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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

7030

Name

TFE3

Synonymous

transcription factor binding to IGHM enhancer 3;TFE3;transcription factor binding to IGHM enhancer 3

Definition

class E basic helix-loop-helix protein 33|transcription factor E family, member A|transcription factor E3|transcription factor for IgH enhancer|transcription factor for immunoglobulin heavy-chain enhancer 3

Position

Xp11.22

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.47C>A; p.A16E; 23:49043180-49043180

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.613A>G; p.T205A; 23:49038364-49038364

 breastcarcinomaSubstitution - Missense

c.1511A>C; p.H504P; 23:49030375-49030375

 breastcarcinomaSubstitution - Missense

c.1551C>T; p.F517F; 23:49030335-49030335

 breastcarcinomaSubstitution - coding silent

c.1527C>A; p.H509Q; 23:49030359-49030359

 central_nervous_system; braingliomaSubstitution - Missense

c.373G>A; p.A125T; 23:49039268-49039268

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1323A>C; p.V441V; 23:49030563-49030563

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1210C>T; p.Q404*; 23:49031471-49031471

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.1090G>A; p.D364N; 23:49033511-49033511

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1022T>C; p.L341P; 23:49033764-49033764

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.52G>C; p.G18R; 23:49043175-49043175

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1456A>T; p.N486Y; 23:49030430-49030430

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.478delG; p.G161fs*4; 23:49039163-49039163

 large_intestine; coloncarcinomaDeletion - Frameshift

c.1484C>T; p.P495L; 23:49030402-49030402

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1484C>T; p.P495L; 23:49030402-49030402

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1445delG; p.G482fs*44; 23:49030441-49030441

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1445delG; p.G482fs*44; 23:49030441-49030441

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1445delG; p.G482fs*44; 23:49030441-49030441

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1445delG; p.G482fs*44; 23:49030441-49030441

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1190G>A; p.R397H; 23:49031491-49031491

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.660G>A; p.P220P; 23:49038317-49038317

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.125C>G; p.S42C; 23:49040560-49040560

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1616delG; p.G539fs*>37; 23:49030270-49030270

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.203A>T; p.K68I; 23:49040482-49040482

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.411C>A; p.A137A; 23:49039230-49039230

 ovaryother; neoplasmSubstitution - coding silent

c.1070G>A; p.R357H; 23:49033531-49033531

 pancreascarcinomaSubstitution - Missense

c.1120C>T; p.P374S; 23:49033481-49033481

 skinmalignant_melanomaSubstitution - Missense

c.576G>A; p.Q192Q; 23:49038401-49038401

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1645G>A; p.D549N; 23:49030241-49030241

 skinmalignant_melanomaSubstitution - Missense

c.434C>T; p.P145L; 23:49039207-49039207

 skinmalignant_melanomaSubstitution - Missense

c.332C>T; p.S111L; 23:49039309-49039309

 skinmalignant_melanomaSubstitution - Missense

c.332C>T; p.S111L; 23:49039309-49039309

 skinmalignant_melanomaSubstitution - Missense

c.317T>G; p.M106R; 23:49039324-49039324

 skinmalignant_melanomaSubstitution - Missense

c.392G>A; p.R131H; 23:49039249-49039249

 skinmalignant_melanomaSubstitution - Missense

c.1627C>T; p.P543S; 23:49030259-49030259

 skinmalignant_melanomaSubstitution - Missense

c.581C>T; p.A194V; 23:49038396-49038396

 skinmalignant_melanomaSubstitution - Missense

c.403G>A; p.E135K; 23:49039238-49039238

 skinmalignant_melanomaSubstitution - Missense

c.1075C>T; p.R359*; 23:49033526-49033526

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1446_1447insG; p.P483fs*>94; 23:49030439-49030440

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.1066C>T; p.R356C; 23:49033535-49033535

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1060+2T>C; p.?; 23:49033724-49033724

 stomachcarcinoma; adenocarcinomaUnknown

c.1703G>A; p.S568N; 23:49030183-49030183

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1591G>C; p.G531R; 23:49030295-49030295

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.359T>G; p.L120R; 23:49039282-49039282

 thyroidcarcinomaSubstitution - Missense

c.1235G>A; p.R412Q; 23:49031446-49031446

 thyroidcarcinomaSubstitution - Missense

c.1406_1408delAGG; p.E469delE; 23:49030478-49030480

 thyroidcarcinoma; anaplastic_carcinomaDeletion - In frame

c.944C>G; p.A315G; 23:49034193-49034193

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.442G>T; p.A148S; 23:49039199-49039199

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.442G>T; p.A148S; 23:49039199-49039199

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.442G>T; p.A148S; 23:49039199-49039199

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.442G>T; p.A148S; 23:49039199-49039199

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense