| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 5724 |
Name | PTAFR |
Synonymous | platelet-activating factor receptor;PTAFR;platelet-activating factor receptor |
Definition | PAF-R |
Position | 1p35-p34.3 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.390C>T; p.T130T; 1:28150632-28150632 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.397C>T; p.R133C; 1:28150625-28150625 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.397C>T; p.R133C; 1:28150625-28150625 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.397C>T; p.R133C; 1:28150625-28150625 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.397C>T; p.R133C; 1:28150625-28150625 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.397C>T; p.R133C; 1:28150625-28150625 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.171G>A; p.V57V; 1:28150851-28150851 |
skin | malignant_melanoma | Substitution - coding silent |
c.801C>T; p.F267F; 1:28150221-28150221 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.420C>T; p.V140V; 1:28150602-28150602 |
skin | malignant_melanoma | Substitution - coding silent |
c.177C>T; p.L59L; 1:28150845-28150845 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.51C>G; p.L17L; 1:28150971-28150971 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.119T>C; p.F40S; 1:28150903-28150903 |
liver | carcinoma | Substitution - Missense |
c.183G>C; p.M61I; 1:28150839-28150839 |
breast | carcinoma | Substitution - Missense |
c.865G>C; p.D289H; 1:28150157-28150157 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.660G>A; p.Q220Q; 1:28150362-28150362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.810C>A; p.A270A; 1:28150212-28150212 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.810C>A; p.A270A; 1:28150212-28150212 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.940A>C; p.S314R; 1:28150082-28150082 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.257C>A; p.P86H; 1:28150765-28150765 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.257C>A; p.P86H; 1:28150765-28150765 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.39C>T; p.F13F; 1:28150983-28150983 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.802C>T; p.H268Y; 1:28150220-28150220 |
skin | malignant_melanoma | Substitution - Missense |
c.630C>T; p.I210I; 1:28150392-28150392 |
skin | malignant_melanoma | Substitution - coding silent |
c.333C>T; p.I111I; 1:28150689-28150689 |
skin | malignant_melanoma | Substitution - coding silent |
c.10C>T; p.H4Y; 1:28151012-28151012 |
NS | NS | Substitution - Missense |
c.865G>T; p.D289Y; 1:28150157-28150157 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.104A>G; p.Y35C; 1:28150918-28150918 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.859G>C; p.V287L; 1:28150163-28150163 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.57G>A; p.P19P; 1:28150965-28150965 |
breast | carcinoma | Substitution - coding silent |
c.57G>A; p.P19P; 1:28150965-28150965 |
skin | malignant_melanoma | Substitution - coding silent |
c.365C>T; p.P122L; 1:28150657-28150657 |
skin | malignant_melanoma | Substitution - Missense |
c.713T>C; p.L238S; 1:28150309-28150309 |
pancreas | carcinoma | Substitution - Missense |
c.374C>A; p.T125N; 1:28150648-28150648 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.958G>A; p.A320T; 1:28150064-28150064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.664C>T; p.R222C; 1:28150358-28150358 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.612C>A; p.F204L; 1:28150410-28150410 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.151G>T; p.E51*; 1:28150871-28150871 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.425G>T; p.W142L; 1:28150597-28150597 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.51C>A; p.L17L; 1:28150971-28150971 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.763T>C; p.W255R; 1:28150259-28150259 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.930C>G; p.S310R; 1:28150092-28150092 |
pancreas | carcinoma | Substitution - Missense |
c.312T>C; p.S104S; 1:28150710-28150710 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.99T>A; p.N33K; 1:28150923-28150923 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.683G>A; p.R228H; 1:28150339-28150339 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.982G>A; p.V328M; 1:28150040-28150040 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.223G>A; p.V75I; 1:28150799-28150799 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.807G>T; p.Q269H; 1:28150215-28150215 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.358A>G; p.T120A; 1:28150664-28150664 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.273C>T; p.N91N; 1:28150749-28150749 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.795C>G; p.S265R; 1:28150227-28150227 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1005C>T; p.I335I; 1:28150017-28150017 |
skin | malignant_melanoma | Substitution - coding silent |
c.252A>G; p.I84M; 1:28150770-28150770 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1025delA; p.N342fs?; 1:28149997-28149997 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma | Deletion - Frameshift |
c.735C>T; p.F245F; 1:28150287-28150287 |
skin | malignant_melanoma | Substitution - coding silent |
c.735C>T; p.F245F; 1:28150287-28150287 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.332T>G; p.I111S; 1:28150690-28150690 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.671C>A; p.A224D; 1:28150351-28150351 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.671C>A; p.A224D; 1:28150351-28150351 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.671C>A; p.A224D; 1:28150351-28150351 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.916G>A; p.E306K; 1:28150106-28150106 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.414C>T; p.S138S; 1:28150608-28150608 |
skin | malignant_melanoma | Substitution - coding silent |
c.456C>T; p.F152F; 1:28150566-28150566 |
skin | malignant_melanoma | Substitution - coding silent |
c.716C>T; p.A239V; 1:28150306-28150306 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.716C>T; p.A239V; 1:28150306-28150306 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.716C>T; p.A239V; 1:28150306-28150306 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.716C>T; p.A239V; 1:28150306-28150306 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.716C>T; p.A239V; 1:28150306-28150306 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.619C>A; p.L207M; 1:28150403-28150403 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.391C>T; p.R131C; 1:28150631-28150631 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.281G>A; p.G94D; 1:28150741-28150741 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.516C>T; p.R172R; 1:28150506-28150506 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1026T>G; p.N342K; 1:28149996-28149996 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.690G>A; p.A230A; 1:28150332-28150332 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.690G>A; p.A230A; 1:28150332-28150332 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1016C>T; p.S339F; 1:28150006-28150006 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.1016C>T; p.S339F; 1:28150006-28150006 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.943C>T; p.R315W; 1:28150079-28150079 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.363G>A; p.R121R; 1:28150659-28150659 |
skin | malignant_melanoma | Substitution - coding silent |
c.389C>T; p.T130I; 1:28150633-28150633 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.205A>C; p.T69P; 1:28150817-28150817 |
thyroid | other; neoplasm | Substitution - Missense |
c.532G>A; p.E178K; 1:28150490-28150490 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.532G>A; p.E178K; 1:28150490-28150490 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.711C>T; p.V237V; 1:28150311-28150311 |
skin | malignant_melanoma | Substitution - coding silent |
c.265C>T; p.L89L; 1:28150757-28150757 |
skin | malignant_melanoma | Substitution - coding silent |
c.935G>A; p.R312H; 1:28150087-28150087 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |