| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4204 |
Name | MECP2 |
Synonymous | AUTSX3|MRX16|MRX79|MRXS13|MRXSL|PPMX|RS|RTS|RTT;methyl CpG binding protein 2 (Rett syndrome);MECP2;methyl CpG binding protein 2 (Rett syndrome) |
Definition | meCp-2 protein|methyl-CpG-binding protein 2 |
Position | Xq28 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MECP2 | ||
PCGP somatic mutation [Top] | ||
There is no record for MECP2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.254G>A; p.R85H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.593G>C; p.R198T; |
oesophagus | carcinoma; adenocarcinoma |
c.1259G>C; p.R420T; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.121G>A; p.G41S; |
lung | carcinoma; non_small_cell_carcinoma |
c.461A>G; p.D154G; |
ovary | carcinoma |
c.82T>G; p.F28V; |
bone | chondrosarcoma |
c.892G>T; p.E298*; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.526C>T; p.P176S; |
large_intestine; colon | adenoma |
c.27G>T; p.R9S; |
central_nervous_system; posterior_fossa | glioma; ependymoma |
c.1309C>G; p.Q437E; |
lung | carcinoma; squamous_cell_carcinoma |
c.359A>G; p.Y120C; |
lung | carcinoma; squamous_cell_carcinoma |
c.980C>A; p.T327N; |
lung | carcinoma; squamous_cell_carcinoma |
c.909C>G; p.I303M; |
lung | carcinoma; adenocarcinoma |
c.1025C>T; p.P342L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.818G>T; p.G273V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1358G>T; p.R453L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1060C>T; p.R354C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.911A>G; p.K304R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1002A>G; p.K334K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.894G>C; p.E298D; |
breast | carcinoma |
c.1327G>C; p.A443P; |
breast | carcinoma |
c.1014C>A; p.T338T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.50A>G; p.D17G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.427G>A; p.E143K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1431C>T; p.S477S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.419C>T; p.A140V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.393C>G; p.A131A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.870G>A; p.E290E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.250C>T; p.R84W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.253C>T; p.R85C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.438C>T; p.G146G; |
breast | carcinoma |
c.253C>T; p.R85C; |
breast | carcinoma |
c.218C>T; p.A73V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.834C>T; p.A278A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.755G>A; p.G252D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1346delA; p.K449fs*33; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.666C>T; p.V222V; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1079C>T; p.S360L; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1316C>T; p.A439V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1047C>A; p.S349R; |
prostate | carcinoma |
c.148G>A; p.A50T; |
prostate | carcinoma |