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

Basic Information

Gene ID

7040

Name

TGFB1

Synonymous

transforming growth factor, beta 1;TGFB1;transforming growth factor, beta 1

Definition

TGF-beta-1|latency-associated peptide|prepro-transforming growth factor beta-1|transforming growth factor beta-1

Position

19q13.1

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

Top

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 0.04.

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.601A>T; p.T201S; 19:41344780-41344780

 ovaryother; neoplasmSubstitution - Missense

c.601A>T; p.T201S; 19:41344780-41344780

 ovaryother; neoplasmSubstitution - Missense

c.99C>T; p.C33C; 19:41352946-41352946

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.1155C>T; p.R385R; 19:41331070-41331070

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.245_247delACA; p.N82delN; 19:41352798-41352800

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.730C>T; p.R244*; 19:41342013-41342013

 lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.629G>A; p.R210H; 19:41344752-41344752

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.672C>A; p.S224S; 19:41342210-41342210

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.86G>A; p.G29E; 19:41352959-41352959

 ovaryother; neoplasmSubstitution - Missense

c.524G>A; p.S175N; 19:41344857-41344857

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.368A>T; p.K123M; 19:41348443-41348443

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.661G>A; p.A221T; 19:41342221-41342221

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1001C>T; p.T334M; 19:41332141-41332141

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.41C>T; p.P14L; 19:41353004-41353004

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.257A>G; p.D86G; 19:41352788-41352788

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.711C>T; p.N237N; 19:41342171-41342171

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.248G>T; p.S83I; 19:41352797-41352797

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.370T>C; p.F124L; 19:41348441-41348441

 skinmalignant_melanomaSubstitution - Missense

c.914A>G; p.D305G; 19:41332228-41332228

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.72C>A; p.G24G; 19:41352973-41352973

 breastcarcinomaSubstitution - coding silent

c.887G>C; p.R296P; 19:41332255-41332255

 breastcarcinomaSubstitution - Missense

c.934C>T; p.H312Y; 19:41332208-41332208

 skin; acralmalignant_melanomaSubstitution - Missense

c.752A>C; p.H251P; 19:41341991-41341991

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.713-9delC; p.?; 19:41342039-41342039

 large_intestine; coloncarcinomaUnknown

c.713-9delC; p.?; 19:41342039-41342039

 ovarycarcinomaUnknown

c.713-9delC; p.?; 19:41342039-41342039

 central_nervous_system; braingliomaUnknown

c.713-9delC; p.?; 19:41342039-41342039

 central_nervous_system; cerebrumglioma; astrocytoma_Grade_IVUnknown

c.785C>A; p.A262D; 19:41341958-41341958

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.534C>G; p.S178S; 19:41344847-41344847

 pancreascarcinomaSubstitution - coding silent

c.307T>C; p.Y103H; 19:41352738-41352738

 large_intestine; coloncarcinomaSubstitution - Missense

c.85G>A; p.G29R; 19:41352960-41352960

 breastcarcinomaSubstitution - Missense

c.467G>A; p.R156H; 19:41348344-41348344

 stomachadenocarcinomaSubstitution - Missense

c.595G>T; p.D199Y; 19:41344786-41344786

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.542A>G; p.Y181C; 19:41344839-41344839

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.517-1G>T; p.?; 19:41344865-41344865

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.997G>A; p.D333N; 19:41332145-41332145

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.788C>T; p.T263I; 19:41341955-41341955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.614G>T; p.R205L; 19:41344767-41344767

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.456G>A; p.R152R; 19:41348355-41348355

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.836C>T; p.A279V; 19:41341907-41341907

 skin; extremitymalignant_melanomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 thyroidother; neoplasmSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.29C>T; p.P10L; 19:41353016-41353016

 large_intestineadenomaSubstitution - Missense

c.860+1G>T; p.?; 19:41341882-41341882

 lungcarcinoma; adenocarcinomaUnknown

c.370T>G; p.F124V; 19:41348441-41348441

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.528C>T; p.N176N; 19:41344853-41344853

 livercarcinomaSubstitution - coding silent

c.606A>G; p.G202G; 19:41344775-41344775

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.829C>T; p.R277C; 19:41341914-41341914

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.528C>T; p.N176N; 19:41344853-41344853

 livercarcinomaSubstitution - coding silent

c.570C>T; p.S190S; 19:41344811-41344811

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.784G>A; p.A262T; 19:41341959-41341959

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.295C>A; p.P99T; 19:41352750-41352750

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

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