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

Basic Information

Gene ID

4208

Name

MEF2C

Synonymous

myocyte enhancer factor 2C;MEF2C;myocyte enhancer factor 2C

Definition

MADS box transcription enhancer factor 2, polypeptide C|myocyte-specific enhancer factor 2C

Position

5q14.3

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.180C>G; p.T60T; 5:88804676-88804676

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.915A>G; p.G305G; 5:88729267-88729267

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.1289C>T; p.S430L; 5:88722737-88722737

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.814G>A; p.E272K; 5:88730231-88730231

 breastcarcinomaSubstitution - Missense

c.1396C>T; p.R466*; 5:88722630-88722630

 breastcarcinomaSubstitution - Nonsense

c.1028A>C; p.H343P; 5:88728565-88728565

 breastcarcinomaSubstitution - Missense

c.505C>T; p.L169L; 5:88751941-88751941

 breastcarcinomaSubstitution - coding silent

c.87G>A; p.M29I; 5:88804769-88804769

 breastcarcinoma; ER-PR-positive_carcinomaSubstitution - Missense

c.565C>T; p.R189*; 5:88751881-88751881

 breastcarcinoma; ductal_carcinomaSubstitution - Nonsense

c.221A>T; p.E74V; 5:88804635-88804635

 breastcarcinomaSubstitution - Missense

c.1324G>T; p.E442*; 5:88722702-88722702

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.329G>T; p.S110I; 5:88761258-88761258

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.580G>T; p.G194C; 5:88751866-88751866

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.253G>A; p.V85M; 5:88804603-88804603

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.766C>T; p.R256*; 5:88731773-88731773

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.77T>G; p.F26C; 5:88804779-88804779

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1289C>T; p.S430L; 5:88722737-88722737

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.26C>T; p.T9M; 5:88823763-88823763

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1217C>T; p.S406L; 5:88722809-88722809

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1185T>C; p.V395V; 5:88722841-88722841

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1138C>A; p.L380I; 5:88722888-88722888

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.14A>C; p.K5T; 5:88823775-88823775

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.423C>T; p.F141F; 5:88752023-88752023

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.752G>A; p.R251H; 5:88731787-88731787

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.41A>C; p.E14A; 5:88823748-88823748

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.205T>C; p.Y69H; 5:88804651-88804651

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1252A>G; p.R418G; 5:88722774-88722774

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.54G>T; p.Q18H; 5:88823735-88823735

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1111A>G; p.S371G; 5:88722915-88722915

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.767G>A; p.R256Q; 5:88731772-88731772

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.44G>A; p.R15H; 5:88823745-88823745

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.356A>G; p.K119R; 5:88761231-88761231

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.225G>A; p.P75P; 5:88804631-88804631

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.279T>C; p.L93L; 5:88761308-88761308

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1324G>A; p.E442K; 5:88722702-88722702

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1324G>A; p.E442K; 5:88722702-88722702

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1318C>T; p.R440W; 5:88722708-88722708

 large_intestine; colonNSSubstitution - Missense

c.210G>A; p.T70T; 5:88804646-88804646

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.658C>T; p.R220*; 5:88731881-88731881

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.658C>T; p.R220*; 5:88731881-88731881

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1302C>T; p.S434S; 5:88722724-88722724

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.14_15insA; p.I6fs*9; 5:88823774-88823775

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.309G>A; p.A103A; 5:88761278-88761278

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.209C>T; p.T70M; 5:88804647-88804647

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.643G>A; p.G215R; 5:88731896-88731896

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.566G>A; p.R189Q; 5:88751880-88751880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1027C>G; p.H343D; 5:88728566-88728566

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.172G>A; p.A58T; 5:88804684-88804684

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1248G>A; p.A416A; 5:88722778-88722778

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.138C>T; p.I46I; 5:88804718-88804718

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.659G>A; p.R220Q; 5:88731880-88731880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1151C>G; p.S384C; 5:88722875-88722875

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1303G>A; p.D435N; 5:88722723-88722723

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.419A>G; p.N140S; 5:88752027-88752027

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.565C>T; p.R189*; 5:88751881-88751881

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1198G>T; p.D400Y; 5:88722828-88722828

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.676C>T; p.L226L; 5:88731863-88731863

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.785G>A; p.G262D; 5:88731754-88731754

 livercarcinomaSubstitution - Missense

c.785G>A; p.G262D; 5:88731754-88731754

 livercarcinomaSubstitution - Missense

c.1415C>T; p.A472V; 5:88722611-88722611

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.204G>A; p.K68K; 5:88804652-88804652

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.254T>A; p.V85E; 5:88804602-88804602

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.29G>A; p.R10K; 5:88823760-88823760

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.109G>T; p.V37L; 5:88804747-88804747

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.798G>T; p.T266T; 5:88731741-88731741

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.958G>T; p.G320C; 5:88729224-88729224

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.19C>G; p.Q7E; 5:88823770-88823770

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.208A>C; p.T70P; 5:88804648-88804648

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1324G>A; p.E442K; 5:88722702-88722702

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1062C>A; p.H354Q; 5:88728531-88728531

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.881C>A; p.P294Q; 5:88729301-88729301

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1245G>T; p.E415D; 5:88722781-88722781

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1366G>A; p.E456K; 5:88722660-88722660

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.373G>T; p.D125Y; 5:88761214-88761214

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.328A>T; p.S110C; 5:88761259-88761259

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.441C>T; p.I147I; 5:88752005-88752005

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.767G>T; p.R256L; 5:88731772-88731772

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.196C>A; p.L66I; 5:88804660-88804660

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.539A>T; p.N180I; 5:88751907-88751907

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1177G>T; p.E393*; 5:88722849-88722849

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.530T>C; p.L177P; 5:88751916-88751916

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.752G>A; p.R251H; 5:88731787-88731787

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.639G>T; p.G213G; 5:88731900-88731900

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.520C>T; p.H174Y; 5:88751926-88751926

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1243G>A; p.E415K; 5:88722783-88722783

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.461G>C; p.S154T; 5:88751985-88751985

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.726C>A; p.P242P; 5:88731813-88731813

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1294G>T; p.D432Y; 5:88722732-88722732

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1110T>C; p.T370T; 5:88722916-88722916

 ovaryother; neoplasmSubstitution - coding silent

c.1095G>C; p.Q365H; 5:88728498-88728498

 pancreascarcinomaSubstitution - Missense

c.835-1G>C; p.?; 5:88729348-88729348

 pancreascarcinomaUnknown

c.892G>A; p.V298I; 5:88729290-88729290

 pancreascarcinomaSubstitution - Missense

c.391C>T; p.Q131*; 5:88761196-88761196

 pancreascarcinomaSubstitution - Nonsense

c.892G>A; p.V298I; 5:88729290-88729290

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.309G>A; p.A103A; 5:88761278-88761278

 pleurapulmonary_blastomaSubstitution - coding silent

c.1175C>A; p.S392*; 5:88722851-88722851

 prostatecarcinomaSubstitution - Nonsense

c.752G>A; p.R251H; 5:88731787-88731787

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.525T>C; p.P175P; 5:88751921-88751921

 prostatecarcinomaSubstitution - coding silent

c.680T>C; p.V227A; 5:88731859-88731859

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1235C>T; p.T412M; 5:88722791-88722791

 prostatecarcinomaSubstitution - Missense

c.750C>T; p.N250N; 5:88731789-88731789

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1324G>A; p.E442K; 5:88722702-88722702

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.548C>T; p.S183F; 5:88751898-88751898

 skinmalignant_melanomaSubstitution - Missense

c.709C>T; p.Q237*; 5:88731830-88731830

 skinmalignant_melanomaSubstitution - Nonsense

c.817G>A; p.D273N; 5:88730228-88730228

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.364G>A; p.E122K; 5:88761223-88761223

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.364G>A; p.E122K; 5:88761223-88761223

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1372G>A; p.E458K; 5:88722654-88722654

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1143C>T; p.S381S; 5:88722883-88722883

 skinmalignant_melanomaSubstitution - coding silent

c.328A>C; p.S110R; 5:88761259-88761259

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.858G>A; p.Q286Q; 5:88729324-88729324

 skinmalignant_melanomaSubstitution - coding silent

c.565C>T; p.R189*; 5:88751881-88751881

 skin; earmalignant_melanomaSubstitution - Nonsense

c.1200C>T; p.D400D; 5:88722826-88722826

 skinmalignant_melanomaSubstitution - coding silent

c.37G>A; p.D13N; 5:88823752-88823752

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1370G>A; p.R457K; 5:88722656-88722656

 skinmalignant_melanomaSubstitution - Missense

c.442C>A; p.P148T; 5:88752004-88752004

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.964G>A; p.E322K; 5:88729218-88729218

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1247C>T; p.A416V; 5:88722779-88722779

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.664T>C; p.S222P; 5:88731875-88731875

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1296C>T; p.D432D; 5:88722730-88722730

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.252C>T; p.I84I; 5:88804604-88804604

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.450C>G; p.S150S; 5:88751996-88751996

 thyroidcarcinomaSubstitution - coding silent

c.270G>C; p.K90N; 5:88761317-88761317

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.220G>A; p.E74K; 5:88804636-88804636

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.285C>T; p.G95G; 5:88761302-88761302

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1334C>T; p.S445F; 5:88722692-88722692

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.121T>A; p.C41S; 5:88804735-88804735

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.381G>A; p.M127I; 5:88761206-88761206

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.141C>G; p.I47M; 5:88804715-88804715

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1214C>G; p.P405R; 5:88722812-88722812

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.569C>T; p.P190L; 5:88751877-88751877

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.105G>A; p.L35L; 5:88804751-88804751

 urinary_tract; bladdercarcinomaSubstitution - coding silent