517C>A; p.P506Q; 9:127813357-127813357 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1666A>G; p.I556V; 9:127813506-127813506 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1666A>G; p.I556V; 9:127813506-127813506 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.700G>A; p.D234N; 9:127807644-127807644 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.700G>A; p.D234N; 9:127807644-127807644 |
skin | malignant_melanoma | Substitution - Missense |
c.147G>A; p.V49V; 9:127804293-127804293 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.147G>A; p.V49V; 9:127804293-127804293 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1553G>T; p.S518I; 9:127813393-127813393 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1671_1672CC>TT; p.R558C; 9:127813511-127813512 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.963C>T; p.D321D; 9:127808698-127808698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.202C>A; p.Q68K; 9:127804348-127804348 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1688T>G; p.I563S; 9:127813528-127813528 |
breast | carcinoma | Substitution - Missense |
c.1005C>T; p.L335L; 9:127808834-127808834 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.243G>A; p.L81L; 9:127804389-127804389 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.523C>T; p.P175S; 9:127807230-127807230 |
skin | malignant_melanoma | Substitution - Missense |
c.321+2T>G; p.?; 9:127804554-127804554 |
breast | carcinoma | Unknown |
c.356G>A; p.R119Q; 9:127804670-127804670 |
pancreas | carcinoma | Substitution - Missense |
c.1591C>T; p.R531*; 9:127813431-127813431 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |