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

Basic Information

Gene ID

835

Name

CASP2

Synonymous

caspase 2, apoptosis-related cysteine peptidase;CASP2;caspase 2, apoptosis-related cysteine peptidase

Definition

caspase-2|neural precursor cell expressed developmentally down-regulated protein 2|protease ICH-1|protein phosphatase 1, regulatory subunit 57

Position

7q34-q35

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 0.09.

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.1282C>T; p.R428W; 7:143304994-143304994

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1193C>T; p.A398V; 7:143304749-143304749

 large_intestine; coloncarcinomaSubstitution - Missense

c.1193C>T; p.A398V; 7:143304749-143304749

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1051G>T; p.E351*; 7:143303867-143303867

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.524A>G; p.Q175R; 7:143294278-143294278

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.589C>T; p.R197W; 7:143294615-143294615

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.549T>G; p.F183L; 7:143294303-143294303

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1189C>T; p.R397W; 7:143304745-143304745

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1206C>T; p.H402H; 7:143304762-143304762

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.983G>T; p.G328V; 7:143303799-143303799

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.759G>T; p.E253D; 7:143299934-143299934

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.361A>C; p.T121P; 7:143292435-143292435

 breastcarcinomaSubstitution - Missense

c.427C>T; p.P143S; 7:143292650-143292650

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.906C>T; p.N302N; 7:143300233-143300233

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.906C>T; p.N302N; 7:143300233-143300233

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.980G>A; p.R327H; 7:143303796-143303796

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1148G>T; p.G383V; 7:143304704-143304704

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1148G>T; p.G383V; 7:143304704-143304704

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1148G>T; p.G383V; 7:143304704-143304704

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1148G>T; p.G383V; 7:143304704-143304704

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1148G>T; p.G383V; 7:143304704-143304704

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1148G>T; p.G383V; 7:143304704-143304704

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1148G>T; p.G383V; 7:143304704-143304704

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1148G>T; p.G383V; 7:143304704-143304704

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1148G>T; p.G383V; 7:143304704-143304704

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.871C>T; p.L291F; 7:143300046-143300046

 ovaryother; neoplasmSubstitution - Missense

c.905A>G; p.N302S; 7:143300232-143300232

 breastcarcinomaSubstitution - Missense

c.391C>T; p.P131S; 7:143292465-143292465

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.714T>C; p.Y238Y; 7:143294740-143294740

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.801G>A; p.T267T; 7:143299976-143299976

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.462C>A; p.L154L; 7:143292685-143292685

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaSubstitution - coding silent

c.514G>T; p.V172F; 7:143294268-143294268

 breastcarcinomaSubstitution - Missense

c.695T>G; p.L232R; 7:143294721-143294721

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.777A>G; p.A259A; 7:143299952-143299952

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.452A>T; p.Y151F; 7:143292675-143292675

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.499A>T; p.N167Y; 7:143294253-143294253

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.114A>G; p.E38E; 7:143291579-143291579

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.446C>T; p.P149L; 7:143292669-143292669

 skinmalignant_melanomaSubstitution - Missense

c.1249C>T; p.R417W; 7:143304961-143304961

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.643G>T; p.E215*; 7:143294669-143294669

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.643G>T; p.E215*; 7:143294669-143294669

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.595C>T; p.R199C; 7:143294621-143294621

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1336T>C; p.F446L; 7:143305048-143305048

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.464G>A; p.R155H; 7:143292687-143292687

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.92G>T; p.G31V; 7:143291557-143291557

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.408C>T; p.Y136Y; 7:143292631-143292631

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.154T>A; p.L52M; 7:143291619-143291619

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.408C>T; p.Y136Y; 7:143292631-143292631

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.689T>C; p.V230A; 7:143294715-143294715

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.23C>T; p.S8F; 7:143288478-143288478

 breastcarcinomaSubstitution - Missense

c.750A>C; p.E250D; 7:143299925-143299925

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.814G>A; p.V272M; 7:143299989-143299989

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.968A>G; p.D323G; 7:143303784-143303784

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.96G>T; p.M32I; 7:143291561-143291561

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.51G>T; p.L17L; 7:143288506-143288506

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.664G>A; p.G222R; 7:143294690-143294690

 ovaryother; neoplasmSubstitution - Missense

c.990C>A; p.D330E; 7:143303806-143303806

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1129A>G; p.M377V; 7:143304685-143304685

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.793C>T; p.R265*; 7:143299968-143299968

 pancreascarcinomaSubstitution - Nonsense

c.718G>A; p.V240I; 7:143294744-143294744

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.200C>T; p.T67I; 7:143291665-143291665

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.540T>C; p.T180T; 7:143294294-143294294

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.811A>G; p.I271V; 7:143299986-143299986

 livercarcinomaSubstitution - Missense

c.655C>T; p.R219C; 7:143294681-143294681

 skinmalignant_melanomaSubstitution - Missense

c.133G>A; p.V45M; 7:143291598-143291598

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1118-2A>G; p.?; 7:143304672-143304672

 oesophaguscarcinomaUnknown

c.843C>T; p.G281G; 7:143300018-143300018

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1081C>T; p.R361C; 7:143303897-143303897

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1081C>T; p.R361C; 7:143303897-143303897

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1133G>C; p.R378P; 7:143304689-143304689

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.16G>T; p.A6S; 7:143288471-143288471

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.859G>C; p.D287H; 7:143300034-143300034

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1101C>T; p.G367G; 7:143303917-143303917

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.19G>A; p.G7R; 7:143288474-143288474

 skinmalignant_melanomaSubstitution - Missense

c.102T>C; p.P34P; 7:143291567-143291567

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.393G>A; p.P131P; 7:143292467-143292467

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.327C>T; p.T109T; 7:143292401-143292401

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1029C>T; p.C343C; 7:143303845-143303845

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1322G>T; p.R441L; 7:143305034-143305034

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.699C>T; p.F233F; 7:143294725-143294725

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.421C>T; p.P141S; 7:143292644-143292644

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1339C>T; p.P447S; 7:143305051-143305051

 livercarcinomaSubstitution - Missense

c.1339C>T; p.P447S; 7:143305051-143305051

 livercarcinomaSubstitution - Missense

c.907G>A; p.A303T; 7:143300234-143300234

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1218G>C; p.M406I; 7:143304774-143304774

 oesophaguscarcinomaSubstitution - Missense

c.1161C>T; p.I387I; 7:143304717-143304717

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.525G>T; p.Q175H; 7:143294279-143294279

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1080G>A; p.T360T; 7:143303896-143303896

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1268G>A; p.G423D; 7:143304980-143304980

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.159G>T; p.L53F; 7:143291624-143291624

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.159G>T; p.L53F; 7:143291624-143291624

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.364C>A; p.L122I; 7:143292438-143292438

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.225+2T>C; p.?; 7:143291692-143291692

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.917C>T; p.P306L; 7:143300244-143300244

 skinmalignant_melanomaSubstitution - Missense

c.828delG; p.H277fs*80; 7:143300003-143300003

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.771T>C; p.N257N; 7:143299946-143299946

 kidneyother; neoplasmSubstitution - coding silent

c.1235C>T; p.A412V; 7:143304947-143304947

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.245G>T; p.S82I; 7:143292319-143292319

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1039G>A; p.D347N; 7:143303855-143303855

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.373C>T; p.L125F; 7:143292447-143292447

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.346G>T; p.D116Y; 7:143292420-143292420

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.318G>A; p.L106L; 7:143292392-143292392

 oesophaguscarcinomaSubstitution - coding silent

c.1118-4G>A; p.?; 7:143304670-143304670

 stomachadenocarcinomaUnknown

c.1062G>A; p.P354P; 7:143303878-143303878

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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