lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	8930
Symbol	MBD4
Synonymous	MED1
Full name	methyl-CpG binding domain protein 4
Gene description	3,N(4)-ethenocytosine glycosylase\|G/5-fluorouracil mismatch glycosylase with biphasic kinetics\|G/T mismatch glycosylase\|G/U mismatch glycosylase\|methyl-CpG-binding domain protein 4\|methyl-CpG-binding endonuclease 1\|methyl-CpG-binding protein MBD4\|mismatch
Cytoband	3q21.3
Gene type	protein-coding
Synonymous	MIM:603574; HGNC:HGNC:6919; Ensembl:ENSG00000129071; HPRD:04654; Vega:OTTHUMG00000159463

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1639A>T; p.I547F; 3:129432529-129432529	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.392A>G; p.N131S; 3:129437252-129437252	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.199G>A; p.E67K; 3:129437856-129437856	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1721A>G; p.H574R; 3:129431523-129431523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1694A>C; p.K565T; 3:129431550-129431550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.61A>G; p.T21A; 3:129439773-129439773	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1554G>T; p.K518N; 3:129433105-129433105	skin	malignant_melanoma	Substitution - Missense
c.1027G>A; p.E343K; 3:129436617-129436617	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1408T>G; p.S470A; 3:129433853-129433853	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.139G>A; p.G47R; 3:129437916-129437916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1319C>A; p.P440H; 3:129433942-129433942	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1483G>C; p.D495H; 3:129433176-129433176	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1311A>G; p.K437K; 3:129433950-129433950	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.240A>G; p.T80T; 3:129437815-129437815	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.1532_1534delTTC; p.L511delL; 3:129433125-129433127	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.116T>C; p.V39A; 3:129437939-129437939	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.159G>A; p.M53I; 3:129437896-129437896	skin	malignant_melanoma	Substitution - Missense
c.1666G>A; p.V556M; 3:129431578-129431578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.665A>G; p.D222G; 3:129436979-129436979	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.967T>G; p.F323V; 3:129436677-129436677	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.729T>A; p.I243I; 3:129436915-129436915	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1139C>G; p.S380C; 3:129436505-129436505	urinary_tract; bladder	carcinoma	Substitution - Missense
c.797C>A; p.S266Y; 3:129436847-129436847	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1413C>T; p.G471G; 3:129433246-129433246	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.817G>A; p.A273T; 3:129436827-129436827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.357A>G; p.R119R; 3:129437287-129437287	skin	malignant_melanoma	Substitution - coding silent
c.675C>T; p.F225F; 3:129436969-129436969	breast	carcinoma	Substitution - coding silent
c.1437G>T; p.W479C; 3:129433222-129433222	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.906G>C; p.V302V; 3:129436738-129436738	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.247C>T; p.R83C; 3:129437808-129437808	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1448A>T; p.E483V; 3:129433211-129433211	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1132C>T; p.R378C; 3:129436512-129436512	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1074C>T; p.I358I; 3:129436570-129436570	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1404G>A; p.R468R; 3:129433857-129433857	skin	malignant_melanoma	Substitution - coding silent
c.541C>T; p.R181*; 3:129437103-129437103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1245C>T; p.S415S; 3:129434093-129434093	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.404C>A; p.S135Y; 3:129437240-129437240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1242A>G; p.T414T; 3:129434096-129434096	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1242A>G; p.T414T; 3:129434096-129434096	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1087G>C; p.E363Q; 3:129436557-129436557	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1087G>C; p.E363Q; 3:129436557-129436557	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1501G>C; p.E501Q; 3:129433158-129433158	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.142G>T; p.E48*; 3:129437913-129437913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1377T>C; p.L459L; 3:129433884-129433884	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.393T>C; p.N131N; 3:129437251-129437251	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1419G>A; p.M473I; 3:129433240-129433240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.939delA; p.E314fs*4; 3:129436705-129436705	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.939delA; p.E314fs*4; 3:129436705-129436705	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.939delA; p.E314fs*4; 3:129436705-129436705	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.939delA; p.E314fs*4; 3:129436705-129436705	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.939delA; p.E314fs*4; 3:129436705-129436705	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.939delA; p.E314fs*4; 3:129436705-129436705	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.939delA; p.E314fs*4; 3:129436705-129436705	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.939delA; p.E314fs*4; 3:129436705-129436705	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.939delA; p.E314fs*4; 3:129436705-129436705	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.939delA; p.E314fs*4; 3:129436705-129436705	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1025C>G; p.S342*; 3:129436619-129436619	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1018A>G; p.K340E; 3:129436626-129436626	liver	carcinoma	Substitution - Missense
c.1264T>C; p.Y422H; 3:129434074-129434074	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.896C>A; p.T299N; 3:129436748-129436748	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1168_1169AG>TT; p.R390>?; 3:129436475-129436476	lung	carcinoma; adenocarcinoma	Complex
c.752G>T; p.R251M; 3:129436892-129436892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.752G>T; p.R251M; 3:129436892-129436892	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.350A>C; p.K117T; 3:129437294-129437294	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1475G>C; p.R492T; 3:129433184-129433184	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1217G>A; p.R406Q; 3:129434121-129434121	breast	carcinoma	Substitution - Missense
c.1534C>T; p.R512W; 3:129433125-129433125	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>A; p.G249R; 3:129436899-129436899	prostate	carcinoma	Substitution - Missense
c.58G>A; p.V20I; 3:129439776-129439776	breast	carcinoma	Substitution - Missense
c.744delA; p.G249fs*54; 3:129436900-129436900	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1325G>A; p.R442Q; 3:129433936-129433936	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1418T>G; p.M473R; 3:129433241-129433241	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.368C>A; p.S123*; 3:129437276-129437276	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1418T>G; p.M473R; 3:129433241-129433241	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1418T>G; p.M473R; 3:129433241-129433241	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1324C>T; p.R442W; 3:129433937-129433937	skin	malignant_melanoma	Substitution - Missense
c.571C>T; p.P191S; 3:129437073-129437073	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1516C>G; p.L506V; 3:129433143-129433143	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.546C>A; p.S182R; 3:129437098-129437098	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.992G>A; p.G331D; 3:129436652-129436652	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.992G>A; p.G331D; 3:129436652-129436652	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.326A>G; p.Y109C; 3:129437729-129437729	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1519G>A; p.G507S; 3:129433140-129433140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.501A>G; p.L167L; 3:129437143-129437143	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1709T>C; p.L570P; 3:129431535-129431535	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1480G>A; p.A494T; 3:129433179-129433179	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.976G>T; p.E326*; 3:129436668-129436668	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1318C>A; p.P440T; 3:129433943-129433943	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1056T>C; p.F352F; 3:129436588-129436588	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1019A>G; p.K340R; 3:129436625-129436625	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1048G>A; p.D350N; 3:129436596-129436596	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1387A>G; p.T463A; 3:129433874-129433874	NS	malignant_melanoma	Substitution - Missense
c.1211T>C; p.I404T; 3:129434127-129434127	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.754A>T; p.K252*; 3:129436890-129436890	skin	malignant_melanoma	Substitution - Nonsense
c.104+1G>T; p.?; 3:129439729-129439729	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.217C>T; p.Q73*; 3:129437838-129437838	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.150G>T; p.E50D; 3:129437905-129437905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1737A>G; p.L579L; 3:129431507-129431507	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1298A>G; p.K433R; 3:129433963-129433963	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.187C>T; p.P63S; 3:129437868-129437868	stomach	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation