Cancer metastasis database

Annotation category 5

Gene information

Gene ID 7531
Symbol

YWHAE

Synonymous

14-3-3E|HEL2|KCIP-1|MDCR|MDS

Full name

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon

Gene description

14-3-3 epsilon|14-3-3 protein epsilon|epididymis luminal protein 2|mitochondrial import stimulation factor L subunit|protein kinase C inhibitor protein-1|tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide|tyrosine

Cytoband

17p13.3

Gene type

protein-coding

Synonymous

MIM:605066; HGNC:HGNC:12851; Ensembl:ENSG00000108953; HPRD:05457; Vega:OTTHUMG00000134316

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.43G>T; p.E15*; 17:1400068-1400068

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.470A>T; p.D157V; 17:1361200-1361200

 thyroidcarcinomaSubstitution - Missense

c.422G>A; p.R141K; 17:1361248-1361248

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.132C>T; p.L44L; 17:1364991-1364991

 thyroidother; neoplasmSubstitution - coding silent

c.752A>C; p.E251A; 17:1345463-1345463

 pancreascarcinoma; adenocarcinomaSubstitution - Missense

c.32C>T; p.A11V; 17:1400079-1400079

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.508C>T; p.R170C; 17:1361162-1361162

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.683T>G; p.L228R; 17:1354243-1354243

 livercarcinomaSubstitution - Missense

c.683T>G; p.L228R; 17:1354243-1354243

 livercarcinomaSubstitution - Missense

c.265-3delT; p.?; 17:1362011-1362011

 pancreascarcinoma; acinar_carcinomaUnknown

c.682_683delCT; p.L228fs*10; 17:1354243-1354244

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.597T>C; p.F199F; 17:1354329-1354329

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.374A>C; p.K125T; 17:1361296-1361296

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.737C>T; p.A246V; 17:1345478-1345478

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.150G>C; p.K50N; 17:1364973-1364973

 central_nervous_system; braingliomaSubstitution - Missense

c.288C>T; p.I96I; 17:1361985-1361985

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.698C>G; p.S233*; 17:1354228-1354228

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.684G>C; p.L228L; 17:1354242-1354242

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.347A>T; p.E116V; 17:1361926-1361926

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.671T>C; p.L224S; 17:1354255-1354255

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.264G>C; p.M88I; 17:1364859-1364859

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.498G>A; p.T166T; 17:1361172-1361172

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.324C>G; p.L108L; 17:1361949-1361949

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.498G>A; p.T166T; 17:1361172-1361172

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.366T>C; p.Y122Y; 17:1361907-1361907

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.733G>C; p.E245Q; 17:1345482-1345482

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.403T>A; p.F135I; 17:1361267-1361267

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.403T>A; p.F135I; 17:1361267-1361267

 kidneyother; neoplasmSubstitution - Missense

c.63C>T; p.D21D; 17:1400048-1400048

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.125G>T; p.R42I; 17:1364998-1364998

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.125G>T; p.R42I; 17:1364998-1364998

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.63C>G; p.D21E; 17:1400048-1400048

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.166A>G; p.R56G; 17:1364957-1364957

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.63C>G; p.D21E; 17:1400048-1400048

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.10C>T; p.R4*; 17:1400101-1400101

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.583G>A; p.A195T; 17:1354343-1354343

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.146A>G; p.Y49C; 17:1364977-1364977

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.607A>G; p.I203V; 17:1354319-1354319

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.659T>C; p.I220T; 17:1354267-1354267

 pancreascarcinomaSubstitution - Missense

c.446T>G; p.L149R; 17:1361224-1361224

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.258G>A; p.R86R; 17:1364865-1364865

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.130C>T; p.L44F; 17:1364993-1364993

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.747C>T; p.D249D; 17:1345468-1345468

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.471T>C; p.D157D; 17:1361199-1361199

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.39G>T; p.L13L; 17:1400072-1400072

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.560C>T; p.S187F; 17:1361110-1361110

 skinmalignant_melanomaSubstitution - Missense

c.323T>C; p.L108P; 17:1361950-1361950

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.65-4A>C; p.?; 17:1365062-1365062

 urinary_tract; bladdercarcinomaUnknown

c.64+7T>G; p.?; 17:1400040-1400040

 stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.598G>C; p.D200H; 17:1354328-1354328

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.660C>T; p.I220I; 17:1354266-1354266

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.660C>T; p.I220I; 17:1354266-1354266

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.616C>T; p.L206L; 17:1354310-1354310

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent