| Gene ID | 5740 |
| Symbol | PTGIS |
| Synonymous | CYP8|CYP8A1|PGIS|PTGI |
| Full name | prostaglandin I2 (prostacyclin) synthase |
| Gene description | cytochrome P450, family 8, subfamily A, polypeptide 1|prostacyclin synthase|prostaglandin I2 synthase |
| Cytoband | 20q13.13 |
| Gene type | protein-coding |
| Synonymous | MIM:601699; HGNC:HGNC:9603; Ensembl:ENSG00000124212; HPRD:09046; Vega:OTTHUMG00000033077 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.879C>A; p.F293L; 20:49514372-49514372 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.781C>T; p.L261L; 20:49524132-49524132 |
skin | malignant_melanoma | Substitution - coding silent |
c.781C>T; p.L261L; 20:49524132-49524132 |
skin | malignant_melanoma | Substitution - coding silent |
c.175G>A; p.E59K; 20:49550089-49550089 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1432C>A; p.L478I; 20:49507991-49507991 |
pancreas | carcinoma | Substitution - Missense |
c.927C>T; p.V309V; 20:49514324-49514324 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.252C>T; p.D84D; 20:49547966-49547966 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.975G>A; p.S325S; 20:49514276-49514276 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.256G>A; p.V86M; 20:49547962-49547962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.128C>T; p.A43V; 20:49550136-49550136 |
skin | malignant_melanoma | Substitution - Missense |
c.157T>C; p.F53L; 20:49550107-49550107 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.192C>A; p.I64I; 20:49550072-49550072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.980C>T; p.T327M; 20:49514271-49514271 |
prostate | carcinoma | Substitution - Missense |
c.905A>G; p.N302S; 20:49514346-49514346 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1058C>A; p.A353D; 20:49513228-49513228 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.103G>A; p.G35S; 20:49550161-49550161 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.192C>A; p.I64I; 20:49550072-49550072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.828C>T; p.A276A; 20:49524085-49524085 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.960G>A; p.A320A; 20:49514291-49514291 |
pancreas | carcinoma | Substitution - coding silent |
c.622C>T; p.R208C; 20:49539621-49539621 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.858G>A; p.G286G; 20:49514393-49514393 |
skin | malignant_melanoma | Substitution - coding silent |
c.622C>T; p.R208C; 20:49539621-49539621 |
skin | malignant_melanoma | Substitution - Missense |
c.622C>T; p.R208C; 20:49539621-49539621 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.622C>T; p.R208C; 20:49539621-49539621 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>A; p.R249Q; 20:49524167-49524167 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.948C>T; p.I316I; 20:49514303-49514303 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.713G>A; p.W238*; 20:49524200-49524200 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Nonsense |
c.272G>A; p.R91H; 20:49547946-49547946 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1133G>A; p.R378Q; 20:49513153-49513153 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.879C>G; p.F293L; 20:49514372-49514372 |
breast | carcinoma | Substitution - Missense |
c.1012A>G; p.T338A; 20:49514239-49514239 |
pancreas | carcinoma | Substitution - Missense |
c.1132C>T; p.R378*; 20:49513154-49513154 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.1228C>T; p.L410L; 20:49511158-49511158 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.88C>T; p.P30S; 20:49550176-49550176 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.88C>T; p.P30S; 20:49550176-49550176 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.337C>A; p.P113T; 20:49547881-49547881 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1331G>T; p.R444M; 20:49511055-49511055 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.864G>T; p.M288I; 20:49514387-49514387 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.793G>A; p.E265K; 20:49524120-49524120 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.793G>A; p.E265K; 20:49524120-49524120 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.909T>A; p.P303P; 20:49514342-49514342 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.623G>A; p.R208H; 20:49539620-49539620 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1120G>A; p.E374K; 20:49513166-49513166 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.723A>G; p.L241L; 20:49524190-49524190 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.723A>G; p.L241L; 20:49524190-49524190 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.107G>A; p.S36N; 20:49550157-49550157 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1304G>A; p.G435E; 20:49511082-49511082 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.931G>A; p.G311R; 20:49514320-49514320 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.254C>T; p.A85V; 20:49547964-49547964 |
oesophagus | carcinoma | Substitution - Missense |
c.1401C>G; p.I467M; 20:49508022-49508022 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.647A>T; p.K216I; 20:49539596-49539596 |
skin | malignant_melanoma | Substitution - Missense |
c.613C>T; p.H205Y; 20:49539630-49539630 |
oesophagus | carcinoma | Substitution - Missense |
c.707G>A; p.R236H; 20:49524206-49524206 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.707G>A; p.R236H; 20:49524206-49524206 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.707G>A; p.R236H; 20:49524206-49524206 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.707G>A; p.R236H; 20:49524206-49524206 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.707G>A; p.R236H; 20:49524206-49524206 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.624C>T; p.R208R; 20:49539619-49539619 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.674G>T; p.G225V; 20:49524239-49524239 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.919G>T; p.A307S; 20:49514332-49514332 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.193T>G; p.F65V; 20:49550071-49550071 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.864G>A; p.M288I; 20:49514387-49514387 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1424A>C; p.E475A; 20:49507999-49507999 |
breast | carcinoma | Substitution - Missense |
c.501C>T; p.F167F; 20:49544325-49544325 |
oesophagus | carcinoma | Substitution - coding silent |
c.1186G>A; p.E396K; 20:49513100-49513100 |
skin | malignant_melanoma | Substitution - Missense |
c.1414G>C; p.E472Q; 20:49508009-49508009 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.974C>T; p.S325L; 20:49514277-49514277 |
skin | malignant_melanoma | Substitution - Missense |
c.522-1G>T; p.?; 20:49539722-49539722 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.555G>A; p.A185A; 20:49539688-49539688 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.217T>C; p.Y73H; 20:49548001-49548001 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.555G>A; p.A185A; 20:49539688-49539688 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.217T>C; p.Y73H; 20:49548001-49548001 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.894C>T; p.F298F; 20:49514357-49514357 |
skin; abdomen | malignant_melanoma | Substitution - coding silent |
c.1030G>A; p.V344M; 20:49513256-49513256 |
liver | carcinoma | Substitution - Missense |
c.1030G>A; p.V344M; 20:49513256-49513256 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1030G>A; p.V344M; 20:49513256-49513256 |
pancreas | carcinoma | Substitution - Missense |
c.231C>T; p.L77L; 20:49547987-49547987 |
breast | carcinoma | Substitution - coding silent |
c.1030G>A; p.V344M; 20:49513256-49513256 |
liver | carcinoma | Substitution - Missense |
c.563G>A; p.R188H; 20:49539680-49539680 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1270G>T; p.G424W; 20:49511116-49511116 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1243T>C; p.S415P; 20:49511143-49511143 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.123_124insG; p.Y42fs*22; 20:49550140-49550141 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.891C>G; p.L297L; 20:49514360-49514360 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1464G>A; p.P488P; 20:49507959-49507959 |
stomach | adenocarcinoma | Substitution - coding silent |
c.482_483insCA; p.E161fs*19; 20:49544343-49544344 |
breast | carcinoma | Insertion - Frameshift |
c.1368C>T; p.F456F; 20:49508055-49508055 |
skin | malignant_melanoma | Substitution - coding silent |
c.145G>T; p.D49Y; 20:49550119-49550119 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.723A>C; p.L241L; 20:49524190-49524190 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.356A>G; p.D119G; 20:49547862-49547862 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1331G>A; p.R444K; 20:49511055-49511055 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1499C>A; p.P500Q; 20:49507924-49507924 |
skin | malignant_melanoma | Substitution - Missense |
c.1047C>T; p.L349L; 20:49513239-49513239 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.805T>C; p.S269P; 20:49524108-49524108 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.990C>T; p.L330L; 20:49514261-49514261 |
skin; trunk | malignant_melanoma; nodular | Substitution - coding silent |
c.250G>A; p.D84N; 20:49547968-49547968 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1186G>T; p.E396*; 20:49513100-49513100 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.171G>T; p.M57I; 20:49550093-49550093 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.330G>A; p.V110V; 20:49547888-49547888 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1474G>A; p.V492M; 20:49507949-49507949 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.535A>T; p.T179S; 20:49539708-49539708 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1379T>C; p.V460A; 20:49508044-49508044 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.348C>A; p.S116R; 20:49547870-49547870 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.725C>T; p.S242F; 20:49524188-49524188 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.859A>G; p.N287D; 20:49514392-49514392 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.768G>A; p.L256L; 20:49524145-49524145 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.562C>A; p.R188S; 20:49539681-49539681 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.560C>G; p.P187R; 20:49539683-49539683 |
ovary | other; neoplasm | Substitution - Missense |
c.1290C>A; p.Y430*; 20:49511096-49511096 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.560C>G; p.P187R; 20:49539683-49539683 |
ovary | other; neoplasm | Substitution - Missense |
c.100C>A; p.L34M; 20:49550164-49550164 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.560C>G; p.P187R; 20:49539683-49539683 |
ovary | other; neoplasm | Substitution - Missense |
c.560C>G; p.P187R; 20:49539683-49539683 |
ovary | other; neoplasm | Substitution - Missense |
c.1164C>T; p.F388F; 20:49513122-49513122 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.674G>A; p.G225E; 20:49524239-49524239 |
skin | malignant_melanoma | Substitution - Missense |
c.1093C>A; p.L365M; 20:49513193-49513193 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1306delG; p.A436fs*31; 20:49511080-49511080 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.544G>A; p.G182R; 20:49539699-49539699 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.737T>A; p.L246Q; 20:49524176-49524176 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1025-1G>A; p.?; 20:49513262-49513262 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.1488C>A; p.Y496*; 20:49507935-49507935 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.255G>A; p.A85A; 20:49547963-49547963 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.481G>A; p.E161K; 20:49544345-49544345 |
skin | malignant_melanoma | Substitution - Missense |
c.1076G>A; p.R359H; 20:49513210-49513210 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.225C>T; p.T75T; 20:49547993-49547993 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1006G>A; p.D336N; 20:49514245-49514245 |
skin | malignant_melanoma | Substitution - Missense |
c.1071C>T; p.I357I; 20:49513215-49513215 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.932G>A; p.G311E; 20:49514319-49514319 |
skin | malignant_melanoma | Substitution - Missense |
c.1118G>A; p.R373Q; 20:49513168-49513168 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1118G>A; p.R373Q; 20:49513168-49513168 |
skin | malignant_melanoma | Substitution - Missense |
c.1118G>A; p.R373Q; 20:49513168-49513168 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1310G>A; p.G437E; 20:49511076-49511076 |
liver | carcinoma | Substitution - Missense |
c.171G>A; p.M57I; 20:49550093-49550093 |
skin | malignant_melanoma | Substitution - Missense |
c.1310G>A; p.G437E; 20:49511076-49511076 |
liver | carcinoma | Substitution - Missense |
c.278G>T; p.R93M; 20:49547940-49547940 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1161C>T; p.P387P; 20:49513125-49513125 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.926T>A; p.V309D; 20:49514325-49514325 |
skin | malignant_melanoma | Substitution - Missense |
c.1483C>T; p.R495C; 20:49507940-49507940 |
prostate | carcinoma | Substitution - Missense |
c.725C>A; p.S242Y; 20:49524188-49524188 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.939C>T; p.L313L; 20:49514312-49514312 |
skin | malignant_melanoma | Substitution - coding silent |
c.1113C>T; p.D371D; 20:49513173-49513173 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1113C>T; p.D371D; 20:49513173-49513173 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1004T>C; p.L335P; 20:49514247-49514247 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1467A>T; p.E489D; 20:49507956-49507956 |
breast | carcinoma | Substitution - Missense |