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	5654
Symbol	HTRA1
Synonymous	ARMD7\|CARASIL\|HtrA\|L56\|ORF480\|PRSS11
Full name	HtrA serine peptidase 1
Gene description	IGFBP5-protease\|high-temperature requirement A serine peptidase 1\|protease, serine, 11 (IGF binding)\|serine protease HTRA1
Cytoband	10q26.3
Gene type	protein-coding
Synonymous	MIM:602194; HGNC:HGNC:9476; Ensembl:ENSG00000166033; HPRD:03725; Vega:OTTHUMG00000019186

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.438G>A; p.P146P; 10:122462090-122462090	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1086G>T; p.K362N; 10:122508736-122508736	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1018A>G; p.I340V; 10:122508668-122508668	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.769G>T; p.D257Y; 10:122489618-122489618	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.553C>T; p.H185Y; 10:122488982-122488982	skin; scalp	malignant_melanoma	Substitution - Missense
c.1293C>T; p.N431N; 10:122514209-122514209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.820C>T; p.R274W; 10:122506733-122506733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.735G>A; p.V245V; 10:122489584-122489584	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.905G>A; p.R302Q; 10:122506818-122506818	skin	malignant_melanoma	Substitution - Missense
c.1350C>T; p.D450D; 10:122514266-122514266	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1301T>C; p.I434T; 10:122514217-122514217	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1350C>T; p.D450D; 10:122514266-122514266	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.905G>A; p.R302Q; 10:122506818-122506818	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.631G>A; p.E211K; 10:122489480-122489480	skin	malignant_melanoma	Substitution - Missense
c.1095G>A; p.T365T; 10:122508745-122508745	breast	carcinoma	Substitution - coding silent
c.614C>T; p.S205F; 10:122489463-122489463	skin	malignant_melanoma	Substitution - Missense
c.888C>T; p.I296I; 10:122506801-122506801	skin	malignant_melanoma	Substitution - coding silent
c.888C>T; p.I296I; 10:122506801-122506801	skin	malignant_melanoma	Substitution - coding silent
c.1407C>G; p.I469M; 10:122514323-122514323	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.714C>T; p.Y238Y; 10:122489563-122489563	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.860C>T; p.S287F; 10:122506773-122506773	skin	malignant_melanoma	Substitution - Missense
c.860C>T; p.S287F; 10:122506773-122506773	skin	malignant_melanoma	Substitution - Missense
c.1140G>A; p.K380K; 10:122510115-122510115	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.497G>A; p.R166H; 10:122488926-122488926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.712T>C; p.Y238H; 10:122489561-122489561	skin	malignant_melanoma	Substitution - Missense
c.1333G>A; p.A445T; 10:122514249-122514249	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1157G>A; p.R386Q; 10:122510132-122510132	breast	carcinoma	Substitution - Missense
c.1236G>A; p.A412A; 10:122512027-122512027	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.778G>A; p.G260S; 10:122506691-122506691	liver	carcinoma	Substitution - Missense
c.1274+1G>A; p.?; 10:122512066-122512066	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1274+1G>A; p.?; 10:122512066-122512066	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Unknown
c.1322C>T; p.S441F; 10:122514238-122514238	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.778G>A; p.G260S; 10:122506691-122506691	liver	carcinoma	Substitution - Missense
c.821G>A; p.R274Q; 10:122506734-122506734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1355T>C; p.I452T; 10:122514271-122514271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1049G>T; p.G350V; 10:122508699-122508699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1288G>A; p.E430K; 10:122514204-122514204	skin	malignant_melanoma	Substitution - Missense
c.1009G>A; p.G337S; 10:122508659-122508659	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.889G>A; p.V297M; 10:122506802-122506802	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.826G>A; p.G276R; 10:122506739-122506739	skin	malignant_melanoma	Substitution - Missense
c.1179C>A; p.S393R; 10:122511970-122511970	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1307G>A; p.S436N; 10:122514223-122514223	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1307G>A; p.S436N; 10:122514223-122514223	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.546C>G; p.A182A; 10:122488975-122488975	liver	carcinoma	Substitution - coding silent
c.1297G>A; p.V433I; 10:122514213-122514213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1297G>A; p.V433I; 10:122514213-122514213	skin	malignant_melanoma	Substitution - Missense
c.1297G>A; p.V433I; 10:122514213-122514213	breast	carcinoma	Substitution - Missense
c.1425C>A; p.P475P; 10:122514341-122514341	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1367G>T; p.S456I; 10:122514283-122514283	breast	carcinoma	Substitution - Missense
c.680G>A; p.R227Q; 10:122489529-122489529	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.680G>A; p.R227Q; 10:122489529-122489529	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1351G>A; p.V451I; 10:122514267-122514267	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1008C>T; p.D336D; 10:122508658-122508658	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.656C>T; p.A219V; 10:122489505-122489505	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.834C>T; p.F278F; 10:122506747-122506747	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.834C>T; p.F278F; 10:122506747-122506747	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.637G>A; p.G213R; 10:122489486-122489486	skin	malignant_melanoma	Substitution - Missense
c.860_861CC>TT; p.S287F; 10:122506773-122506774	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.972C>T; p.N324N; 10:122506885-122506885	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.776A>T; p.Q259L; 10:122489625-122489625	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.753C>T; p.I251I; 10:122489602-122489602	thyroid	other; neoplasm	Substitution - coding silent
c.539C>T; p.A180V; 10:122488968-122488968	skin	malignant_melanoma	Substitution - Missense
c.994T>C; p.L332L; 10:122507391-122507391	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.951C>T; p.I317I; 10:122506864-122506864	skin	malignant_melanoma	Substitution - coding silent
c.1035G>A; p.L345L; 10:122508685-122508685	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.812C>T; p.S271L; 10:122506725-122506725	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1114G>A; p.A372T; 10:122508764-122508764	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.559G>A; p.E187K; 10:122488988-122488988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.559G>A; p.E187K; 10:122488988-122488988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.645C>T; p.I215I; 10:122489494-122489494	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1329C>A; p.V443V; 10:122514245-122514245	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.569G>A; p.R190H; 10:122488998-122488998	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.569G>A; p.R190H; 10:122488998-122488998	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.743A>C; p.K248T; 10:122489592-122489592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1294G>A; p.D432N; 10:122514210-122514210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1294G>A; p.D432N; 10:122514210-122514210	skin	malignant_melanoma	Substitution - Missense
c.1215C>T; p.F405F; 10:122512006-122512006	skin	malignant_melanoma	Substitution - coding silent
c.623T>C; p.I208T; 10:122489472-122489472	skin	malignant_melanoma	Substitution - Missense
c.1153A>G; p.I385V; 10:122510128-122510128	liver	carcinoma	Substitution - Missense
c.1153A>G; p.I385V; 10:122510128-122510128	liver	carcinoma	Substitution - Missense
c.1009G>T; p.G337C; 10:122508659-122508659	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.522C>T; p.D174D; 10:122488951-122488951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.629C>T; p.S210L; 10:122489478-122489478	pancreas	carcinoma	Substitution - Missense
c.1094C>T; p.T365M; 10:122508744-122508744	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.549G>T; p.V183V; 10:122488978-122488978	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.598C>T; p.P200S; 10:122489447-122489447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1411A>T; p.I471F; 10:122514327-122514327	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1262C>T; p.T421I; 10:122512053-122512053	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1093A>G; p.T365A; 10:122508743-122508743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1347C>T; p.S449S; 10:122514263-122514263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1347C>T; p.S449S; 10:122514263-122514263	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.660C>T; p.H220H; 10:122489509-122489509	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.499C>T; p.H167Y; 10:122488928-122488928	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.847G>A; p.G283R; 10:122506760-122506760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1230A>G; p.S410S; 10:122512021-122512021	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1426G>A; p.E476K; 10:122514342-122514342	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1424C>T; p.P475L; 10:122514340-122514340	skin	malignant_melanoma	Substitution - Missense
c.855G>A; p.P285P; 10:122506768-122506768	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.806G>A; p.R269H; 10:122506719-122506719	breast	carcinoma	Substitution - Missense
c.642G>A; p.L214L; 10:122489491-122489491	skin	malignant_melanoma	Substitution - coding silent
c.918G>T; p.E306D; 10:122506831-122506831	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1189G>T; p.E397*; 10:122511980-122511980	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1189G>T; p.E397*; 10:122511980-122511980	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1189G>T; p.E397*; 10:122511980-122511980	large_intestine; colon	carcinoma	Substitution - Nonsense
c.1189G>T; p.E397*; 10:122511980-122511980	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.715G>A; p.E239K; 10:122489564-122489564	skin	malignant_melanoma	Substitution - Missense
c.961G>A; p.A321T; 10:122506874-122506874	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.715G>A; p.E239K; 10:122489564-122489564	skin	malignant_melanoma	Substitution - Missense
c.961G>A; p.A321T; 10:122506874-122506874	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.715G>A; p.E239K; 10:122489564-122489564	skin	malignant_melanoma	Substitution - Missense
c.1174T>C; p.S392P; 10:122510149-122510149	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.568C>T; p.R190C; 10:122488997-122488997	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1089C>T; p.F363F; 10:122508739-122508739	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.568C>T; p.R190C; 10:122488997-122488997	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.799C>A; p.L267I; 10:122506712-122506712	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation