lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	5745
Symbol	PTH1R
Synonymous	PFE\|PTHR\|PTHR1
Full name	parathyroid hormone 1 receptor
Gene description	PTH/PTHr receptor\|PTH/PTHrP type I receptor\|PTH1 receptor\|parathyroid hormone receptor 1\|parathyroid hormone/parathyroid hormone-related peptide receptor\|parathyroid hormone/parathyroid hormone-related protein receptor\|seven transmembrane helix receptor
Cytoband	3p22-p21.1
Gene type	protein-coding
Synonymous	MIM:168468; HGNC:HGNC:9608; Ensembl:ENSG00000160801; HPRD:01347; Vega:OTTHUMG00000133515

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.951G>T; p.E317D; 3:46899419-46899419	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.331G>A; p.E111K; 3:46897872-46897872	skin	malignant_melanoma	Substitution - Missense
c.1706C>G; p.S569*; 3:46903580-46903580	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1645G>A; p.E549K; 3:46903519-46903519	skin	malignant_melanoma	Substitution - Missense
c.865C>A; p.L289I; 3:46899333-46899333	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1560C>T; p.P520P; 3:46903434-46903434	skin	malignant_melanoma	Substitution - coding silent
c.1640C>A; p.T547N; 3:46903514-46903514	skin	malignant_melanoma	Substitution - Missense
c.265C>T; p.P89S; 3:46895821-46895821	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.177A>G; p.P59P; 3:46894008-46894008	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.600G>A; p.A200A; 3:46898434-46898434	thyroid	other; neoplasm	Substitution - coding silent
c.188T>G; p.M63R; 3:46895744-46895744	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.639-4G>A; p.?; 3:46898658-46898658	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1468G>A; p.G490R; 3:46903342-46903342	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.586T>A; p.S196T; 3:46898420-46898420	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.165C>A; p.V55V; 3:46893996-46893996	liver	carcinoma	Substitution - coding silent
c.165C>A; p.V55V; 3:46893996-46893996	liver	carcinoma	Substitution - coding silent
c.1462C>T; p.R488C; 3:46903336-46903336	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1255G>A; p.V419I; 3:46902569-46902569	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.106G>A; p.E36K; 3:46893937-46893937	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.593C>T; p.S198F; 3:46898427-46898427	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.593C>T; p.S198F; 3:46898427-46898427	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.526A>G; p.N176D; 3:46898175-46898175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.227G>A; p.G76E; 3:46895783-46895783	skin	malignant_melanoma	Substitution - Missense
c.237G>A; p.R79R; 3:46895793-46895793	skin	malignant_melanoma	Substitution - coding silent
c.1366G>A; p.A456T; 3:46902761-46902761	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1366G>A; p.A456T; 3:46902761-46902761	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1049G>A; p.G350E; 3:46901085-46901085	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.735C>T; p.Y245Y; 3:46898758-46898758	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.588C>T; p.S196S; 3:46898422-46898422	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - coding silent
c.1245C>T; p.P415P; 3:46902559-46902559	skin	malignant_melanoma	Substitution - coding silent
c.1339T>C; p.F447L; 3:46902653-46902653	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1562G>A; p.R521H; 3:46903436-46903436	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.146delA; p.K50fs*13; 3:46893977-46893977	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1622G>A; p.G541E; 3:46903496-46903496	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1778T>C; p.M593T; 3:46903652-46903652	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.802delC; p.P269fs*17; 3:46898825-46898825	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.166C>T; p.L56L; 3:46893997-46893997	skin	malignant_melanoma	Substitution - coding silent
c.742G>T; p.A248S; 3:46898765-46898765	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.742G>T; p.A248S; 3:46898765-46898765	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.742G>T; p.A248S; 3:46898765-46898765	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.742G>T; p.A248S; 3:46898765-46898765	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.742G>T; p.A248S; 3:46898765-46898765	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.742G>T; p.A248S; 3:46898765-46898765	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.742G>T; p.A248S; 3:46898765-46898765	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.742G>T; p.A248S; 3:46898765-46898765	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.737C>G; p.S246C; 3:46898760-46898760	urinary_tract; bladder	carcinoma	Substitution - Missense
c.196G>A; p.D66N; 3:46895752-46895752	breast	carcinoma	Substitution - Missense
c.543+1G>T; p.?; 3:46898193-46898193	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1609C>T; p.H537Y; 3:46903483-46903483	skin	malignant_melanoma	Substitution - Missense
c.201G>A; p.K67K; 3:46895757-46895757	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1609C>T; p.H537Y; 3:46903483-46903483	skin	malignant_melanoma	Substitution - Missense
c.95T>C; p.M32T; 3:46893926-46893926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1781G>T; p.*594L; 3:46903655-46903655	lung	carcinoma; adenocarcinoma	Nonstop extension
c.290C>T; p.A97V; 3:46895846-46895846	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1702_1703delTG; p.C568fs*11; 3:46903576-46903577	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1702_1703delTG; p.C568fs*11; 3:46903576-46903577	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1532G>A; p.R511H; 3:46903406-46903406	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1702_1703delTG; p.C568fs*11; 3:46903576-46903577	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.227G>T; p.G76V; 3:46895783-46895783	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1532G>A; p.R511H; 3:46903406-46903406	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.111G>A; p.Q37Q; 3:46893942-46893942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1587C>T; p.N529N; 3:46903461-46903461	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.373G>C; p.E125Q; 3:46897914-46897914	breast	carcinoma	Substitution - Missense
c.837G>A; p.A279A; 3:46899305-46899305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1493C>T; p.P498L; 3:46903367-46903367	skin	malignant_melanoma	Substitution - Missense
c.1304C>T; p.T435M; 3:46902618-46902618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1134_1137delCATC; p.F378fs*127; 3:46901783-46901786	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1144G>A; p.V382I; 3:46901793-46901793	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1181_1182CC>TT; p.A394V; 3:46901830-46901831	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1720G>A; p.E574K; 3:46903594-46903594	skin	malignant_melanoma	Substitution - Missense
c.544-1G>T; p.?; 3:46898377-46898377	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1286A>G; p.Y429C; 3:46902600-46902600	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1389T>C; p.N463N; 3:46902784-46902784	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.398A>G; p.D133G; 3:46897939-46897939	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1365C>T; p.V455V; 3:46902760-46902760	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1028G>T; p.R343I; 3:46901064-46901064	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1561C>T; p.R521C; 3:46903435-46903435	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1518C>T; p.T506T; 3:46903392-46903392	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.179C>G; p.A60G; 3:46895735-46895735	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1375T>C; p.Y459H; 3:46902770-46902770	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1776C>A; p.V592V; 3:46903650-46903650	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1589G>A; p.G530D; 3:46903463-46903463	skin	malignant_melanoma	Substitution - Missense
c.1531C>T; p.R511C; 3:46903405-46903405	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.357G>A; p.P119P; 3:46897898-46897898	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.357G>A; p.P119P; 3:46897898-46897898	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.281A>G; p.D94G; 3:46895837-46895837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1179C>T; p.N393N; 3:46901828-46901828	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.215C>A; p.A72E; 3:46895771-46895771	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.996C>T; p.P332P; 3:46901032-46901032	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.362G>A; p.G121E; 3:46897903-46897903	skin	malignant_melanoma	Substitution - Missense
c.118C>T; p.L40L; 3:46893949-46893949	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.136G>A; p.A46T; 3:46893967-46893967	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1316T>C; p.V439A; 3:46902630-46902630	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1148G>A; p.R383Q; 3:46901797-46901797	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1121A>T; p.N374I; 3:46901770-46901770	liver	carcinoma	Substitution - Missense
c.1121A>T; p.N374I; 3:46901770-46901770	liver	carcinoma	Substitution - Missense
c.535C>T; p.R179C; 3:46898184-46898184	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.851C>T; p.A284V; 3:46899319-46899319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.212C>G; p.S71C; 3:46895768-46895768	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.472C>T; p.P158S; 3:46898121-46898121	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.472C>T; p.P158S; 3:46898121-46898121	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1684G>A; p.G562R; 3:46903558-46903558	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.425-1G>T; p.?; 3:46898073-46898073	kidney	carcinoma; papillary_renal_cell_carcinoma	Unknown
c.1146C>T; p.V382V; 3:46901795-46901795	skin	malignant_melanoma	Substitution - coding silent
c.599C>T; p.A200V; 3:46898433-46898433	pancreas	carcinoma	Substitution - Missense
c.173G>A; p.R58K; 3:46894004-46894004	skin	malignant_melanoma	Substitution - Missense
c.714C>G; p.F238L; 3:46898737-46898737	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.491G>A; p.W164*; 3:46898140-46898140	skin	malignant_melanoma	Substitution - Nonsense
c.1227C>T; p.S409S; 3:46902541-46902541	skin	malignant_melanoma	Substitution - coding silent
c.1558_1559CC>TT; p.P520F; 3:46903432-46903433	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1454G>A; p.R485Q; 3:46903328-46903328	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1048G>A; p.G350R; 3:46901084-46901084	urinary_tract; bladder	carcinoma	Substitution - Missense
c.760G>A; p.E254K; 3:46898783-46898783	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1143C>T; p.I381I; 3:46901792-46901792	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.389C>T; p.P130L; 3:46897930-46897930	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1143C>T; p.I381I; 3:46901792-46901792	skin	malignant_melanoma	Substitution - coding silent
c.686C>A; p.S229Y; 3:46898709-46898709	thyroid	other; neoplasm	Substitution - Missense
c.785G>A; p.R262H; 3:46898808-46898808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.390C>T; p.P130P; 3:46897931-46897931	lung	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation