Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

5654

Name

HTRA1

Synonymous

HtrA serine peptidase 1;HTRA1;HtrA serine peptidase 1

Definition

IGFBP5-protease|high-temperature requirement A serine peptidase 1|protease, serine, 11 (IGF binding)|serine protease HTRA1

Position

10q26.3

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.03.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.438G>A; p.P146P; 10:122462090-122462090

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1086G>T; p.K362N; 10:122508736-122508736

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1018A>G; p.I340V; 10:122508668-122508668

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.769G>T; p.D257Y; 10:122489618-122489618

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.553C>T; p.H185Y; 10:122488982-122488982

 skin; scalpmalignant_melanomaSubstitution - Missense

c.1293C>T; p.N431N; 10:122514209-122514209

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.820C>T; p.R274W; 10:122506733-122506733

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.735G>A; p.V245V; 10:122489584-122489584

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.905G>A; p.R302Q; 10:122506818-122506818

 skinmalignant_melanomaSubstitution - Missense

c.1350C>T; p.D450D; 10:122514266-122514266

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1301T>C; p.I434T; 10:122514217-122514217

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1350C>T; p.D450D; 10:122514266-122514266

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.905G>A; p.R302Q; 10:122506818-122506818

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.631G>A; p.E211K; 10:122489480-122489480

 skinmalignant_melanomaSubstitution - Missense

c.1095G>A; p.T365T; 10:122508745-122508745

 breastcarcinomaSubstitution - coding silent

c.614C>T; p.S205F; 10:122489463-122489463

 skinmalignant_melanomaSubstitution - Missense

c.888C>T; p.I296I; 10:122506801-122506801

 skinmalignant_melanomaSubstitution - coding silent

c.888C>T; p.I296I; 10:122506801-122506801

 skinmalignant_melanomaSubstitution - coding silent

c.1407C>G; p.I469M; 10:122514323-122514323

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.714C>T; p.Y238Y; 10:122489563-122489563

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.860C>T; p.S287F; 10:122506773-122506773

 skinmalignant_melanomaSubstitution - Missense

c.860C>T; p.S287F; 10:122506773-122506773

 skinmalignant_melanomaSubstitution - Missense

c.1140G>A; p.K380K; 10:122510115-122510115

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.497G>A; p.R166H; 10:122488926-122488926

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.712T>C; p.Y238H; 10:122489561-122489561

 skinmalignant_melanomaSubstitution - Missense

c.1333G>A; p.A445T; 10:122514249-122514249

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1157G>A; p.R386Q; 10:122510132-122510132

 breastcarcinomaSubstitution - Missense

c.1236G>A; p.A412A; 10:122512027-122512027

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.778G>A; p.G260S; 10:122506691-122506691

 livercarcinomaSubstitution - Missense

c.1274+1G>A; p.?; 10:122512066-122512066

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1274+1G>A; p.?; 10:122512066-122512066

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourUnknown

c.1322C>T; p.S441F; 10:122514238-122514238

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.778G>A; p.G260S; 10:122506691-122506691

 livercarcinomaSubstitution - Missense

c.821G>A; p.R274Q; 10:122506734-122506734

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1355T>C; p.I452T; 10:122514271-122514271

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1049G>T; p.G350V; 10:122508699-122508699

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1288G>A; p.E430K; 10:122514204-122514204

 skinmalignant_melanomaSubstitution - Missense

c.1009G>A; p.G337S; 10:122508659-122508659

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.889G>A; p.V297M; 10:122506802-122506802

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.826G>A; p.G276R; 10:122506739-122506739

 skinmalignant_melanomaSubstitution - Missense

c.1179C>A; p.S393R; 10:122511970-122511970

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1307G>A; p.S436N; 10:122514223-122514223

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1307G>A; p.S436N; 10:122514223-122514223

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.546C>G; p.A182A; 10:122488975-122488975

 livercarcinomaSubstitution - coding silent

c.1297G>A; p.V433I; 10:122514213-122514213

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1297G>A; p.V433I; 10:122514213-122514213

 skinmalignant_melanomaSubstitution - Missense

c.1297G>A; p.V433I; 10:122514213-122514213

 breastcarcinomaSubstitution - Missense

c.1425C>A; p.P475P; 10:122514341-122514341

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1367G>T; p.S456I; 10:122514283-122514283

 breastcarcinomaSubstitution - Missense

c.680G>A; p.R227Q; 10:122489529-122489529

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.680G>A; p.R227Q; 10:122489529-122489529

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1351G>A; p.V451I; 10:122514267-122514267

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1008C>T; p.D336D; 10:122508658-122508658

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.656C>T; p.A219V; 10:122489505-122489505

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.834C>T; p.F278F; 10:122506747-122506747

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.834C>T; p.F278F; 10:122506747-122506747

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.637G>A; p.G213R; 10:122489486-122489486

 skinmalignant_melanomaSubstitution - Missense

c.860_861CC>TT; p.S287F; 10:122506773-122506774

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.972C>T; p.N324N; 10:122506885-122506885

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.776A>T; p.Q259L; 10:122489625-122489625

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.753C>T; p.I251I; 10:122489602-122489602

 thyroidother; neoplasmSubstitution - coding silent

c.539C>T; p.A180V; 10:122488968-122488968

 skinmalignant_melanomaSubstitution - Missense

c.994T>C; p.L332L; 10:122507391-122507391

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.951C>T; p.I317I; 10:122506864-122506864

 skinmalignant_melanomaSubstitution - coding silent

c.1035G>A; p.L345L; 10:122508685-122508685

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.812C>T; p.S271L; 10:122506725-122506725

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1114G>A; p.A372T; 10:122508764-122508764

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.559G>A; p.E187K; 10:122488988-122488988

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.559G>A; p.E187K; 10:122488988-122488988

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.645C>T; p.I215I; 10:122489494-122489494

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1329C>A; p.V443V; 10:122514245-122514245

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.569G>A; p.R190H; 10:122488998-122488998

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.569G>A; p.R190H; 10:122488998-122488998

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.743A>C; p.K248T; 10:122489592-122489592

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1294G>A; p.D432N; 10:122514210-122514210

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1294G>A; p.D432N; 10:122514210-122514210

 skinmalignant_melanomaSubstitution - Missense

c.1215C>T; p.F405F; 10:122512006-122512006

 skinmalignant_melanomaSubstitution - coding silent

c.623T>C; p.I208T; 10:122489472-122489472

 skinmalignant_melanomaSubstitution - Missense

c.1153A>G; p.I385V; 10:122510128-122510128

 livercarcinomaSubstitution - Missense

c.1153A>G; p.I385V; 10:122510128-122510128

 livercarcinomaSubstitution - Missense

c.1009G>T; p.G337C; 10:122508659-122508659

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.522C>T; p.D174D; 10:122488951-122488951

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.629C>T; p.S210L; 10:122489478-122489478

 pancreascarcinomaSubstitution - Missense

c.1094C>T; p.T365M; 10:122508744-122508744

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.549G>T; p.V183V; 10:122488978-122488978

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.598C>T; p.P200S; 10:122489447-122489447

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1411A>T; p.I471F; 10:122514327-122514327

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1262C>T; p.T421I; 10:122512053-122512053

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1093A>G; p.T365A; 10:122508743-122508743

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1347C>T; p.S449S; 10:122514263-122514263

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1347C>T; p.S449S; 10:122514263-122514263

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.660C>T; p.H220H; 10:122489509-122489509

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.499C>T; p.H167Y; 10:122488928-122488928

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.847G>A; p.G283R; 10:122506760-122506760

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1230A>G; p.S410S; 10:122512021-122512021

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1426G>A; p.E476K; 10:122514342-122514342

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1424C>T; p.P475L; 10:122514340-122514340

 skinmalignant_melanomaSubstitution - Missense

c.855G>A; p.P285P; 10:122506768-122506768

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.806G>A; p.R269H; 10:122506719-122506719

 breastcarcinomaSubstitution - Missense

c.642G>A; p.L214L; 10:122489491-122489491

 skinmalignant_melanomaSubstitution - coding silent

c.918G>T; p.E306D; 10:122506831-122506831

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1189G>T; p.E397*; 10:122511980-122511980

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1189G>T; p.E397*; 10:122511980-122511980

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1189G>T; p.E397*; 10:122511980-122511980

 large_intestine; coloncarcinomaSubstitution - Nonsense

c.1189G>T; p.E397*; 10:122511980-122511980

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.715G>A; p.E239K; 10:122489564-122489564

 skinmalignant_melanomaSubstitution - Missense

c.961G>A; p.A321T; 10:122506874-122506874

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.715G>A; p.E239K; 10:122489564-122489564

 skinmalignant_melanomaSubstitution - Missense

c.961G>A; p.A321T; 10:122506874-122506874

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.715G>A; p.E239K; 10:122489564-122489564

 skinmalignant_melanomaSubstitution - Missense

c.1174T>C; p.S392P; 10:122510149-122510149

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.568C>T; p.R190C; 10:122488997-122488997

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1089C>T; p.F363F; 10:122508739-122508739

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.568C>T; p.R190C; 10:122488997-122488997

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.799C>A; p.L267I; 10:122506712-122506712

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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