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

Basic Information

Gene ID

57154

Name

SMURF1

Synonymous

SMAD specific E3 ubiquitin protein ligase 1;SMURF1;SMAD specific E3 ubiquitin protein ligase 1

Definition

E3 ubiquitin ligase SMURF1|E3 ubiquitin-protein ligase SMURF1|SMAD-specific E3 ubiquitin-protein ligase 1|Smad ubiquitination regulatory factor 1|Smad-specific E3 ubiquitin ligase 1|hSMURF1

Position

7q22.1

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1380C>G; p.Y460*; 7:99042187-99042187

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2160G>A; p.P720P; 7:99033051-99033051

 breastcarcinomaSubstitution - coding silent

c.1204G>A; p.E402K; 7:99047710-99047710

 breastcarcinomaSubstitution - Missense

c.1512C>A; p.H504Q; 7:99040494-99040494

 breastcarcinomaSubstitution - Missense

c.853T>C; p.F285L; 7:99050946-99050946

 breastcarcinomaSubstitution - Missense

c.2165C>G; p.A722G; 7:99033046-99033046

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1765C>T; p.R589W; 7:99038389-99038389

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2166C>G; p.A722A; 7:99033045-99033045

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.189C>T; p.N63N; 7:99060613-99060613

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.328G>T; p.D110Y; 7:99057427-99057427

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1481G>A; p.R494Q; 7:99040525-99040525

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1994C>T; p.A665V; 7:99035610-99035610

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.733A>G; p.T245A; 7:99051430-99051430

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.653G>A; p.R218Q; 7:99052273-99052273

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.177C>T; p.D59D; 7:99060625-99060625

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1975G>A; p.V659M; 7:99035629-99035629

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.652C>T; p.R218*; 7:99052274-99052274

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2007C>T; p.F669F; 7:99035597-99035597

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1129G>T; p.D377Y; 7:99047785-99047785

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1170G>A; p.S390S; 7:99047744-99047744

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.850G>A; p.E284K; 7:99050949-99050949

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.849C>T; p.Y283Y; 7:99050950-99050950

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1681G>A; p.A561T; 7:99038473-99038473

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1187C>T; p.A396V; 7:99047727-99047727

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.312C>T; p.A104A; 7:99057443-99057443

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1123G>A; p.E375K; 7:99047791-99047791

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.130G>A; p.G44R; 7:99060672-99060672

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.970T>G; p.F324V; 7:99049624-99049624

 kidneyother; neoplasmSubstitution - Missense

c.370T>C; p.S124P; 7:99057238-99057238

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1449C>G; p.P483P; 7:99042118-99042118

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.548C>T; p.T183I; 7:99052378-99052378

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.498C>G; p.S166S; 7:99052428-99052428

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.389G>A; p.R130H; 7:99057219-99057219

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.638G>A; p.R213Q; 7:99052288-99052288

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2188G>A; p.D730N; 7:99030670-99030670

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1204G>A; p.E402K; 7:99047710-99047710

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1240C>T; p.R414C; 7:99045792-99045792

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.669G>A; p.T223T; 7:99052257-99052257

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1500G>T; p.V500V; 7:99040506-99040506

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.55+2T>C; p.?; 7:99143724-99143724

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.2102C>T; p.A701V; 7:99033109-99033109

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2004G>A; p.T668T; 7:99035600-99035600

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2004G>A; p.T668T; 7:99035600-99035600

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2004G>A; p.T668T; 7:99035600-99035600

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.592G>A; p.V198M; 7:99052334-99052334

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1198C>T; p.R400C; 7:99047716-99047716

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.419G>A; p.R140Q; 7:99054850-99054850

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.738C>A; p.V246V; 7:99051425-99051425

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.738C>A; p.V246V; 7:99051425-99051425

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2264C>A; p.A755D; 7:99030594-99030594

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1263G>A; p.P421P; 7:99045769-99045769

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.145C>A; p.H49N; 7:99060657-99060657

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.48T>C; p.R16R; 7:99143733-99143733

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.438C>T; p.G146G; 7:99054831-99054831

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.438C>T; p.G146G; 7:99054831-99054831

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2103G>A; p.A701A; 7:99033108-99033108

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1297C>T; p.R433C; 7:99045735-99045735

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1837G>A; p.E613K; 7:99037117-99037117

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.886G>T; p.D296Y; 7:99049708-99049708

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1122C>T; p.Y374Y; 7:99047792-99047792

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1123G>A; p.E375K; 7:99047791-99047791

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2175-2A>T; p.?; 7:99030685-99030685

 livercarcinomaUnknown

c.2175-2A>T; p.?; 7:99030685-99030685

 livercarcinomaUnknown

c.1902C>T; p.G634G; 7:99035702-99035702

 livercarcinomaSubstitution - coding silent

c.1601A>T; p.E534V; 7:99040405-99040405

 livercarcinomaSubstitution - Missense

c.1629-2A>G; p.?; 7:99038527-99038527

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1454A>G; p.H485R; 7:99040552-99040552

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.56-2A>G; p.?; 7:99061839-99061839

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1090C>G; p.L364V; 7:99047824-99047824

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1918T>G; p.L640V; 7:99035686-99035686

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.252G>C; p.K84N; 7:99057503-99057503

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.97C>T; p.L33F; 7:99060705-99060705

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1093G>T; p.E365*; 7:99047821-99047821

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2051C>G; p.S684C; 7:99035553-99035553

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1155C>G; p.L385L; 7:99047759-99047759

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1287G>T; p.M429I; 7:99045745-99045745

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1309G>C; p.G437R; 7:99045723-99045723

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.371C>G; p.S124*; 7:99057237-99057237

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1123G>A; p.E375K; 7:99047791-99047791

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.780C>T; p.S260S; 7:99051383-99051383

 oesophaguscarcinomaSubstitution - coding silent

c.1242C>G; p.R414R; 7:99045790-99045790

 oesophaguscarcinomaSubstitution - coding silent

c.60A>T; p.L20F; 7:99061833-99061833

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2158C>A; p.P720T; 7:99033053-99033053

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1119A>G; p.R373R; 7:99047795-99047795

 oesophaguscarcinomaSubstitution - coding silent

c.1784G>T; p.R595M; 7:99037170-99037170

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1064C>A; p.P355Q; 7:99047850-99047850

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1279C>T; p.R427W; 7:99045753-99045753

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1756G>T; p.E586*; 7:99038398-99038398

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.884+10A>G; p.?; 7:99050905-99050905

 pancreascarcinoid-endocrine_tumourUnknown

c.1042C>T; p.Q348*; 7:99047872-99047872

 skinmalignant_melanomaSubstitution - Nonsense

c.419G>A; p.R140Q; 7:99054850-99054850

 skinmalignant_melanomaSubstitution - Missense

c.2077A>G; p.K693E; 7:99035527-99035527

 skinmalignant_melanomaSubstitution - Missense

c.1782G>A; p.W594*; 7:99037172-99037172

 skinmalignant_melanomaSubstitution - Nonsense

c.1267G>T; p.D423Y; 7:99045765-99045765

 skin; upper_legmalignant_melanomaSubstitution - Missense

c.1923C>T; p.N641N; 7:99035681-99035681

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1296C>T; p.F432F; 7:99045736-99045736

 skinmalignant_melanomaSubstitution - coding silent

c.282C>T; p.F94F; 7:99057473-99057473

 skin; nipplemalignant_melanomaSubstitution - coding silent

c.335G>A; p.G112E; 7:99057420-99057420

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.309T>G; p.N103K; 7:99057446-99057446

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.298C>T; p.L100L; 7:99057457-99057457

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.225G>A; p.S75S; 7:99057530-99057530

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.166A>G; p.N56D; 7:99060636-99060636

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.258T>A; p.I86I; 7:99057497-99057497

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.701C>T; p.P234L; 7:99052225-99052225

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.720C>T; p.Y240Y; 7:99052206-99052206

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1479G>A; p.G493G; 7:99040527-99040527

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.989G>A; p.R330Q; 7:99049605-99049605

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1686C>T; p.F562F; 7:99038468-99038468

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1790T>C; p.M597T; 7:99037164-99037164

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.637C>T; p.R213*; 7:99052289-99052289

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.637C>T; p.R213*; 7:99052289-99052289

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Nonsense

c.2067C>T; p.L689L; 7:99035537-99035537

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.2067C>T; p.L689L; 7:99035537-99035537

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1096G>T; p.D366Y; 7:99047818-99047818

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1800C>T; p.I600I; 7:99037154-99037154

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.734C>G; p.T245R; 7:99051429-99051429

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1255A>G; p.M419V; 7:99045777-99045777

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1255A>G; p.M419V; 7:99045777-99045777

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1812C>G; p.F604L; 7:99037142-99037142

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1812C>G; p.F604L; 7:99037142-99037142

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1380C>T; p.Y460Y; 7:99042187-99042187

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1155C>T; p.L385L; 7:99047759-99047759

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1155C>T; p.L385L; 7:99047759-99047759

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1157G>T; p.R386I; 7:99047757-99047757

 urinary_tract; bladdercarcinomaSubstitution - Missense