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

Basic Information

Gene ID

27429

Name

HTRA2

Synonymous

HtrA serine peptidase 2;HTRA2;HtrA serine peptidase 2

Definition

HtrA-like serine protease|Omi stress-regulated endoprotease|high temperature requirement protein A2|protease, serine, 25|serine protease 25|serine protease HTRA2, mitochondrial|serine proteinase OMI

Position

2p12

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

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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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.16.

The copy number variations for various cancers

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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.1295G>A; p.R432Q; 2:74532903-74532903

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1078C>T; p.R360C; 2:74531888-74531888

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1078C>T; p.R360C; 2:74531888-74531888

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.532C>T; p.P178S; 2:74530642-74530642

 skinmalignant_melanomaSubstitution - Missense

c.573G>A; p.G191G; 2:74530683-74530683

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.573G>A; p.G191G; 2:74530683-74530683

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.568G>A; p.D190N; 2:74530678-74530678

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.718C>T; p.L240F; 2:74530917-74530917

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.911G>A; p.G304E; 2:74531343-74531343

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.191G>A; p.G64E; 2:74530197-74530197

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.604G>A; p.D202N; 2:74530714-74530714

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.379G>T; p.G127C; 2:74530385-74530385

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.604G>A; p.D202N; 2:74530714-74530714

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1324C>T; p.R442W; 2:74532932-74532932

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1324C>T; p.R442W; 2:74532932-74532932

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.109G>A; p.A37T; 2:74530115-74530115

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.340delG; p.A116fs*93; 2:74530346-74530346

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.215T>A; p.L72Q; 2:74530221-74530221

 livercarcinomaSubstitution - Missense

c.215T>A; p.L72Q; 2:74530221-74530221

 livercarcinomaSubstitution - Missense

c.1057G>A; p.G353R; 2:74531867-74531867

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1009C>A; p.R337S; 2:74531666-74531666

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 2:74530215-74530215

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1191C>T; p.I397I; 2:74532694-74532694

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1191C>T; p.I397I; 2:74532694-74532694

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.1079G>A; p.R360H; 2:74531889-74531889

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1164G>A; p.Q388Q; 2:74532667-74532667

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1164G>A; p.Q388Q; 2:74532667-74532667

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.31G>A; p.G11S; 2:74530037-74530037

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.53G>A; p.R18Q; 2:74530059-74530059

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1349T>G; p.L450*; 2:74532957-74532957

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.782G>A; p.G261E; 2:74530981-74530981

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.711+3delG; p.?; 2:74530824-74530824

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1241T>A; p.L414*; 2:74532849-74532849

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.70C>T; p.R24C; 2:74530076-74530076

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.411C>A; p.S137R; 2:74530417-74530417

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1285G>T; p.E429*; 2:74532893-74532893

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1192C>T; p.L398L; 2:74532695-74532695

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1016G>A; p.R339Q; 2:74531673-74531673

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.971A>G; p.K324R; 2:74531628-74531628

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.835C>G; p.Q279E; 2:74531034-74531034

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.44G>C; p.R15P; 2:74530050-74530050

 ovaryother; neoplasmSubstitution - Missense

c.44G>C; p.R15P; 2:74530050-74530050

 ovaryother; neoplasmSubstitution - Missense

c.808A>G; p.I270V; 2:74531007-74531007

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.12G>A; p.P4P; 2:74530018-74530018

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.12G>A; p.P4P; 2:74530018-74530018

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.12G>A; p.P4P; 2:74530018-74530018

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.538T>C; p.S180P; 2:74530648-74530648

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.488A>G; p.Y163C; 2:74530494-74530494

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.102C>T; p.D34D; 2:74530108-74530108

 skinmalignant_melanomaSubstitution - coding silent

c.45G>C; p.R15R; 2:74530051-74530051

 ovaryother; neoplasmSubstitution - coding silent

c.45G>C; p.R15R; 2:74530051-74530051

 ovaryother; neoplasmSubstitution - coding silent

c.149T>G; p.V50G; 2:74530155-74530155

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1031G>A; p.R344H; 2:74531688-74531688

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.237_238CC>TT; p.R80W; 2:74530243-74530244

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.705G>C; p.Q235H; 2:74530815-74530815

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.733C>T; p.L245L; 2:74530932-74530932

 breastcarcinomaSubstitution - coding silent

c.483G>A; p.V161V; 2:74530489-74530489

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1334G>A; p.R445Q; 2:74532942-74532942

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1138C>T; p.R380*; 2:74532641-74532641

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.574C>A; p.L192I; 2:74530684-74530684

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.995C>T; p.A332V; 2:74531652-74531652

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.269C>T; p.T90I; 2:74530275-74530275

 skinmalignant_melanomaSubstitution - Missense

c.539C>G; p.S180W; 2:74530649-74530649

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.33C>T; p.G11G; 2:74530039-74530039

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.254C>T; p.A85V; 2:74530260-74530260

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.18G>A; p.A6A; 2:74530024-74530024

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1329G>T; p.R443R; 2:74532937-74532937

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1344G>C; p.L448L; 2:74532952-74532952

 livercarcinomaSubstitution - coding silent

c.221C>G; p.S74C; 2:74530227-74530227

 oesophaguscarcinomaSubstitution - Missense

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