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

Basic Information

Gene ID

7251

Name

TSG101

Synonymous

tumor susceptibility 101;TSG101;tumor susceptibility 101

Definition

ESCRT-I complex subunit TSG101|tumor susceptibility gene 10|tumor susceptibility gene 101|tumor susceptibility gene 101 protein|tumor susceptibility protein

Position

11p15

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 0.31.

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.552T>C; p.G184G; 11:18502574-18502574

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.232G>T; p.D78Y; 11:18514803-18514803

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.44A>G; p.Y15C; 11:18519602-18519602

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.790A>G; p.K264E; 11:18483923-18483923

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.521A>G; p.Y174C; 11:18506884-18506884

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.889G>T; p.E297*; 11:18481824-18481824

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.886G>T; p.E296*; 11:18481827-18481827

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.438T>A; p.I146I; 11:18509585-18509585

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.846C>T; p.A282A; 11:18481867-18481867

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.960C>T; p.P320P; 11:18481753-18481753

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.580G>A; p.G194S; 11:18502546-18502546

 livercarcinomaSubstitution - Missense

c.1039G>T; p.E347*; 11:18481674-18481674

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.508G>A; p.G170R; 11:18506897-18506897

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.42G>A; p.K14K; 11:18526775-18526775

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.754G>T; p.E252*; 11:18483959-18483959

 autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.1152C>A; p.A384A; 11:18480567-18480567

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1069G>A; p.D357N; 11:18481644-18481644

 breastcarcinomaSubstitution - Missense

c.992T>C; p.L331P; 11:18481721-18481721

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.1102C>T; p.R368C; 11:18480617-18480617

 upper_aerodigestive_tract; sinonasal_and_nasal_cavitycarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.469G>A; p.G157R; 11:18509554-18509554

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.67C>T; p.R23C; 11:18519579-18519579

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.555C>A; p.Y185*; 11:18502571-18502571

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.555C>A; p.Y185*; 11:18502571-18502571

 prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.555C>A; p.Y185*; 11:18502571-18502571

 breastcarcinomaSubstitution - Nonsense

c.555C>A; p.Y185*; 11:18502571-18502571

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.1008C>T; p.N336N; 11:18481705-18481705

 central_nervous_system; braingliomaSubstitution - coding silent

c.991C>T; p.L331L; 11:18481722-18481722

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.967C>T; p.P323S; 11:18481746-18481746

 skinmalignant_melanomaSubstitution - Missense

c.794delA; p.K265fs*13; 11:18483919-18483919

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.794delA; p.K265fs*13; 11:18483919-18483919

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.440C>T; p.S147L; 11:18509583-18509583

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1057G>A; p.V353M; 11:18481656-18481656

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.800A>G; p.H267R; 11:18483913-18483913

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.644C>T; p.P215L; 11:18484069-18484069

 skinmalignant_melanomaSubstitution - Missense

c.153A>G; p.E51E; 11:18516139-18516139

 prostatecarcinomaSubstitution - coding silent

c.1068_1069GG>CT; p.D357Y; 11:18481644-18481645

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.43-2A>C; p.?; 11:18519605-18519605

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.391A>G; p.M131V; 11:18509632-18509632

 breastcarcinomaSubstitution - Missense

c.1026C>A; p.I342I; 11:18481687-18481687

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.750G>T; p.Q250H; 11:18483963-18483963

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.195T>C; p.G65G; 11:18514840-18514840

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1033T>C; p.L345L; 11:18481680-18481680

 kidneyother; neoplasmSubstitution - coding silent

c.94T>A; p.Y32N; 11:18519552-18519552

 skin; extremitymalignant_melanomaSubstitution - Missense

c.103C>G; p.L35V; 11:18519543-18519543

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.108A>C; p.K36N; 11:18519538-18519538

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.760A>C; p.N254H; 11:18483953-18483953

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.211C>T; p.P71S; 11:18514824-18514824

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1167C>T; p.L389L; 11:18480552-18480552

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.486C>A; p.S162S; 11:18506919-18506919

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.942C>T; p.I314I; 11:18481771-18481771

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.518C>T; p.P173L; 11:18506887-18506887

 skinmalignant_melanomaSubstitution - Missense

c.565C>T; p.P189S; 11:18502561-18502561

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.826C>T; p.R276C; 11:18483887-18483887

 prostatecarcinomaSubstitution - Missense

c.573A>C; p.P191P; 11:18502553-18502553

 breastcarcinomaSubstitution - coding silent

c.860_861insA; p.N287fs*10; 11:18481852-18481853

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1153G>T; p.G385C; 11:18480566-18480566

 bone; humeruschondrosarcomaSubstitution - Missense

c.485C>T; p.S162F; 11:18506920-18506920

 skinmalignant_melanomaSubstitution - Missense

c.492G>A; p.M164I; 11:18506913-18506913

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.729G>T; p.K243N; 11:18483984-18483984

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.729G>T; p.K243N; 11:18483984-18483984

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.729G>T; p.K243N; 11:18483984-18483984

 large_intestine; coloncarcinomaSubstitution - Missense

c.729G>T; p.K243N; 11:18483984-18483984

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.431G>A; p.R144H; 11:18509592-18509592

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1017A>G; p.E339E; 11:18481696-18481696

 breastcarcinomaSubstitution - coding silent

c.194-2A>C; p.?; 11:18514843-18514843

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.794A>G; p.K265R; 11:18483919-18483919

 thyroidcarcinomaSubstitution - Missense

c.794A>G; p.K265R; 11:18483919-18483919

 thyroidcarcinomaSubstitution - Missense

c.794A>G; p.K265R; 11:18483919-18483919

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.781G>A; p.E261K; 11:18483932-18483932

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.549-3delT; p.?; 11:18502580-18502580

 ovarycarcinoma; serous_carcinomaUnknown

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