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

Basic Information

Gene ID

199731

Name

CADM4

Synonymous

cell adhesion molecule 4;CADM4;cell adhesion molecule 4

Definition

TSLC1-like 2|TSLC1-like protein 2|immunoglobulin superfamily member 4C|immunoglobulin superfamily, member 4C|nectin-like 4|nectin-like protein 4

Position

19q13.31

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 0.20.

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.284G>A; p.R95H; 19:43627246-43627246

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1153G>A; p.E385K; 19:43623344-43623344

 skinmalignant_melanomaSubstitution - Missense

c.1153G>A; p.E385K; 19:43623344-43623344

 skinmalignant_melanomaSubstitution - Missense

c.1153G>A; p.E385K; 19:43623344-43623344

 skinmalignant_melanomaSubstitution - Missense

c.88G>T; p.E30*; 19:43627767-43627767

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1048C>T; p.R350W; 19:43624123-43624123

 pancreascarcinomaSubstitution - Missense

c.340C>T; p.Q114*; 19:43627190-43627190

 skinmalignant_melanomaSubstitution - Nonsense

c.384G>T; p.V128V; 19:43626899-43626899

 skinmalignant_melanomaSubstitution - coding silent

c.438C>T; p.L146L; 19:43626845-43626845

 skinmalignant_melanomaSubstitution - coding silent

c.436C>T; p.L146F; 19:43626847-43626847

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.912C>T; p.Y304Y; 19:43625094-43625094

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.394C>T; p.R132W; 19:43626889-43626889

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.226C>T; p.R76C; 19:43627304-43627304

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.351G>A; p.T117T; 19:43627179-43627179

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.469C>T; p.R157C; 19:43626814-43626814

 livercarcinomaSubstitution - Missense

c.469C>T; p.R157C; 19:43626814-43626814

 livercarcinomaSubstitution - Missense

c.641C>T; p.T214M; 19:43626147-43626147

 breastcarcinomaSubstitution - Missense

c.603G>A; p.A201A; 19:43626185-43626185

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.473G>A; p.W158*; 19:43626810-43626810

 skinmalignant_melanomaSubstitution - Nonsense

c.1155A>G; p.E385E; 19:43623342-43623342

 breastcarcinomaSubstitution - coding silent

c.559C>T; p.R187C; 19:43626229-43626229

 skinmalignant_melanomaSubstitution - Missense

c.1111G>A; p.E371K; 19:43623386-43623386

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.450C>A; p.S150S; 19:43626833-43626833

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.181C>T; p.R61W; 19:43627674-43627674

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.395G>A; p.R132Q; 19:43626888-43626888

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.395G>A; p.R132Q; 19:43626888-43626888

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.783_789delGAATGAG; p.N262fs*52; 19:43625217-43625223

 breastcarcinomaDeletion - Frameshift

c.159A>G; p.I53M; 19:43627696-43627696

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1134C>T; p.D378D; 19:43623363-43623363

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.133C>T; p.R45C; 19:43627722-43627722

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.928G>T; p.D310Y; 19:43625078-43625078

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.262C>T; p.R88W; 19:43627268-43627268

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.828C>T; p.L276L; 19:43625178-43625178

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.478C>T; p.R160W; 19:43626805-43626805

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1137A>G; p.G379G; 19:43623360-43623360

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.501A>G; p.G167G; 19:43626287-43626287

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.470G>A; p.R157H; 19:43626813-43626813

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1053G>A; p.Q351Q; 19:43624118-43624118

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.259G>A; p.V87M; 19:43627271-43627271

 prostatecarcinomaSubstitution - Missense

c.102G>A; p.V34V; 19:43627753-43627753

 skinmalignant_melanomaSubstitution - coding silent

c.119C>T; p.A40V; 19:43627736-43627736

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1011C>T; p.I337I; 19:43624160-43624160

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.837G>A; p.P279P; 19:43625169-43625169

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.583G>T; p.G195C; 19:43626205-43626205

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.444G>A; p.P148P; 19:43626839-43626839

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1132G>A; p.D378N; 19:43623365-43623365

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.979G>A; p.G327S; 19:43624192-43624192

 skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.434G>A; p.C145Y; 19:43626849-43626849

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.422T>G; p.V141G; 19:43626861-43626861

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1035C>T; p.V345V; 19:43624136-43624136

 skinmalignant_melanomaSubstitution - coding silent

c.369C>T; p.A123A; 19:43626914-43626914

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1111G>T; p.E371*; 19:43623386-43623386

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.65-1G>T; p.?; 19:43627791-43627791

 lungcarcinoma; adenocarcinomaUnknown

c.642G>A; p.T214T; 19:43626146-43626146

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.395G>T; p.R132L; 19:43626888-43626888

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.265A>T; p.I89F; 19:43627265-43627265

 skinmalignant_melanomaSubstitution - Missense

c.568C>T; p.R190C; 19:43626220-43626220

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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