| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4208 |
Name | MEF2C |
Synonymous | C5DELq14.3; DEL5q14.3;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 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MEF2C | ||
PCGP somatic mutation [Top] | ||
There is no record for MEF2C | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.254T>A; p.V85E; |
liver | carcinoma; hepatocellular_carcinoma |
c.87G>A; p.M29I; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.328A>T; p.S110C; |
lung | carcinoma; squamous_cell_carcinoma |
c.881C>A; p.P294Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.565C>T; p.R189*; 5:88083454-88083454 |
skin; ear | malignant_melanoma |
c.1303G>A; p.D435N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.892G>A; p.V298I; |
pancreas | carcinoma |
c.785G>A; p.G262D; |
liver | carcinoma |
c.205T>C; p.Y69H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.752G>A; p.R251H; |
oesophagus | carcinoma; adenocarcinoma |
c.461G>C; p.S154T; |
oesophagus | carcinoma; adenocarcinoma |
c.270G>C; p.K90N; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.381G>A; p.M127I; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.220G>A; p.E74K; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.121T>A; p.C41S; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.565C>T; p.R189*; 5:88083454-88083454 |
breast | carcinoma; ductal_carcinoma |
c.892G>A; p.V298I; |
pancreas | carcinoma; ductal_carcinoma |
c.1177G>T; p.E393*; |
lung | carcinoma; adenocarcinoma |
c.539A>T; p.N180I; |
lung | carcinoma; adenocarcinoma |
c.530T>C; p.L177P; |
lung | carcinoma; adenocarcinoma |
c.958G>T; p.G320C; |
lung | carcinoma; adenocarcinoma |
c.643G>A; p.G215R; 5:88063469-88063469 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.180C>G; p.T60T; |
autonomic_ganglia | neuroblastoma |
c.1324G>A; p.E442K; 5:88054275-88054275 |
lung | carcinoma; non_small_cell_carcinoma |
c.41A>C; p.E14A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.14A>C; p.K5T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.525T>C; p.P175P; |
prostate | carcinoma |
c.1175C>A; p.S392*; |
prostate | carcinoma |
c.915A>G; p.G305G; |
autonomic_ganglia | neuroblastoma |
c.1294G>T; p.D432Y; |
ovary | carcinoma; serous_carcinoma |
c.1366G>A; p.E456K; |
lung | carcinoma; squamous_cell_carcinoma |
c.19C>G; p.Q7E; |
lung | carcinoma; squamous_cell_carcinoma |
c.726C>A; p.P242P; 5:88063386-88063386 |
ovary | carcinoma; serous_carcinoma |
c.441C>T; p.I147I; |
lung | carcinoma; squamous_cell_carcinoma |
c.208A>C; p.T70P; |
lung | carcinoma; adenocarcinoma |
c.373G>T; p.D125Y; |
lung | carcinoma; adenocarcinoma |
c.1245G>T; p.E415D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.109G>T; p.V37L; |
lung | carcinoma; squamous_cell_carcinoma |
c.767G>T; p.R256L; |
lung | carcinoma; squamous_cell_carcinoma |
c.54G>T; p.Q18H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.505C>T; p.L169L; |
breast | carcinoma |
c.1318C>T; p.R440W; |
large_intestine; colon | NS |
c.309G>A; p.A103A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.209C>T; p.T70M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.659G>A; p.R220Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.419A>G; p.N140S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1198G>T; p.D400Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.566G>A; p.R189Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1324G>A; p.E442K; 5:88054275-88054275 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.329G>T; p.S110I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.580G>T; p.G194C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.253G>A; p.V85M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.26C>T; p.T9M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1324G>T; p.E442*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1111A>G; p.S371G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1289C>T; p.S430L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1138C>A; p.L380I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.766C>T; p.R256*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1396C>T; p.R466*; |
breast | carcinoma |
c.1217C>T; p.S406L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.569C>T; p.P190L; |
urinary_tract; bladder | carcinoma |
c.77T>G; p.F26C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1185T>C; p.V395V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.565C>T; p.R189*; 5:88083454-88083454 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1151C>G; p.S384C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.105G>A; p.L35L; |
urinary_tract; bladder | carcinoma |
c.221A>T; p.E74V; |
breast | carcinoma |
c.680T>C; p.V227A; |
prostate | carcinoma; adenocarcinoma |
c.1027C>G; p.H343D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1324G>A; p.E442K; 5:88054275-88054275 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.14_15insA; p.I6fs*9; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1235C>T; p.T412M; |
prostate | carcinoma |