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

Basic Information

Gene ID

429

Name

ASCL1

Synonymous

achaete-scute family bHLH transcription factor 1;ASCL1;achaete-scute family bHLH transcription factor 1

Definition

ASH-1|achaete scute protein|achaete-scute complex homolog 1|achaete-scute complex-like 1|achaete-scute homolog 1|class A basic helix-loop-helix protein 46

Position

12q23.2

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.150_152delGCA; p.Q62delQ; 12:102958394-102958396

 biliary_tract; bile_ductcarcinoma; adenocarcinomaDeletion - In frame

c.389G>A; p.R130H; 12:102958633-102958633

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.351G>A; p.P117P; 12:102958595-102958595

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.339G>A; p.P113P; 12:102958583-102958583

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.389G>A; p.R130H; 12:102958633-102958633

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.559G>T; p.G187C; 12:102958803-102958803

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.559G>T; p.G187C; 12:102958803-102958803

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.383G>A; p.R128H; 12:102958627-102958627

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.149_150insGCA; p.Q62_A63insQ; 12:102958393-102958394

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.149_150insGCA; p.Q62_A63insQ; 12:102958393-102958394

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.149_150insGCA; p.Q62_A63insQ; 12:102958393-102958394

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.529C>T; p.H177Y; 12:102958773-102958773

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.536C>T; p.A179V; 12:102958780-102958780

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.291G>A; p.M97I; 12:102958535-102958535

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.447G>A; p.A149A; 12:102958691-102958691

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.441C>T; p.N147N; 12:102958685-102958685

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.504C>T; p.R168R; 12:102958748-102958748

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.444C>T; p.G148G; 12:102958688-102958688

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.444C>T; p.G148G; 12:102958688-102958688

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.386A>G; p.N129S; 12:102958630-102958630

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.386A>G; p.N129S; 12:102958630-102958630

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.485C>T; p.S162L; 12:102958729-102958729

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.359T>A; p.V120E; 12:102958603-102958603

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.561C>G; p.G187G; 12:102958805-102958805

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.330C>A; p.Y110*; 12:102958574-102958574

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.488_490CGG>CG; p.A163fs; 12:102958732-102958734

 NSNSComplex

c.488_490CGG>CG; p.A163fs; 12:102958732-102958734

 NSNSComplex

c.490delG; p.V164fs*17; 12:102958734-102958734

 NSNSDeletion - Frameshift

c.456G>A; p.K152K; 12:102958700-102958700

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.272C>T; p.S91L; 12:102958516-102958516

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.616G>A; p.G206S; 12:102958860-102958860

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.445G>A; p.A149T; 12:102958689-102958689

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.307C>T; p.L103F; 12:102958551-102958551

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.41A>T; p.Q14L; 12:102958285-102958285

 pancreascarcinomaSubstitution - Missense

c.429G>C; p.E143D; 12:102958673-102958673

 pancreascarcinomaSubstitution - Missense

c.447G>A; p.A149A; 12:102958691-102958691

 pancreascarcinomaSubstitution - coding silent

c.341A>T; p.Q114L; 12:102958585-102958585

 skinmalignant_melanomaSubstitution - Missense

c.653C>T; p.S218F; 12:102958897-102958897

 skinmalignant_melanomaSubstitution - Missense

c.471G>A; p.V157V; 12:102958715-102958715

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.248_249CC>TT; p.P83L; 12:102958492-102958493

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.324T>C; p.F108F; 12:102958568-102958568

 skinmalignant_melanomaSubstitution - coding silent

c.278C>T; p.S93L; 12:102958522-102958522

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.621G>A; p.S207S; 12:102958865-102958865

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.302G>A; p.R101H; 12:102958546-102958546

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.536C>G; p.A179G; 12:102958780-102958780

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.188C>T; p.A63V; 12:102958432-102958432

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.239A>G; p.K80R; 12:102958483-102958483

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.322T>G; p.F108V; 12:102958566-102958566

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.566T>A; p.L189Q; 12:102958810-102958810

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.543C>T; p.S181S; 12:102958787-102958787

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.301C>T; p.R101C; 12:102958545-102958545

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.582C>T; p.S194S; 12:102958826-102958826

 thyroidother; neoplasmSubstitution - coding silent

c.481C>A; p.R161S; 12:102958725-102958725

 thyroidcarcinomaSubstitution - Missense

c.332G>T; p.S111I; 12:102958576-102958576

 urinary_tract; bladdercarcinomaSubstitution - Missense