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

Basic Information

Gene ID

55591

Name

VEZT

Synonymous

vezatin, adherens junctions transmembrane protein;VEZT;vezatin, adherens junctions transmembrane protein

Definition

vezatin

Position

12q22

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 0.26.

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.662C>T; p.A221V; 12:95266584-95266584

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1994G>C; p.C665S; 12:95300327-95300327

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1572G>A; p.L524L; 12:95294321-95294321

 breastcarcinomaSubstitution - coding silent

c.1550C>A; p.P517Q; 12:95294299-95294299

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1786G>C; p.E596Q; 12:95296213-95296213

 breastcarcinomaSubstitution - Missense

c.75C>T; p.H25H; 12:95251978-95251978

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2323G>T; p.E775*; 12:95300656-95300656

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1411C>T; p.L471L; 12:95287746-95287746

 skinmalignant_melanomaSubstitution - coding silent

c.187G>T; p.V63L; 12:95257168-95257168

 pancreascarcinomaSubstitution - Missense

c.1910G>T; p.G637V; 12:95300243-95300243

 breastcarcinomaSubstitution - Missense

c.2030C>A; p.S677Y; 12:95300363-95300363

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.785T>C; p.V262A; 12:95270125-95270125

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.785T>C; p.V262A; 12:95270125-95270125

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.902C>A; p.P301H; 12:95274795-95274795

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.206G>T; p.S69I; 12:95257187-95257187

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaSubstitution - Missense

c.956C>T; p.A319V; 12:95274849-95274849

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1044G>T; p.R348R; 12:95282360-95282360

 skinmalignant_melanomaSubstitution - coding silent

c.2172G>A; p.Q724Q; 12:95300505-95300505

 skinmalignant_melanomaSubstitution - coding silent

c.710+1G>T; p.?; 12:95266633-95266633

 lungcarcinoma; adenocarcinomaUnknown

c.775C>T; p.R259W; 12:95270115-95270115

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.254A>C; p.K85T; 12:95257235-95257235

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4A>G; p.T2A; 12:95217854-95217854

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1431G>T; p.L477F; 12:95287766-95287766

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.419C>T; p.A140V; 12:95263066-95263066

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.423C>T; p.T141T; 12:95263070-95263070

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1985A>C; p.E662A; 12:95300318-95300318

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.87A>T; p.E29D; 12:95251990-95251990

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1786G>A; p.E596K; 12:95296213-95296213

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.944C>T; p.S315L; 12:95274837-95274837

 skinmalignant_melanomaSubstitution - Missense

c.946G>C; p.E316Q; 12:95274839-95274839

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.237A>G; p.K79K; 12:95257218-95257218

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1167_1168GG>AA; p.E390K; 12:95282483-95282484

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.471C>T; p.L157L; 12:95266393-95266393

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2076C>T; p.Y692Y; 12:95300409-95300409

 skinmalignant_melanomaSubstitution - coding silent

c.19G>A; p.E7K; 12:95217869-95217869

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1207G>A; p.E403K; 12:95282523-95282523

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1723G>A; p.E575K; 12:95296150-95296150

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1828C>A; p.H610N; 12:95296255-95296255

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.207T>A; p.S69R; 12:95257188-95257188

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.207T>A; p.S69R; 12:95257188-95257188

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.22G>C; p.E8Q; 12:95217872-95217872

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1989T>G; p.Y663*; 12:95300322-95300322

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1764T>G; p.S588S; 12:95296191-95296191

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2122A>G; p.T708A; 12:95300455-95300455

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1563A>T; p.V521V; 12:95294312-95294312

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.548G>C; p.R183T; 12:95266470-95266470

 thyroidcarcinomaSubstitution - Missense

c.1266A>G; p.E422E; 12:95282582-95282582

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.506_507GG>TT; p.W169F; 12:95266428-95266429

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.85G>A; p.E29K; 12:95251988-95251988

 breastcarcinomaSubstitution - Missense

c.1061C>A; p.S354Y; 12:95282377-95282377

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.707C>T; p.T236I; 12:95266629-95266629

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1833C>T; p.A611A; 12:95300166-95300166

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2131C>T; p.P711S; 12:95300464-95300464

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1405C>G; p.P469A; 12:95287740-95287740

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.893G>A; p.C298Y; 12:95274786-95274786

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1229C>T; p.P410L; 12:95282545-95282545

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1112A>C; p.H371P; 12:95282428-95282428

 large_intestine; colonadenomaSubstitution - Missense

c.1365T>G; p.V455V; 12:95287700-95287700

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1035C>A; p.F345L; 12:95282351-95282351

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.276C>T; p.L92L; 12:95262923-95262923

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.408T>C; p.L136L; 12:95263055-95263055

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.271C>A; p.R91R; 12:95262918-95262918

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1488C>T; p.V496V; 12:95287823-95287823

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1488C>T; p.V496V; 12:95287823-95287823

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.333G>T; p.L111L; 12:95262980-95262980

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1291C>G; p.R431G; 12:95282607-95282607

 large_intestine; caecumadenomaSubstitution - Missense

c.1117A>G; p.I373V; 12:95282433-95282433

 livercarcinomaSubstitution - Missense

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.212delT; p.S74fs*38; 12:95257193-95257193

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1616A>G; p.E539G; 12:95294365-95294365

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.417G>A; p.L139L; 12:95263064-95263064

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.64G>T; p.D22Y; 12:95251967-95251967

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.130G>A; p.E44K; 12:95252033-95252033

 breastcarcinomaSubstitution - Missense

c.346G>C; p.D116H; 12:95262993-95262993

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1736C>T; p.S579F; 12:95296163-95296163

 skinmalignant_melanomaSubstitution - Missense

c.2158C>T; p.P720S; 12:95300491-95300491

 skinmalignant_melanomaSubstitution - Missense

c.1516delA; p.G508fs*5; 12:95287851-95287851

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1699G>A; p.E567K; 12:95296126-95296126

 breastcarcinomaSubstitution - Missense

c.875A>G; p.N292S; 12:95274768-95274768

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1725G>T; p.E575D; 12:95296152-95296152

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.197C>T; p.T66I; 12:95257178-95257178

 lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1137A>G; p.Q379Q; 12:95282453-95282453

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1834G>A; p.V612M; 12:95300167-95300167

 thyroidother; neoplasmSubstitution - Missense

c.591delA; p.K199fs*20; 12:95266513-95266513

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.591delA; p.K199fs*20; 12:95266513-95266513

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1300C>T; p.Q434*; 12:95282616-95282616

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1256A>G; p.K419R; 12:95282572-95282572

 livercarcinomaSubstitution - Missense

c.1291C>T; p.R431C; 12:95282607-95282607

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1256A>G; p.K419R; 12:95282572-95282572

 livercarcinomaSubstitution - Missense

c.1035C>T; p.F345F; 12:95282351-95282351

 skinmalignant_melanomaSubstitution - coding silent

c.2329G>T; p.E777*; 12:95300662-95300662

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.424C>T; p.P142S; 12:95263071-95263071

 skinmalignant_melanomaSubstitution - Missense

c.618T>C; p.D206D; 12:95266540-95266540

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.997-3A>C; p.?; 12:95282310-95282310

 livercarcinomaUnknown

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