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

Basic Information

Gene ID

10801

Name

SEPT9

Synonymous

septin 9;SEPT9;septin 9

Definition

MLL septin-like fusion protein MSF-A|Ov/Br septin|ovarian/breast septin|septin D1|septin-9

Position

17q25

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.62C>A; p.P21H; 17:77402098-77402098

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; non_functioningSubstitution - Missense

c.764C>A; p.P255Q; 17:77482240-77482240

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.299A>C; p.Q100P; 17:77402335-77402335

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.300G>C; p.Q100H; 17:77402336-77402336

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.867C>G; p.S289R; 17:77487431-77487431

 breastcarcinomaSubstitution - Missense

c.1601C>T; p.T534I; 17:77498552-77498552

 breastcarcinomaSubstitution - Missense

c.1522G>A; p.E508K; 17:77497317-77497317

 breastcarcinoma; ER-PR-positive_carcinomaSubstitution - Missense

c.863A>T; p.Q288L; 17:77487427-77487427

 breastcarcinomaSubstitution - Missense

c.1598T>A; p.I533N; 17:77498549-77498549

 breastcarcinomaSubstitution - Missense

c.1151G>A; p.R384H; 17:77488807-77488807

 breastcarcinoma; ER-PR-positive_carcinomaSubstitution - Missense

c.865A>G; p.S289G; 17:77487429-77487429

 breastcarcinomaSubstitution - Missense

c.1597A>G; p.I533V; 17:77498548-77498548

 breastcarcinomaSubstitution - Missense

c.653C>T; p.P218L; 17:77402689-77402689

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.547G>A; p.A183T; 17:77402583-77402583

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1617C>T; p.F539F; 17:77498568-77498568

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1617C>T; p.F539F; 17:77498568-77498568

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.838G>A; p.E280K; 17:77482314-77482314

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.966C>T; p.I322I; 17:77487530-77487530

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1332C>T; p.T444T; 17:77492626-77492626

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.169G>A; p.A57T; 17:77402205-77402205

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.324C>A; p.G108G; 17:77402360-77402360

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1036C>T; p.P346S; 17:77488287-77488287

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1241G>A; p.R414H; 17:77490774-77490774

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1142G>A; p.R381H; 17:77488798-77488798

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.32G>T; p.R11I; 17:77402068-77402068

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.80G>A; p.R27Q; 17:77402116-77402116

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.438G>A; p.R146R; 17:77402474-77402474

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - coding silent

c.1071-5C>T; p.?; 17:77488722-77488722

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1406T>G; p.V469G; 17:77492700-77492700

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1202G>A; p.G401D; 17:77488858-77488858

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1074G>A; p.W358*; 17:77488730-77488730

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.233C>T; p.S78L; 17:77402269-77402269

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1657G>A; p.A553T; 17:77498608-77498608

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1617C>T; p.F539F; 17:77498568-77498568

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.371C>T; p.T124M; 17:77402407-77402407

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.218G>A; p.R73Q; 17:77402254-77402254

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1141C>T; p.R381C; 17:77488797-77488797

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.898C>A; p.L300I; 17:77487462-77487462

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.416C>T; p.P139L; 17:77402452-77402452

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.79C>T; p.R27W; 17:77402115-77402115

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1150C>T; p.R384C; 17:77488806-77488806

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.983C>T; p.T328M; 17:77487547-77487547

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.427G>A; p.A143T; 17:77402463-77402463

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.780C>T; p.Y260Y; 17:77482256-77482256

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1020G>C; p.L340L; 17:77488271-77488271

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1037C>A; p.P346Q; 17:77488288-77488288

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.380C>T; p.P127L; 17:77402416-77402416

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.548C>T; p.A183V; 17:77402584-77402584

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.197G>A; p.R66H; 17:77402233-77402233

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.360G>A; p.L120L; 17:77402396-77402396

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.148G>A; p.V50M; 17:77402184-77402184

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.266G>A; p.R89H; 17:77402302-77402302

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.266G>A; p.R89H; 17:77402302-77402302

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.266G>A; p.R89H; 17:77402302-77402302

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.266G>A; p.R89H; 17:77402302-77402302

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.32G>T; p.R11I; 17:77402068-77402068

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.362G>A; p.G121D; 17:77402398-77402398

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.656G>A; p.R219Q; 17:77402692-77402692

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.277T>C; p.S93P; 17:77402313-77402313

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.80G>A; p.R27Q; 17:77402116-77402116

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.818A>C; p.K273T; 17:77482294-77482294

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.493G>A; p.A165T; 17:77402529-77402529

 livercarcinomaSubstitution - Missense

c.1195G>T; p.A399S; 17:77488851-77488851

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1261A>G; p.I421V; 17:77490794-77490794

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.843C>G; p.F281L; 17:77482319-77482319

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.255G>T; p.P85P; 17:77402291-77402291

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.137A>G; p.Q46R; 17:77402173-77402173

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.381G>T; p.P127P; 17:77402417-77402417

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.955C>T; p.P319S; 17:77487519-77487519

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1556G>T; p.R519L; 17:77497351-77497351

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.419A>G; p.Q140R; 17:77402455-77402455

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.598C>G; p.Q200E; 17:77402634-77402634

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.540G>A; p.A180A; 17:77402576-77402576

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.546C>T; p.T182T; 17:77402582-77402582

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1038A>T; p.P346P; 17:77488289-77488289

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.613C>T; p.L205L; 17:77402649-77402649

 ovaryother; neoplasmSubstitution - coding silent

c.121T>G; p.S41A; 17:77402157-77402157

 pancreascarcinomaSubstitution - Missense

c.121T>G; p.S41A; 17:77402157-77402157

 pancreascarcinomaSubstitution - Missense

c.764C>T; p.P255L; 17:77482240-77482240

 pancreascarcinomaSubstitution - Missense

c.218G>A; p.R73Q; 17:77402254-77402254

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.704C>T; p.A235V; 17:77482180-77482180

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.516C>T; p.I172I; 17:77402552-77402552

 skinmalignant_melanomaSubstitution - coding silent

c.849C>T; p.I283I; 17:77482325-77482325

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.102C>T; p.L34L; 17:77402138-77402138

 skinmalignant_melanomaSubstitution - coding silent

c.73C>T; p.P25S; 17:77402109-77402109

 skinmalignant_melanomaSubstitution - Missense

c.96C>T; p.P32P; 17:77402132-77402132

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1106A>G; p.Y369C; 17:77488762-77488762

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.95C>T; p.P32L; 17:77402131-77402131

 skinmalignant_melanomaSubstitution - Missense

c.147C>T; p.G49G; 17:77402183-77402183

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.218G>A; p.R73Q; 17:77402254-77402254

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1130T>A; p.V377D; 17:77488786-77488786

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1555C>T; p.R519W; 17:77497350-77497350

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1364A>T; p.Y455F; 17:77492658-77492658

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.838G>A; p.E280K; 17:77482314-77482314

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.949C>T; p.R317C; 17:77487513-77487513

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1168G>A; p.V390I; 17:77488824-77488824

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.158C>G; p.S53*; 17:77402194-77402194

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Nonsense

c.553A>T; p.S185C; 17:77402589-77402589

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.776G>A; p.G259D; 17:77482252-77482252

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.533C>A; p.A178D; 17:77402569-77402569

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1672A>G; p.M558V; 17:77498623-77498623

 thyroidother; neoplasmSubstitution - Missense

c.1420C>T; p.R474W; 17:77492714-77492714

 thyroidother; neoplasmSubstitution - Missense

c.1071-1G>T; p.?; 17:77488726-77488726

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaUnknown

c.1071-1G>T; p.?; 17:77488726-77488726

 upper_aerodigestive_tract; mouthcarcinomaUnknown