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

Basic Information

Gene ID

838

Name

CASP5

Synonymous

caspase 5, apoptosis-related cysteine peptidase;CASP5;caspase 5, apoptosis-related cysteine peptidase

Definition

CASP-5|ICE(rel)-III|TY protease|caspase 5, apoptosis-related cysteine protease|caspase-5|protease ICH-3|protease TY

Position

11q22.2-q22.3

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 0.32.

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.460G>T; p.E154*; 11:105003309-105003309

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.195T>A; p.H65Q; 11:105007273-105007273

kidneyother; neoplasmSubstitution - Missense

c.518A>G; p.E173G; 11:105002179-105002179

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.518A>G; p.E173G; 11:105002179-105002179

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.518A>G; p.E173G; 11:105002179-105002179

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.195T>A; p.H65Q; 11:105007273-105007273

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.518A>G; p.E173G; 11:105002179-105002179

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.845G>A; p.R282H; 11:105000320-105000320

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.809T>G; p.L270R; 11:105000356-105000356

skinmalignant_melanomaSubstitution - Missense

c.1065A>T; p.R355S; 11:104997476-104997476

pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.10G>A; p.G4S; 11:105008930-105008930

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.305C>T; p.S102F; 11:105007163-105007163

NSNSSubstitution - Missense

c.95T>C; p.L32P; 11:105008845-105008845

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.85A>G; p.I29V; 11:105008855-105008855

skinmalignant_melanomaSubstitution - Missense

c.315G>T; p.K105N; 11:105007153-105007153

breastcarcinomaSubstitution - Missense

c.1043C>A; p.T348K; 11:104998890-104998890

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1043C>A; p.T348K; 11:104998890-104998890

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1043C>A; p.T348K; 11:104998890-104998890

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.474G>T; p.L158L; 11:105003295-105003295

livercarcinomaSubstitution - coding silent

c.474G>T; p.L158L; 11:105003295-105003295

livercarcinomaSubstitution - coding silent

c.404C>T; p.A135V; 11:105003365-105003365

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.875A>T; p.K292M; 11:105000290-105000290

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.783G>A; p.A261A; 11:105000382-105000382

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.63C>A; p.N21K; 11:105008877-105008877

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.403G>C; p.A135P; 11:105003366-105003366

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.402G>T; p.E134D; 11:105003367-105003367

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.39C>T; p.F13F; 11:105008901-105008901

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.133A>C; p.K45Q; 11:105008807-105008807

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.461A>T; p.E154V; 11:105003308-105003308

skinmalignant_melanomaSubstitution - Missense

c.498C>A; p.I166I; 11:105002199-105002199

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.805G>A; p.V269M; 11:105000360-105000360

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.512delA; p.K171fs*33; 11:105002185-105002185

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.917A>T; p.E306V; 11:104999016-104999016

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.67G>T; p.V23L; 11:105008873-105008873

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.386C>T; p.P129L; 11:105003383-105003383

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.386C>T; p.P129L; 11:105003383-105003383

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.869A>T; p.K290I; 11:105000296-105000296

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.607A>G; p.M203V; 11:105002090-105002090

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1028C>A; p.A343D; 11:104998905-104998905

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1180C>T; p.P394S; 11:104995821-104995821

skinmalignant_melanomaSubstitution - Missense

c.1087T>G; p.F363V; 11:104997454-104997454

urinary_tract; bladdercarcinomaSubstitution - Missense

c.119C>T; p.S40L; 11:105008821-105008821

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.134-7C>T; p.?; 11:105007341-105007341

urinary_tract; bladdercarcinomaUnknown

c.341C>T; p.T114I; 11:105007127-105007127

skinmalignant_melanomaSubstitution - Missense

c.352C>T; p.L118F; 11:105007116-105007116

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1250G>A; p.G417D; 11:104995751-104995751

skinmalignant_melanomaSubstitution - Missense

c.117G>T; p.K39N; 11:105008823-105008823

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.154_155insT; p.T52fs*3; 11:105007313-105007314

lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.731C>T; p.T244M; 11:105000434-105000434

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1256G>C; p.*419S; 11:104995745-104995745

lungcarcinoma; adenocarcinomaNonstop extension

c.743T>C; p.L248P; 11:105000422-105000422

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.878T>C; p.V293A; 11:105000287-105000287

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.600C>T; p.I200I; 11:105002097-105002097

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.261T>G; p.Y87*; 11:105007207-105007207

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1208T>C; p.I403T; 11:104995793-104995793

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.493G>A; p.E165K; 11:105003276-105003276

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.19C>T; p.Q7*; 11:105008921-105008921

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.975G>T; p.E325D; 11:104998958-104998958

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1245T>C; p.F415F; 11:104995756-104995756

cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.388C>G; p.L130V; 11:105003381-105003381

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.872C>T; p.P291L; 11:105000293-105000293

skinmalignant_melanomaSubstitution - Missense

c.221A>T; p.H74L; 11:105007247-105007247

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.221A>T; p.H74L; 11:105007247-105007247

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.600C>A; p.I200I; 11:105002097-105002097

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.251delA; p.K84fs*14; 11:105007217-105007217

pleurapulmonary_blastomaDeletion - Frameshift

c.648C>T; p.D216D; 11:105002049-105002049

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.451C>A; p.P151T; 11:105003318-105003318

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.108G>A; p.T36T; 11:105008832-105008832

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.975G>A; p.E325E; 11:104998958-104998958

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.805G>T; p.V269L; 11:105000360-105000360

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.293T>C; p.I98T; 11:105007175-105007175

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.31G>A; p.D11N; 11:105008909-105008909

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.649G>A; p.E217K; 11:105002048-105002048

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1153C>T; p.R385W; 11:104997388-104997388

skinmalignant_melanomaSubstitution - Missense

c.1153C>T; p.R385W; 11:104997388-104997388

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1153C>T; p.R385W; 11:104997388-104997388

skinmalignant_melanomaSubstitution - Missense

c.1153C>T; p.R385W; 11:104997388-104997388

skinmalignant_melanomaSubstitution - Missense

c.252G>T; p.K84N; 11:105007216-105007216

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.775G>A; p.G259R; 11:105000390-105000390

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.495G>T; p.E165D; 11:105003274-105003274

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.477_478insA; p.N162fs*3; 11:105003291-105003292

lungcarcinoma; non_small_cell_carcinomaInsertion - Frameshift

c.684G>A; p.V228V; 11:105000481-105000481

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.15C>A; p.I5I; 11:105008925-105008925

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.446T>A; p.L149H; 11:105003323-105003323

livercarcinomaSubstitution - Missense

c.519G>C; p.E173D; 11:105002178-105002178

livercarcinomaSubstitution - Missense

c.1251C>A; p.G417G; 11:104995750-104995750

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.519G>C; p.E173D; 11:105002178-105002178

livercarcinomaSubstitution - Missense

c.519G>C; p.E173D; 11:105002178-105002178

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.311G>A; p.R104Q; 11:105007157-105007157

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.291G>A; p.L97L; 11:105007177-105007177

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.635_636AC>TT; p.Y212F; 11:105002061-105002062

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.543C>T; p.I181I; 11:105002154-105002154

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1089C>T; p.F363F; 11:104997452-104997452

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1048C>T; p.H350Y; 11:104998885-104998885

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.522C>G; p.D174E; 11:105002175-105002175

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.153_154delAA; p.K51fs*3; 11:105007314-105007315

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.153_154delAA; p.K51fs*3; 11:105007314-105007315

oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.40G>A; p.V14M; 11:105008900-105008900

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.286G>C; p.A96P; 11:105007182-105007182

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.223G>A; p.D75N; 11:105007245-105007245

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.223G>A; p.D75N; 11:105007245-105007245

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.812T>G; p.L271R; 11:105000353-105000353

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.135A>C; p.K45N; 11:105007333-105007333

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.822C>A; p.T274T; 11:105000343-105000343

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.452C>A; p.P151H; 11:105003317-105003317

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1158G>T; p.K386N; 11:104997383-104997383

pancreascarcinomaSubstitution - Missense

c.399C>T; p.I133I; 11:105003370-105003370

skinmalignant_melanomaSubstitution - coding silent

c.364C>T; p.Q122*; 11:105007104-105007104

skinmalignant_melanomaSubstitution - Nonsense

c.481A>C; p.K161Q; 11:105003288-105003288

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.485_486insA; p.N162fs*3; 11:105003283-105003284

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.562G>C; p.D188H; 11:105002135-105002135

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1169C>A; p.S390*; 11:104995832-104995832

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1169C>A; p.S390*; 11:104995832-104995832

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.892G>A; p.A298T; 11:105000273-105000273

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.909A>C; p.K303N; 11:104999024-104999024

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.385+7T>C; p.?; 11:105007076-105007076

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.385+7T>C; p.?; 11:105007076-105007076

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.385+7T>C; p.?; 11:105007076-105007076

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.346A>G; p.T116A; 11:105007122-105007122

skinmalignant_melanomaSubstitution - Missense

c.485delA; p.N162fs*8; 11:105003284-105003284

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.485delA; p.N162fs*8; 11:105003284-105003284

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.485delA; p.N162fs*8; 11:105003284-105003284

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.485delA; p.N162fs*8; 11:105003284-105003284

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.485delA; p.N162fs*8; 11:105003284-105003284

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.534G>A; p.L178L; 11:105002163-105002163

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.305C>G; p.S102C; 11:105007163-105007163

breastcarcinomaSubstitution - Missense

c.305C>G; p.S102C; 11:105007163-105007163

urinary_tract; bladdercarcinomaSubstitution - Missense

c.749C>T; p.S250F; 11:105000416-105000416

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1086C>T; p.I362I; 11:104997455-104997455

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.959C>T; p.S320F; 11:104998974-104998974

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.385C>T; p.P129S; 11:105007083-105007083

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1159-8T>C; p.?; 11:104995850-104995850

livercarcinomaUnknown

c.1159-8T>C; p.?; 11:104995850-104995850

livercarcinomaUnknown

c.1159-8T>C; p.?; 11:104995850-104995850

livercarcinomaUnknown

c.664G>A; p.A222T; 11:105002033-105002033

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.872C>G; p.P291R; 11:105000293-105000293

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.519G>T; p.E173D; 11:105002178-105002178

oesophaguscarcinomaSubstitution - Missense

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.468G>C; p.L156L; 11:105003301-105003301

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.137A>G; p.D46G; 11:105007331-105007331

livercarcinomaSubstitution - Missense

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

livercarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.154delA; p.T52fs*26; 11:105007314-105007314

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.107C>T; p.T36M; 11:105008833-105008833

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.107C>T; p.T36M; 11:105008833-105008833

thyroidcarcinomaSubstitution - Missense

c.176T>C; p.L59P; 11:105007292-105007292

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.325G>A; p.A109T; 11:105007143-105007143

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.581A>T; p.N194I; 11:105002116-105002116

breastcarcinomaSubstitution - Missense

c.241G>A; p.E81K; 11:105007227-105007227

skinmalignant_melanomaSubstitution - Missense

c.241G>A; p.E81K; 11:105007227-105007227

skinmalignant_melanomaSubstitution - Missense


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