Cancer metastasis database

Annotation category 5

Gene information

Gene ID 7122
Symbol

CLDN5

Synonymous

AWAL|BEC1|CPETRL1|TMVCF

Full name

claudin 5

Gene description

TMDVCF|claudin-5|transmembrane protein deleted in VCFS|transmembrane protein deleted in velocardiofacial syndrome

Cytoband

22q11.21

Gene type

protein-coding

Synonymous

MIM:602101; HGNC:HGNC:2047; Ensembl:ENSG00000184113; HPRD:03654; Vega:OTTHUMG00000150441

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.577G>T; p.D193Y; 22:19523679-19523679

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.465G>A; p.S155S; 22:19523791-19523791

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.253G>A; p.V85M; 22:19524003-19524003

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.253G>A; p.V85M; 22:19524003-19524003

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.453T>C; p.S151S; 22:19523803-19523803

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.59delG; p.G20fs*2; 22:19524197-19524197

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.59delG; p.G20fs*2; 22:19524197-19524197

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.59delG; p.G20fs*2; 22:19524197-19524197

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.59delG; p.G20fs*2; 22:19524197-19524197

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.59delG; p.G20fs*2; 22:19524197-19524197

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.419C>T; p.A140V; 22:19523837-19523837

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.645_647delGAA; p.K215delK; 22:19523609-19523611

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.407T>A; p.L136H; 22:19523849-19523849

 haematopoietic_and_lymphoid_tissue; abdomenlymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.384C>T; p.C128C; 22:19523872-19523872

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.16T>C; p.L6L; 22:19524240-19524240

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.591C>A; p.P197P; 22:19523665-19523665

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.616C>G; p.P206A; 22:19523640-19523640

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.232C>A; p.Q78K; 22:19524024-19524024

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.645G>T; p.K215N; 22:19523611-19523611

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.489G>A; p.A163A; 22:19523767-19523767

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.631G>A; p.D211N; 22:19523625-19523625

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.128C>T; p.A43V; 22:19524128-19524128

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.637_639delGAC; p.D213delD; 22:19523617-19523619

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.429C>T; p.V143V; 22:19523827-19523827

 prostatecarcinomaSubstitution - coding silent

c.353C>T; p.A118V; 22:19523903-19523903

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.160T>C; p.C54R; 22:19524096-19524096

 breastcarcinomaSubstitution - Missense

c.145G>A; p.G49R; 22:19524111-19524111

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.240G>A; p.A80A; 22:19524016-19524016

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.75C>T; p.C25C; 22:19524181-19524181

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.195A>C; p.K65N; 22:19524061-19524061

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense