Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

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

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.17.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - Missense

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - 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.456G>A; p.K152K; 12:102958700-102958700

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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

 thyroidother; neoplasmSubstitution - coding silent

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

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

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

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

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

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

 biliary_tract; bile_ductcarcinoma; adenocarcinomaDeletion - In frame

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

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

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

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

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

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

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

 urinary_tract; bladdercarcinomaSubstitution - Missense

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

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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

 pancreascarcinomaSubstitution - Missense

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

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

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

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

 pancreascarcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - coding silent

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

 thyroidcarcinomaSubstitution - Missense

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

 NSNSComplex

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

 NSNSComplex

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

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

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

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

 pancreascarcinomaSubstitution - coding silent

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

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

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

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

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

 NSNSDeletion - Frameshift

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

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

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

 stomachcarcinoma; diffuse_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

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