| Gene ID | 5731 |
| Symbol | PTGER1 |
| Synonymous | EP1 |
| Full name | prostaglandin E receptor 1 (subtype EP1), 42kDa |
| Gene description | PGE receptor EP1 subtype|PGE receptor, EP1 subtype|PGE2 receptor EP1 subtype|prostaglandin E receptor 1 (subtype EP1), 42kD|prostaglandin E receptor 1, subtype EP1|prostaglandin E2 receptor EP1 subtype|prostanoid EP1 receptor |
| Cytoband | 19p13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:176802; HGNC:HGNC:9593; Ensembl:ENSG00000160951; HPRD:08903; Vega:OTTHUMG00000039610 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1048G>A; p.V350M; 19:14472721-14472721 |
breast | carcinoma | Substitution - Missense |
c.812C>T; p.S271L; 19:14473509-14473509 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.856C>T; p.R286C; 19:14473465-14473465 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1190G>A; p.S397N; 19:14472579-14472579 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1117A>C; p.K373Q; 19:14472652-14472652 |
skin | malignant_melanoma | Substitution - Missense |
c.1184G>A; p.R395Q; 19:14472585-14472585 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.882G>C; p.E294D; 19:14473439-14473439 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma; cortisol_producing | Substitution - Missense |
c.999G>A; p.L333L; 19:14472770-14472770 |
breast | carcinoma | Substitution - coding silent |
c.1033A>T; p.I345F; 19:14472736-14472736 |
liver | carcinoma | Substitution - Missense |
c.1007C>T; p.A336V; 19:14472762-14472762 |
skin | malignant_melanoma | Substitution - Missense |
c.1033A>T; p.I345F; 19:14472736-14472736 |
liver | carcinoma | Substitution - Missense |
c.1035_1044del10; p.L346fs*33; 19:14472725-14472734 |
breast | carcinoma | Deletion - Frameshift |
c.940C>A; p.L314M; 19:14473381-14473381 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1141C>G; p.L381V; 19:14472628-14472628 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |