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

Basic Information

Gene ID

9076

Name

CLDN1

Synonymous

claudin 1;CLDN1;claudin 1

Definition

claudin-1|senescence-associated epithelial membrane protein 1

Position

3q28-q29

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 0.18.

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.108C>T; p.A36A; 3:190322099-190322099

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.459C>T; p.T153T; 3:190310183-190310183

 skinmalignant_melanomaSubstitution - coding silent

c.181C>T; p.Q61*; 3:190322026-190322026

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.634T>C; p.*212R; 3:190308279-190308279

 livercarcinomaNonstop extension

c.177C>T; p.T59T; 3:190322030-190322030

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.470C>T; p.A157V; 3:190310172-190310172

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.169C>T; p.Q57*; 3:190322038-190322038

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.202G>A; p.D68N; 3:190322005-190322005

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.202G>A; p.D68N; 3:190322005-190322005

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.439G>T; p.E147*; 3:190310203-190310203

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.439G>T; p.E147*; 3:190310203-190310203

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.121G>A; p.V41M; 3:190322086-190322086

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.631G>C; p.V211L; 3:190308282-190308282

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.636A>C; p.*212C; 3:190308277-190308277

 lungcarcinoma; squamous_cell_carcinomaNonstop extension

c.370G>A; p.A124T; 3:190312890-190312890

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.129C>T; p.A43A; 3:190322078-190322078

 skinmalignant_melanomaSubstitution - coding silent

c.371C>T; p.A124V; 3:190312889-190312889

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.370G>A; p.A124T; 3:190312890-190312890

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.562C>G; p.R188G; 3:190308351-190308351

 livercarcinomaSubstitution - Missense

c.298G>A; p.V100I; 3:190312962-190312962

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.600A>C; p.P200P; 3:190308313-190308313

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.142G>A; p.E48K; 3:190322065-190322065

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.461C>T; p.P154L; 3:190310181-190310181

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.331G>A; p.D111N; 3:190312929-190312929

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.331G>A; p.D111N; 3:190312929-190312929

 skinmalignant_melanomaSubstitution - Missense

c.509C>T; p.A170V; 3:190308404-190308404

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.160T>C; p.C54R; 3:190322047-190322047

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.509C>T; p.A170V; 3:190308404-190308404

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.183G>A; p.Q61Q; 3:190322024-190322024

 skinmalignant_melanomaSubstitution - coding silent

c.254T>G; p.V85G; 3:190313006-190313006

 breastcarcinomaSubstitution - Missense

c.631G>A; p.V211M; 3:190308282-190308282

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.561C>T; p.P187P; 3:190308352-190308352

 skinmalignant_melanomaSubstitution - coding silent

c.57C>T; p.I19I; 3:190322150-190322150

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.60C>T; p.G20G; 3:190322147-190322147

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.621G>A; p.G207G; 3:190308292-190308292

 skinmalignant_melanomaSubstitution - coding silent

c.194_195delAA; p.K65fs*3; 3:190322012-190322013

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.473+5C>T; p.?; 3:190310164-190310164

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.372G>A; p.A124A; 3:190312888-190312888

 skinmalignant_melanomaSubstitution - coding silent

c.510T>C; p.A170A; 3:190308403-190308403

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.510T>C; p.A170A; 3:190308403-190308403

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.510T>C; p.A170A; 3:190308403-190308403

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.428G>T; p.R143I; 3:190310214-190310214

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.314T>C; p.M105T; 3:190312946-190312946

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.478G>A; p.E160K; 3:190308435-190308435

 skinmalignant_melanomaSubstitution - Missense

c.478G>A; p.E160K; 3:190308435-190308435

 skinmalignant_melanomaSubstitution - Missense

c.488A>T; p.Q163L; 3:190308425-190308425

 breastcarcinomaSubstitution - Missense

c.231G>A; p.L77L; 3:190313029-190313029

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.520C>T; p.L174F; 3:190308393-190308393

 skinmalignant_melanomaSubstitution - Missense

c.306G>A; p.M102I; 3:190312954-190312954

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.240C>T; p.T80T; 3:190313020-190313020

 skinmalignant_melanomaSubstitution - coding silent

c.178G>A; p.G60R; 3:190322029-190322029

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.325G>C; p.E109Q; 3:190312935-190312935

 haematopoietic_and_lymphoid_tissue; soft_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.28G>C; p.G10R; 3:190322179-190322179

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.336G>T; p.E112D; 3:190312924-190312924

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.336G>T; p.E112D; 3:190312924-190312924

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.450C>T; p.D150D; 3:190310192-190310192

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.316A>G; p.K106E; 3:190312944-190312944

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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