ONGene
Top
Scroll To Top
Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

6426

Name

SRSF1

Synonymous

serine/arginine-rich splicing factor 1;SRSF1;serine/arginine-rich splicing factor 1

Definition

SR splicing factor 1|alternative-splicing factor 1|pre-mRNA-splicing factor SF2, P33 subunit|splicing factor 2|splicing factor, arginine/serine-rich, 30-KD, A

Position

17q22

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.174C>T; p.F58F; 17:58006964-58006964

 breastcarcinomaSubstitution - coding silent

c.265C>T; p.P89S; 17:58006457-58006457

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.387T>C; p.P129P; 17:58005966-58005966

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.158G>A; p.G53E; 17:58006980-58006980

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.453T>C; p.D151D; 17:58005900-58005900

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.731C>A; p.S244Y; 17:58005422-58005422

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.441A>G; p.V147V; 17:58005912-58005912

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.478G>A; p.V160M; 17:58005875-58005875

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.9delA; p.G4fs*3; 17:58007129-58007129

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaDeletion - Frameshift

c.9delA; p.G4fs*3; 17:58007129-58007129

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaDeletion - Frameshift

c.246C>G; p.Y82*; 17:58006476-58006476

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Nonsense

c.246C>G; p.Y82*; 17:58006476-58006476

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Nonsense

c.103G>A; p.V35M; 17:58007035-58007035

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.552+2T>C; p.?; 17:58005799-58005799

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.43G>T; p.D15Y; 17:58007095-58007095

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.246C>A; p.Y82*; 17:58006476-58006476

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.152G>C; p.R51P; 17:58006986-58006986

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.344_345insC; p.S116fs*5; 17:58006377-58006378

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.325C>A; p.R109R; 17:58006397-58006397

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.468C>T; p.G156G; 17:58005885-58005885

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.414G>T; p.K138N; 17:58005939-58005939

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.444T>C; p.C148C; 17:58005909-58005909

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.318A>C; p.G106G; 17:58006404-58006404

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.553-1G>T; p.?; 17:58005601-58005601

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.344delC; p.P115fs*23; 17:58006378-58006378

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.344delC; p.P115fs*23; 17:58006378-58006378

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.125T>A; p.I42N; 17:58007013-58007013

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.502A>G; p.M168V; 17:58005851-58005851

 livercarcinomaSubstitution - Missense

c.502A>G; p.M168V; 17:58005851-58005851

 livercarcinomaSubstitution - Missense

c.106T>G; p.F36V; 17:58007032-58007032

 livercarcinomaSubstitution - Missense

c.106T>G; p.F36V; 17:58007032-58007032

 livercarcinomaSubstitution - Missense

c.186G>T; p.E62D; 17:58006952-58006952

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.239A>G; p.D80G; 17:58006483-58006483

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.541A>G; p.R181G; 17:58005812-58005812

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.461G>T; p.R154L; 17:58005892-58005892

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.367G>C; p.V123L; 17:58006355-58006355

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.704C>T; p.P235L; 17:58005449-58005449

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.117C>A; p.Y39*; 17:58007021-58007021

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.420C>A; p.H140Q; 17:58005933-58005933

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.151C>T; p.R51C; 17:58006987-58006987

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.290G>A; p.R97Q; 17:58006432-58006432

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.568A>T; p.I190F; 17:58005585-58005585

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.527A>G; p.D176G; 17:58005826-58005826

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.256G>A; p.V86M; 17:58006466-58006466

 skin; legmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.550G>A; p.E184K; 17:58005803-58005803

 skin; trunkmalignant_melanomaSubstitution - Missense

c.565T>C; p.Y189H; 17:58005588-58005588

 skinmalignant_melanomaSubstitution - Missense

c.401G>T; p.W134L; 17:58005952-58005952

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.560C>T; p.T187I; 17:58005593-58005593

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.570C>T; p.I190I; 17:58005583-58005583

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.742A>G; p.T248A; 17:58005411-58005411

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.548A>G; p.H183R; 17:58005805-58005805

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.548A>G; p.H183R; 17:58005805-58005805

 stomachadenocarcinomaSubstitution - Missense

c.36G>A; p.G12G; 17:58007102-58007102

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.168C>A; p.F56L; 17:58006970-58006970

 thyroidother; neoplasmSubstitution - Missense

c.401G>C; p.W134S; 17:58005952-58005952

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.401G>C; p.W134S; 17:58005952-58005952

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.254G>A; p.R85Q; 17:58006468-58006468

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.451G>C; p.D151H; 17:58005902-58005902

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.583G>C; p.D195H; 17:58005570-58005570

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.713C>T; p.S238F; 17:58005440-58005440

 urinary_tract; bladdercarcinomaSubstitution - Missense