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

Basic Information

Gene ID

23705

Name

CADM1

Synonymous

cell adhesion molecule 1;CADM1;cell adhesion molecule 1

Definition

TSLC-1|TSLC1/Nectin-like 2/IGSF4|immunoglobulin superfamily member 4|immunoglobulin superfamily, member 4|immunoglobulin superfamily, member 4D variant 1|immunoglobulin superfamily, member 4D variant 2|nectin-like 2|nectin-like protein 2|spermatogenic imm

Position

11q23.2

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 0.13.

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.427C>A; p.P143T; 11:115231488-115231488

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.614T>C; p.L205P; 11:115229220-115229220

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.135G>T; p.Q45H; 11:115240410-115240410

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.998C>A; p.P333H; 11:115209654-115209654

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.154G>A; p.V52M; 11:115240391-115240391

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1087G>T; p.A363S; 11:115178767-115178767

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.477T>C; p.G159G; 11:115231438-115231438

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.531C>T; p.I177I; 11:115231384-115231384

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.874G>A; p.V292I; 11:115214728-115214728

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1255G>C; p.D419H; 11:115176548-115176548

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1029C>A; p.T343T; 11:115209623-115209623

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1029C>A; p.T343T; 11:115209623-115209623

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1029C>A; p.T343T; 11:115209623-115209623

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1029C>A; p.T343T; 11:115209623-115209623

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1029C>A; p.T343T; 11:115209623-115209623

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1029C>A; p.T343T; 11:115209623-115209623

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1029C>A; p.T343T; 11:115209623-115209623

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1029C>A; p.T343T; 11:115209623-115209623

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1029C>A; p.T343T; 11:115209623-115209623

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1029C>A; p.T343T; 11:115209623-115209623

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1029C>A; p.T343T; 11:115209623-115209623

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1029C>A; p.T343T; 11:115209623-115209623

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1029C>A; p.T343T; 11:115209623-115209623

 central_nervous_system; braingliomaSubstitution - coding silent

c.1029C>A; p.T343T; 11:115209623-115209623

 central_nervous_system; braingliomaSubstitution - coding silent

c.1146G>A; p.A382A; 11:115178708-115178708

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.712G>T; p.E238*; 11:115229122-115229122

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.301A>C; p.N101H; 11:115238623-115238623

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.337A>G; p.N113D; 11:115238587-115238587

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.619C>T; p.L207L; 11:115229215-115229215

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.107C>T; p.A36V; 11:115504288-115504288

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1329G>T; p.*443Y; 11:115176474-115176474

 prostatecarcinoma; adenocarcinomaNonstop extension

c.454C>T; p.Q152*; 11:115231461-115231461

 skinmalignant_melanomaSubstitution - Nonsense

c.352G>C; p.D118H; 11:115238572-115238572

 breastcarcinomaSubstitution - Missense

c.850G>A; p.D284N; 11:115214752-115214752

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.302A>G; p.N101S; 11:115238622-115238622

 central_nervous_system; braingliomaSubstitution - Missense

c.1058_1060delCCA; p.T353delT; 11:115209592-115209594

 breastcarcinomaDeletion - In frame

c.1058_1060delCCA; p.T353delT; 11:115209592-115209594

 breastcarcinomaDeletion - In frame

c.1058_1060delCCA; p.T353delT; 11:115209592-115209594

 NSmalignant_melanomaDeletion - In frame

c.1058_1060delCCA; p.T353delT; 11:115209592-115209594

 NSmalignant_melanomaDeletion - In frame

c.908T>A; p.L303Q; 11:115214694-115214694

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.908T>A; p.L303Q; 11:115214694-115214694

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.218T>C; p.V73A; 11:115240327-115240327

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.467C>T; p.A156V; 11:115231448-115231448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.467C>T; p.A156V; 11:115231448-115231448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.489A>C; p.E163D; 11:115231426-115231426

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.481G>A; p.E161K; 11:115231434-115231434

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.672C>T; p.H224H; 11:115229162-115229162

 skinmalignant_melanomaSubstitution - coding silent

c.495C>A; p.N165K; 11:115231420-115231420

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.740T>A; p.I247N; 11:115217973-115217973

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1248C>T; p.D416D; 11:115176555-115176555

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1248C>T; p.D416D; 11:115176555-115176555

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1034C>A; p.T345N; 11:115209618-115209618

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.1158C>T; p.F386F; 11:115178696-115178696

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1035C>T; p.T345T; 11:115209617-115209617

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.935G>A; p.R312H; 11:115214667-115214667

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.303_304insC; p.F102fs*3; 11:115238620-115238621

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.935G>A; p.R312H; 11:115214667-115214667

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.433C>T; p.R145C; 11:115231482-115231482

 pancreascarcinomaSubstitution - Missense

c.703C>T; p.R235W; 11:115229131-115229131

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1060_1061insCCA; p.T353_I354insT; 11:115209591-115209592

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourInsertion - In frame

c.1060_1061insCCA; p.T353_I354insT; 11:115209591-115209592

 livercarcinoma; hepatocellular_carcinomaInsertion - In frame

c.1085G>A; p.R362Q; 11:115178769-115178769

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.520G>A; p.A174T; 11:115231395-115231395

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.189T>G; p.S63R; 11:115240356-115240356

 oesophaguscarcinomaSubstitution - Missense

c.921T>C; p.D307D; 11:115214681-115214681

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.639C>T; p.D213D; 11:115229195-115229195

 livercarcinomaSubstitution - coding silent

c.1283_1285delAAG; p.E428delE; 11:115176518-115176520

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.598A>T; p.T200S; 11:115229236-115229236

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1258G>A; p.A420T; 11:115176545-115176545

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1258G>A; p.A420T; 11:115176545-115176545

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.687A>G; p.G229G; 11:115229147-115229147

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.78_83delCCGGCT; p.R27_L28delRL; 11:115504312-115504317

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - In frame

c.78_83delCCGGCT; p.R27_L28delRL; 11:115504312-115504317

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - In frame

c.78_83delCCGGCT; p.R27_L28delRL; 11:115504312-115504317

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.781G>A; p.D261N; 11:115217932-115217932

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.890A>G; p.N297S; 11:115214712-115214712

 skinmalignant_melanomaSubstitution - Missense

c.78_83delCCGGCT; p.R27_L28delRL; 11:115504312-115504317

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - In frame

c.78_83delCCGGCT; p.R27_L28delRL; 11:115504312-115504317

 skinmalignant_melanomaDeletion - In frame

c.78_83delCCGGCT; p.R27_L28delRL; 11:115504312-115504317

 breastcarcinomaDeletion - In frame

c.78_83delCCGGCT; p.R27_L28delRL; 11:115504312-115504317

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.531C>G; p.I177M; 11:115231384-115231384

 thyroidcarcinomaSubstitution - Missense

c.1189C>T; p.R397C; 11:115178665-115178665

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.179C>T; p.A60V; 11:115240366-115240366

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.884G>A; p.G295E; 11:115214718-115214718

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.579A>T; p.E193D; 11:115229255-115229255

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1238G>A; p.G413E; 11:115176565-115176565

 skinmalignant_melanomaSubstitution - Missense

c.271C>T; p.P91S; 11:115240274-115240274

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.248C>G; p.T83S; 11:115240297-115240297

 oesophaguscarcinomaSubstitution - Missense

c.13G>C; p.V5L; 11:115504382-115504382

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1007C>A; p.T336N; 11:115209645-115209645

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.13G>C; p.V5L; 11:115504382-115504382

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.649C>A; p.P217T; 11:115229185-115229185

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.810C>T; p.I270I; 11:115217903-115217903

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.439C>A; p.L147M; 11:115231476-115231476

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1178T>C; p.I393T; 11:115178676-115178676

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.749C>T; p.T250I; 11:115217964-115217964

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.439C>A; p.L147M; 11:115231476-115231476

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.715G>T; p.V239L; 11:115229119-115229119

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.176T>C; p.V59A; 11:115240369-115240369

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.685G>A; p.G229R; 11:115229149-115229149

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.434G>A; p.R145H; 11:115231481-115231481

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.64C>T; p.P22S; 11:115504331-115504331

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.490G>A; p.V164I; 11:115231425-115231425

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemiaSubstitution - Missense

c.490G>A; p.V164I; 11:115231425-115231425

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemiaSubstitution - Missense

c.865C>G; p.Q289E; 11:115214737-115214737

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1133G>T; p.G378V; 11:115178721-115178721

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1236A>G; p.K412K; 11:115176567-115176567

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.502G>A; p.A168T; 11:115231413-115231413

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.124G>A; p.G42S; 11:115504271-115504271

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.785C>T; p.A262V; 11:115217928-115217928

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1224T>C; p.T408T; 11:115176579-115176579

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.213C>A; p.D71E; 11:115240332-115240332

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.784G>A; p.A262T; 11:115217929-115217929

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.652G>T; p.V218L; 11:115229182-115229182

 livercarcinomaSubstitution - Missense

c.769A>C; p.T257P; 11:115217944-115217944

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.678G>A; p.A226A; 11:115229156-115229156

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1147G>T; p.V383L; 11:115178707-115178707

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.739A>G; p.I247V; 11:115217974-115217974

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.472G>C; p.E158Q; 11:115231443-115231443

 breastcarcinomaSubstitution - Missense

c.1174C>T; p.L392F; 11:115178680-115178680

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1140C>T; p.V380V; 11:115178714-115178714

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.156G>T; p.V52V; 11:115240389-115240389

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.156G>T; p.V52V; 11:115240389-115240389

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.385G>A; p.D129N; 11:115238539-115238539

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.448G>A; p.D150N; 11:115231467-115231467

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1323C>A; p.F441L; 11:115176480-115176480

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.463A>G; p.T155A; 11:115231452-115231452

 livercarcinomaSubstitution - Missense

c.1286G>A; p.G429E; 11:115176517-115176517

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.569C>T; p.S190L; 11:115229265-115229265

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.569C>T; p.S190L; 11:115229265-115229265

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.569C>T; p.S190L; 11:115229265-115229265

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.569C>T; p.S190L; 11:115229265-115229265

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.186C>T; p.I62I; 11:115240359-115240359

 breastcarcinomaSubstitution - coding silent

c.187A>C; p.S63R; 11:115240358-115240358

 large_intestine; colonNSSubstitution - Missense

c.704G>A; p.R235Q; 11:115229130-115229130

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.704G>A; p.R235Q; 11:115229130-115229130

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.165C>T; p.I55I; 11:115240380-115240380

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.795A>G; p.L265L; 11:115217918-115217918

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.814A>G; p.K272E; 11:115217899-115217899

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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