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

Basic Information

Gene ID

4152

Name

MBD1

Synonymous

methyl-CpG binding domain protein 1;MBD1;methyl-CpG binding domain protein 1

Definition

CXXC-type zinc finger protein 3|methyl-CpG binding domain protein 1 isoform PCM1|methyl-CpG-binding domain protein 1|protein containing methyl-CpG-binding domain 1|the regulator of fibroblast growth factor 2 (FGF-2) transcription

Position

18q21

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.327G>T; p.K109N; 18:50276897-50276897

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1087G>A; p.G363R; 18:50274245-50274245

 breastcarcinomaSubstitution - Missense

c.640C>T; p.R214C; 18:50275858-50275858

 breastcarcinomaSubstitution - Missense

c.640C>T; p.R214C; 18:50275858-50275858

 breastcarcinomaSubstitution - Missense

c.1216C>T; p.R406*; 18:50273794-50273794

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Nonsense

c.1086C>T; p.F362F; 18:50274246-50274246

 breastcarcinomaSubstitution - coding silent

c.455C>T; p.T152M; 18:50276682-50276682

 breastcarcinomaSubstitution - Missense

c.302G>C; p.G101A; 18:50276922-50276922

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1071C>T; p.C357C; 18:50274261-50274261

 breastcarcinomaSubstitution - coding silent

c.1644G>T; p.K548N; 18:50272896-50272896

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1105C>T; p.R369C; 18:50274227-50274227

 central_nervous_system; braingliomaSubstitution - Missense

c.225G>A; p.K75K; 18:50277090-50277090

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.65G>A; p.R22H; 18:50279928-50279928

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.648C>T; p.L216L; 18:50275850-50275850

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.181C>A; p.L61I; 18:50277134-50277134

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1558G>A; p.V520I; 18:50273360-50273360

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.54C>T; p.R18R; 18:50279939-50279939

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1105C>T; p.R369C; 18:50274227-50274227

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.506G>A; p.R169K; 18:50276388-50276388

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1123C>T; p.R375C; 18:50274209-50274209

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.64C>T; p.R22C; 18:50279929-50279929

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.64C>T; p.R22C; 18:50279929-50279929

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1758T>C; p.D586D; 18:50272697-50272697

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.562T>A; p.C188S; 18:50275936-50275936

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1556C>T; p.P519L; 18:50273362-50273362

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.49C>T; p.R17C; 18:50279944-50279944

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.686G>T; p.R229L; 18:50275706-50275706

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.53G>A; p.R18H; 18:50279940-50279940

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.596C>T; p.P199L; 18:50275902-50275902

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.265C>A; p.P89T; 18:50276959-50276959

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.141T>G; p.V47V; 18:50277174-50277174

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1683A>T; p.P561P; 18:50272857-50272857

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.173A>G; p.D58G; 18:50277142-50277142

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.758G>A; p.R253H; 18:50275634-50275634

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.909+3G>T; p.?; 18:50275126-50275126

 kidneyother; neoplasmUnknown

c.999G>A; p.R333R; 18:50274333-50274333

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.64C>T; p.R22C; 18:50279929-50279929

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1003_1010delAACCGCAA; p.N335fs*57; 18:50274322-50274329

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1414C>T; p.P472S; 18:50273596-50273596

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1506G>A; p.K502K; 18:50273412-50273412

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.49C>T; p.R17C; 18:50279944-50279944

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.962T>C; p.V321A; 18:50274993-50274993

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1040G>A; p.R347Q; 18:50274292-50274292

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1117C>T; p.R373C; 18:50274215-50274215

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.742C>T; p.R248C; 18:50275650-50275650

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.928C>T; p.P310S; 18:50275027-50275027

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.335C>T; p.P112L; 18:50276889-50276889

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1212T>C; p.R404R; 18:50273798-50273798

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1037G>A; p.R346Q; 18:50274295-50274295

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1216C>T; p.R406*; 18:50273794-50273794

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1303A>G; p.T435A; 18:50273707-50273707

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1352delC; p.P451fs*39; 18:50273658-50273658

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1020C>A; p.A340A; 18:50274312-50274312

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1075A>G; p.K359E; 18:50274257-50274257

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1075A>G; p.K359E; 18:50274257-50274257

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1075A>G; p.K359E; 18:50274257-50274257

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1075A>G; p.K359E; 18:50274257-50274257

 large_intestine; coloncarcinomaSubstitution - Missense

c.1075A>G; p.K359E; 18:50274257-50274257

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1367T>G; p.L456R; 18:50273643-50273643

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.187G>A; p.D63N; 18:50277128-50277128

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1481C>G; p.A494G; 18:50273437-50273437

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1123C>T; p.R375C; 18:50274209-50274209

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.496C>T; p.R166W; 18:50276398-50276398

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.423_424delAG; p.D143fs*29; 18:50276713-50276714

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1072G>A; p.D358N; 18:50274260-50274260

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.392G>T; p.G131V; 18:50276832-50276832

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.685C>T; p.R229W; 18:50275707-50275707

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1106G>A; p.R369H; 18:50274226-50274226

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.147G>T; p.L49L; 18:50277168-50277168

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.778C>T; p.R260*; 18:50275614-50275614

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.529G>A; p.G177R; 18:50275969-50275969

 livercarcinomaSubstitution - Missense

c.529G>A; p.G177R; 18:50275969-50275969

 livercarcinomaSubstitution - Missense

c.1147-2A>G; p.?; 18:50273865-50273865

 lung; right_lower_lobecarcinoma; adenocarcinomaUnknown

c.908C>T; p.P303L; 18:50275130-50275130

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1361C>G; p.T454S; 18:50273649-50273649

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1584+1G>A; p.?; 18:50273333-50273333

 lungcarcinoma; adenocarcinomaUnknown

c.1367T>G; p.L456R; 18:50273643-50273643

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1522G>T; p.E508*; 18:50273396-50273396

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.961G>A; p.V321I; 18:50274994-50274994

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.572G>T; p.C191F; 18:50275926-50275926

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.833T>C; p.M278T; 18:50275205-50275205

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1090G>T; p.G364C; 18:50274242-50274242

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1151G>T; p.R384L; 18:50273859-50273859

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1700G>T; p.G567V; 18:50272840-50272840

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1614G>A; p.K538K; 18:50272926-50272926

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.336G>A; p.P112P; 18:50276888-50276888

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1237C>T; p.R413*; 18:50273773-50273773

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1327G>C; p.A443P; 18:50273683-50273683

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.392+3G>T; p.?; 18:50276829-50276829

 ovaryother; neoplasmUnknown

c.63T>A; p.F21L; 18:50279930-50279930

 ovaryother; neoplasmSubstitution - Missense

c.1211G>A; p.R404H; 18:50273799-50273799

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1334G>C; p.G445A; 18:50273676-50273676

 ovaryother; neoplasmSubstitution - Missense

c.309G>A; p.Q103Q; 18:50276915-50276915

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.64C>T; p.R22C; 18:50279929-50279929

 ovaryother; neoplasmSubstitution - Missense

c.1237C>T; p.R413*; 18:50273773-50273773

 pancreascarcinomaSubstitution - Nonsense

c.1237C>T; p.R413*; 18:50273773-50273773

 pancreascarcinomaSubstitution - Nonsense

c.1443G>A; p.L481L; 18:50273567-50273567

 pancreascarcinomaSubstitution - coding silent

c.392+1G>A; p.?; 18:50276831-50276831

 prostatecarcinomaUnknown

c.233C>T; p.P78L; 18:50276991-50276991

 skinmalignant_melanomaSubstitution - Missense

c.880C>T; p.P294S; 18:50275158-50275158

 skinmalignant_melanomaSubstitution - Missense

c.219C>T; p.A73A; 18:50277096-50277096

 skinmalignant_melanomaSubstitution - coding silent

c.1437C>T; p.A479A; 18:50273573-50273573

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1429A>T; p.T477S; 18:50273581-50273581

 skinmalignant_melanomaSubstitution - Missense

c.1086C>T; p.F362F; 18:50274246-50274246

 skinmalignant_melanomaSubstitution - coding silent

c.181C>T; p.L61F; 18:50277134-50277134

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.335delC; p.P112fs*73; 18:50276889-50276889

 skinmalignant_melanomaDeletion - Frameshift

c.1036C>T; p.R346W; 18:50274296-50274296

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1303A>G; p.T435A; 18:50273707-50273707

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.743G>A; p.R248H; 18:50275649-50275649

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.475+2T>C; p.?; 18:50276660-50276660

 stomachcarcinoma; adenocarcinomaUnknown

c.1268C>T; p.P423L; 18:50273742-50273742

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1753C>T; p.R585*; 18:50272702-50272702

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.1799C>A; p.P600H; 18:50271520-50271520

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1106G>T; p.R369L; 18:50274226-50274226

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.392+2T>C; p.?; 18:50276830-50276830

 stomachcarcinoma; adenocarcinomaUnknown

c.685C>T; p.R229W; 18:50275707-50275707

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.382C>T; p.P128S; 18:50276842-50276842

 thyroidcarcinomaSubstitution - Missense

c.1369G>T; p.V457L; 18:50273641-50273641

 thyroidother; neoplasmSubstitution - Missense

c.1409C>T; p.P470L; 18:50273601-50273601

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.863C>T; p.P288L; 18:50275175-50275175

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1129T>C; p.C377R; 18:50274203-50274203

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1124G>A; p.R375H; 18:50274208-50274208

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1124G>A; p.R375H; 18:50274208-50274208

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1633G>C; p.E545Q; 18:50272907-50272907

 urinary_tract; bladdercarcinomaSubstitution - Missense