Entrez Gene

Basic Information
Gene ID	4204
Name	MECP2
Synonymous	methyl CpG binding protein 2;MECP2;methyl CpG binding protein 2
Definition	meCp-2 protein\|methyl-CpG-binding protein 2
Position	Xq28
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.834C>T; p.A278A; 23:154030994-154030994	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1018A>C; p.K340Q; 23:154030810-154030810	oesophagus	carcinoma	Substitution - Missense
c.475G>A; p.V159I; 23:154031353-154031353	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.140A>G; p.Q47R; 23:154032444-154032444	pancreas	carcinoma	Substitution - Missense
c.473C>T; p.T158M; 23:154031355-154031355	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.35A>G; p.K12R; 23:154032549-154032549	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.55C>G; p.Q19E; 23:154032529-154032529	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.911A>G; p.K304R; 23:154030917-154030917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.148G>A; p.A50T; 23:154032436-154032436	prostate	carcinoma	Substitution - Missense
c.316C>T; p.R106W; 23:154032268-154032268	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.818G>T; p.G273V; 23:154031010-154031010	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.261C>T; p.I87I; 23:154032323-154032323	central_nervous_system; brain	glioma	Substitution - coding silent
c.1137C>T; p.P379P; 23:154030691-154030691	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.419C>T; p.A140V; 23:154031409-154031409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.419C>T; p.A140V; 23:154031409-154031409	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1137C>T; p.P379P; 23:154030691-154030691	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1060C>T; p.R354C; 23:154030768-154030768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1330G>A; p.A444T; 23:154030498-154030498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1330G>A; p.A444T; 23:154030498-154030498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.688C>T; p.P230S; 23:154031140-154031140	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1279G>A; p.D427N; 23:154030549-154030549	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1222T>C; p.L408L; 23:154030606-154030606	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1410C>A; p.N470K; 23:154030418-154030418	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1388C>A; p.S463*; 23:154030440-154030440	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.965C>T; p.P322L; 23:154030863-154030863	skin	malignant_melanoma	Substitution - Missense
c.622C>A; p.Q208K; 23:154031206-154031206	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1243G>C; p.E415Q; 23:154030585-154030585	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1243G>C; p.E415Q; 23:154030585-154030585	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.135C>T; p.P45P; 23:154032449-154032449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1346delA; p.K449fs*33; 23:154030482-154030482	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.393C>G; p.A131A; 23:154031435-154031435	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.379C>T; p.P127S; 23:154031449-154031449	thyroid	carcinoma	Substitution - Missense
c.1351A>G; p.K451E; 23:154030477-154030477	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1002A>G; p.K334K; 23:154030826-154030826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.342C>T; p.G114G; 23:154032242-154032242	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1135C>T; p.P379S; 23:154030693-154030693	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1135C>T; p.P379S; 23:154030693-154030693	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1135C>T; p.P379S; 23:154030693-154030693	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.447C>T; p.S149S; 23:154031381-154031381	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1327G>C; p.A443P; 23:154030501-154030501	breast	carcinoma	Substitution - Missense
c.1086delC; p.K363fs*46; 23:154030742-154030742	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.920A>G; p.K307R; 23:154030908-154030908	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.920A>G; p.K307R; 23:154030908-154030908	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.359A>G; p.Y120C; 23:154032225-154032225	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.754G>A; p.G252S; 23:154031074-154031074	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1309C>G; p.Q437E; 23:154030519-154030519	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1431C>T; p.S477S; 23:154030397-154030397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.218C>T; p.A73V; 23:154032366-154032366	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1316C>T; p.A439V; 23:154030512-154030512	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1316C>T; p.A439V; 23:154030512-154030512	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.892G>T; p.E298*; 23:154030936-154030936	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.980C>A; p.T327N; 23:154030848-154030848	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.175G>A; p.A59T; 23:154032409-154032409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.438C>T; p.G146G; 23:154031390-154031390	pancreas	carcinoma	Substitution - coding silent
c.438C>T; p.G146G; 23:154031390-154031390	breast	carcinoma	Substitution - coding silent
c.1324A>G; p.T442A; 23:154030504-154030504	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.958G>C; p.V320L; 23:154030870-154030870	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1324A>G; p.T442A; 23:154030504-154030504	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.179G>A; p.G60D; 23:154032405-154032405	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1047C>A; p.S349R; 23:154030781-154030781	prostate	carcinoma	Substitution - Missense
c.1259G>C; p.R420T; 23:154030569-154030569	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.461A>G; p.D154G; 23:154031367-154031367	ovary	carcinoma	Substitution - Missense
c.344G>A; p.R115H; 23:154032240-154032240	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.27G>T; p.R9S; 23:154032557-154032557	central_nervous_system; posterior_fossa	glioma; ependymoma	Substitution - Missense
c.50A>G; p.D17G; 23:154032534-154032534	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.649C>T; p.P217S; 23:154031179-154031179	skin	malignant_melanoma	Substitution - Missense
c.121G>A; p.G41S; 23:154032463-154032463	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.635T>G; p.V212G; 23:154031193-154031193	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.593G>C; p.R198T; 23:154031235-154031235	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1373G>A; p.R458H; 23:154030455-154030455	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.666C>T; p.V222V; 23:154031162-154031162	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.909C>G; p.I303M; 23:154030919-154030919	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.894G>C; p.E298D; 23:154030934-154030934	breast	carcinoma	Substitution - Missense
c.650C>T; p.P217L; 23:154031178-154031178	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.253C>T; p.R85C; 23:154032331-154032331	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1025C>T; p.P342L; 23:154030803-154030803	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.253C>T; p.R85C; 23:154032331-154032331	breast	carcinoma	Substitution - Missense
c.870G>A; p.E290E; 23:154030958-154030958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.165G>A; p.E55E; 23:154032419-154032419	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1179C>T; p.P393P; 23:154030649-154030649	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1179C>T; p.P393P; 23:154030649-154030649	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1179C>T; p.P393P; 23:154030649-154030649	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.250C>T; p.R84W; 23:154032334-154032334	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.815C>T; p.P272L; 23:154031013-154031013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.398G>A; p.R133H; 23:154031430-154031430	breast	carcinoma	Substitution - Missense
c.1265G>A; p.G422D; 23:154030563-154030563	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1456A>C; p.S486R; 23:154030372-154030372	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1358G>T; p.R453L; 23:154030470-154030470	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.674C>T; p.P225L; 23:154031154-154031154	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.82T>G; p.F28V; 23:154032502-154032502	bone; femur	chondrosarcoma	Substitution - Missense
c.427G>A; p.E143K; 23:154031401-154031401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.755G>A; p.G252D; 23:154031073-154031073	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.537C>A; p.P179P; 23:154031291-154031291	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.255C>T; p.R85R; 23:154032329-154032329	skin	malignant_melanoma	Substitution - coding silent
c.215C>T; p.P72L; 23:154032369-154032369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1079C>T; p.S360L; 23:154030749-154030749	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1439C>T; p.P480L; 23:154030389-154030389	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.685T>G; p.S229A; 23:154031143-154031143	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1014C>A; p.T338T; 23:154030814-154030814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1089G>A; p.K363K; 23:154030739-154030739	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.526C>T; p.P176S; 23:154031302-154031302	large_intestine; colon	adenoma	Substitution - Missense
c.526C>T; p.P176S; 23:154031302-154031302	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1084C>T; p.P362S; 23:154030744-154030744	skin	malignant_melanoma	Substitution - Missense
c.808C>T; p.R270*; 23:154031020-154031020	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.240C>T; p.S80S; 23:154032344-154032344	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1342delG; p.E448fs*34; 23:154030486-154030486	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.254G>A; p.R85H; 23:154032330-154032330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]