Entrez Gene

Basic Information
Gene ID	27043
Name	PELP1
Synonymous	proline, glutamate and leucine rich protein 1;PELP1;proline, glutamate and leucine rich protein 1
Definition	modulator of non-genomic activity of estrogen receptor\|proline and glutamic acid rich nuclear protein\|proline-, glutamic acid- and leucine-rich protein 1\|transcription factor HMX3
Position	17p13.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.1524G>A; p.L508L; 17:4674857-4674857	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1621C>T; p.P541S; 17:4674621-4674621	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2368C>T; p.L790F; 17:4672773-4672773	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1268A>C; p.H423P; 17:4675313-4675313	breast	carcinoma	Substitution - Missense
c.1961C>T; p.A654V; 17:4673284-4673284	breast	carcinoma	Substitution - Missense
c.2240C>T; p.S747L; 17:4672901-4672901	breast	carcinoma	Substitution - Missense
c.441A>T; p.A147A; 17:4691401-4691401	breast	carcinoma	Substitution - coding silent
c.1364T>C; p.V455A; 17:4675139-4675139	breast	carcinoma	Substitution - Missense
c.1532A>C; p.H511P; 17:4674849-4674849	breast	carcinoma	Substitution - Missense
c.2155G>T; p.G719C; 17:4672986-4672986	breast	carcinoma	Substitution - Missense
c.1993G>C; p.E665Q; 17:4673252-4673252	breast	carcinoma	Substitution - Missense
c.1583C>A; p.P528Q; 17:4674659-4674659	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1341G>C; p.L447L; 17:4675162-4675162	central_nervous_system; brain	glioma	Substitution - coding silent
c.1823G>A; p.G608D; 17:4673422-4673422	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3053C>A; p.A1018E; 17:4672088-4672088	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3480C>T; p.A1160A; 17:4671502-4671502	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.467T>G; p.F156C; 17:4690991-4690991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2240C>T; p.S747L; 17:4672901-4672901	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.794G>A; p.G265D; 17:4676811-4676811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3220C>T; p.P1074S; 17:4671921-4671921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1439A>T; p.K480M; 17:4674942-4674942	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1871G>A; p.R624H; 17:4673374-4673374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1413G>T; p.E471D; 17:4675090-4675090	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1219-6C>A; p.?; 17:4675368-4675368	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.3202C>T; p.R1068C; 17:4671939-4671939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1125G>A; p.M375I; 17:4676041-4676041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1524G>A; p.L508L; 17:4674857-4674857	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1920G>A; p.P640P; 17:4673325-4673325	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3354G>A; p.E1118E; 17:4671787-4671787	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2434A>G; p.R812G; 17:4672707-4672707	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2540C>T; p.P847L; 17:4672601-4672601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2880T>A; p.F960L; 17:4672261-4672261	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3108G>A; p.L1036L; 17:4672033-4672033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.779G>A; p.C260Y; 17:4682515-4682515	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2141C>T; p.P714L; 17:4673000-4673000	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1628C>T; p.A543V; 17:4674614-4674614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2129T>C; p.F710S; 17:4673012-4673012	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1879C>T; p.R627C; 17:4673366-4673366	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2364C>T; p.P788P; 17:4672777-4672777	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1862C>T; p.T621M; 17:4673383-4673383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.595G>A; p.E199K; 17:4682928-4682928	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1084C>T; p.R362W; 17:4676082-4676082	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1084C>T; p.R362W; 17:4676082-4676082	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2997_2999delGGA; p.E999delE; 17:4672142-4672144	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1084C>T; p.R362W; 17:4676082-4676082	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1379G>A; p.S460N; 17:4675124-4675124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1433G>A; p.R478Q; 17:4674948-4674948	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2684C>T; p.P895L; 17:4672457-4672457	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2127C>A; p.P709P; 17:4673014-4673014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2188G>C; p.A730P; 17:4672953-4672953	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2892A>T; p.E964D; 17:4672249-4672249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2366T>C; p.I789T; 17:4672775-4672775	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1307C>T; p.A436V; 17:4675274-4675274	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2161A>G; p.M721V; 17:4672980-4672980	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2711C>T; p.T904M; 17:4672430-4672430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1224G>A; p.L408L; 17:4675357-4675357	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1856C>T; p.P619L; 17:4673389-4673389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2390delC; p.P797fs*43; 17:4672751-4672751	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2696T>C; p.V899A; 17:4672445-4672445	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2964A>T; p.E988D; 17:4672177-4672177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.768C>T; p.F256F; 17:4682526-4682526	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2542delC; p.L848fs*14; 17:4672599-4672599	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2542delC; p.L848fs*14; 17:4672599-4672599	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2542delC; p.L848fs*14; 17:4672599-4672599	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2542delC; p.L848fs*14; 17:4672599-4672599	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2542delC; p.L848fs*14; 17:4672599-4672599	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2542delC; p.L848fs*14; 17:4672599-4672599	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2542delC; p.L848fs*14; 17:4672599-4672599	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2542delC; p.L848fs*14; 17:4672599-4672599	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2542delC; p.L848fs*14; 17:4672599-4672599	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2542delC; p.L848fs*14; 17:4672599-4672599	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2542delC; p.L848fs*14; 17:4672599-4672599	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2542delC; p.L848fs*14; 17:4672599-4672599	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2542delC; p.L848fs*14; 17:4672599-4672599	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3449A>G; p.K1150R; 17:4671692-4671692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2526C>T; p.P842P; 17:4672615-4672615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1670C>T; p.P557L; 17:4674572-4674572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2202T>C; p.P734P; 17:4672939-4672939	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2542_2543insC; p.L848fs*33; 17:4672598-4672599	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2124G>A; p.S708S; 17:4673017-4673017	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.988G>A; p.E330K; 17:4676372-4676372	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2991A>G; p.E997E; 17:4672150-4672150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2294G>T; p.G765V; 17:4672847-4672847	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2448C>A; p.V816V; 17:4672693-4672693	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.242C>T; p.P81L; 17:4704020-4704020	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.768C>T; p.F256F; 17:4682526-4682526	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1687G>A; p.G563R; 17:4674555-4674555	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2356G>A; p.E786K; 17:4672785-4672785	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1562A>C; p.D521A; 17:4674819-4674819	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.951G>T; p.L317L; 17:4676409-4676409	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3160G>T; p.G1054W; 17:4671981-4671981	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.448A>T; p.S150C; 17:4691394-4691394	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1755G>T; p.M585I; 17:4673652-4673652	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3519A>T; p.P1173P; 17:4671463-4671463	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3203G>A; p.R1068H; 17:4671938-4671938	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3522T>C; p.P1174P; 17:4671460-4671460	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2914G>C; p.E972Q; 17:4672227-4672227	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1085G>T; p.R362L; 17:4676081-4676081	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.359T>A; p.M120K; 17:4703903-4703903	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1428G>A; p.T476T; 17:4674953-4674953	oesophagus	carcinoma	Substitution - coding silent
c.1630C>A; p.P544T; 17:4674612-4674612	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.750G>C; p.K250N; 17:4682544-4682544	pancreas	carcinoma	Substitution - Missense
c.2679A>C; p.P893P; 17:4672462-4672462	pancreas	carcinoma	Substitution - coding silent
c.1097C>T; p.S366L; 17:4676069-4676069	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.2452T>C; p.Y818H; 17:4672689-4672689	prostate	carcinoma	Substitution - Missense
c.1177G>A; p.D393N; 17:4675838-4675838	prostate	carcinoma	Substitution - Missense
c.2106C>T; p.P702P; 17:4673035-4673035	skin	malignant_melanoma	Substitution - coding silent
c.770C>T; p.P257L; 17:4682524-4682524	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2323C>T; p.P775S; 17:4672818-4672818	skin	malignant_melanoma	Substitution - Missense
c.1582C>T; p.P528S; 17:4674660-4674660	skin	malignant_melanoma	Substitution - Missense
c.2127C>T; p.P709P; 17:4673014-4673014	skin	malignant_melanoma	Substitution - coding silent
c.3125C>T; p.P1042L; 17:4672016-4672016	skin	malignant_melanoma	Substitution - Missense
c.1358C>T; p.P453L; 17:4675145-4675145	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1513G>A; p.G505R; 17:4674868-4674868	skin	malignant_melanoma	Substitution - Missense
c.1924C>T; p.P642S; 17:4673321-4673321	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.236C>T; p.S79L; 17:4704026-4704026	skin	malignant_melanoma	Substitution - Missense
c.3248C>T; p.S1083F; 17:4671893-4671893	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2486C>T; p.S829F; 17:4672655-4672655	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1746C>T; p.T582T; 17:4673661-4673661	skin	malignant_melanoma	Substitution - coding silent
c.2193C>T; p.G731G; 17:4672948-4672948	skin	malignant_melanoma	Substitution - coding silent
c.2152C>T; p.P718S; 17:4672989-4672989	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2543T>C; p.L848P; 17:4672598-4672598	skin	malignant_melanoma	Substitution - Missense
c.1204A>T; p.S402C; 17:4675811-4675811	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1318C>T; p.R440W; 17:4675185-4675185	skin	malignant_melanoma	Substitution - Missense
c.1509C>T; p.A503A; 17:4674872-4674872	skin	malignant_melanoma	Substitution - coding silent
c.3300C>T; p.P1100P; 17:4671841-4671841	skin	malignant_melanoma	Substitution - coding silent
c.1629C>T; p.A543A; 17:4674613-4674613	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2099C>T; p.P700L; 17:4673042-4673042	skin	malignant_melanoma	Substitution - Missense
c.2612C>T; p.P871L; 17:4672529-4672529	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2542delC; p.L848fs*14; 17:4672599-4672599	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1630C>G; p.P544A; 17:4674612-4674612	skin	malignant_melanoma	Substitution - Missense
c.489C>T; p.S163S; 17:4690969-4690969	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1023C>T; p.G341G; 17:4676143-4676143	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2146C>T; p.H716Y; 17:4672995-4672995	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.668C>T; p.S223F; 17:4682855-4682855	skin	malignant_melanoma	Substitution - Missense
c.2146C>T; p.H716Y; 17:4672995-4672995	skin	malignant_melanoma	Substitution - Missense
c.3139C>T; p.P1047S; 17:4672002-4672002	skin	malignant_melanoma	Substitution - Missense
c.2762_2763CC>TT; p.P921L; 17:4672378-4672379	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.860G>T; p.C287F; 17:4676500-4676500	skin	malignant_melanoma	Substitution - Missense
c.1567C>T; p.L523F; 17:4674814-4674814	skin	malignant_melanoma	Substitution - Missense
c.1669C>T; p.P557S; 17:4674573-4674573	skin	malignant_melanoma	Substitution - Missense
c.2577C>T; p.P859P; 17:4672564-4672564	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2374C>T; p.P792S; 17:4672767-4672767	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3240G>A; p.A1080A; 17:4671901-4671901	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.750G>T; p.K250N; 17:4682544-4682544	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2240C>T; p.S747L; 17:4672901-4672901	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1386T>C; p.G462G; 17:4675117-4675117	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.1718C>T; p.A573V; 17:4674524-4674524	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2142G>A; p.P714P; 17:4672999-4672999	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.537G>A; p.V179V; 17:4690921-4690921	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.443G>A; p.R148H; 17:4691399-4691399	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1349G>A; p.R450H; 17:4675154-4675154	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2553A>C; p.P851P; 17:4672588-4672588	thyroid	other; neoplasm	Substitution - coding silent
c.2553A>C; p.P851P; 17:4672588-4672588	thyroid	other; neoplasm	Substitution - coding silent
c.313C>A; p.P105T; 17:4703949-4703949	thyroid	other; neoplasm	Substitution - Missense
c.1112G>T; p.C371F; 17:4676054-4676054	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1112G>T; p.C371F; 17:4676054-4676054	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2007C>A; p.F669L; 17:4673134-4673134	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2007C>A; p.F669L; 17:4673134-4673134	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1264A>T; p.I422F; 17:4675317-4675317	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1663A>G; p.M555V; 17:4674579-4674579	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2547A>C; p.P849P; 17:4672594-4672594	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3161_3162insAACCCG; p.G1054_L1055insTR; 17:4671979-4671980	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.3161_3162insAACCCG; p.G1054_L1055insTR; 17:4671979-4671980	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2077C>T; p.P693S; 17:4673064-4673064	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1058G>T; p.G353V; 17:4676108-4676108	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1318C>T; p.R440W; 17:4675185-4675185	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3460G>A; p.D1154N; 17:4671522-4671522	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1602G>A; p.G534G; 17:4674640-4674640	urinary_tract; bladder	carcinoma	Substitution - coding silent

Oncogene database

COSMIC confirmed somatic mutation [Top]

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