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

Basic Information

Gene ID

26608

Name

TBL2

Synonymous

transducin (beta)-like 2;TBL2;transducin (beta)-like 2

Definition

WS beta-transducin repeats protein|Williams-Beuren syndrome chromosome region 13|transducin beta-like protein 2

Position

7q11.23

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 0.03.

The copy number variations for various cancers

Top

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.539delC; p.P180fs*25; 7:73573379-73573379

large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.243C>T; p.L81L; 7:73574401-73574401

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.91T>G; p.W31G; 7:73578459-73578459

pancreascarcinomaSubstitution - Missense

c.500C>T; p.T167I; 7:73573418-73573418

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1189C>T; p.R397W; 7:73570662-73570662

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.481C>T; p.L161F; 7:73573437-73573437

skinmalignant_melanomaSubstitution - Missense

c.1264G>T; p.E422*; 7:73570587-73570587

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.738G>T; p.S246S; 7:73571329-73571329

pancreascarcinomaSubstitution - coding silent

c.22G>C; p.E8Q; 7:73578528-73578528

breastcarcinomaSubstitution - Missense

c.238C>T; p.R80C; 7:73574406-73574406

autonomic_ganglianeuroblastomaSubstitution - Missense

c.952C>T; p.P318S; 7:73570899-73570899

skinmalignant_melanomaSubstitution - Missense

c.45G>T; p.L15F; 7:73578505-73578505

thyroidcarcinomaSubstitution - Missense

c.973C>T; p.R325C; 7:73570878-73570878

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.212A>T; p.K71M; 7:73574432-73574432

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.565G>T; p.A189S; 7:73573353-73573353

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1021C>T; p.P341S; 7:73570830-73570830

skinmalignant_melanomaSubstitution - Missense

c.955T>C; p.Y319H; 7:73570896-73570896

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1028C>T; p.A343V; 7:73570823-73570823

skinmalignant_melanomaSubstitution - Missense

c.485G>A; p.R162H; 7:73573433-73573433

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1028C>G; p.A343G; 7:73570823-73570823

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1169C>T; p.S390F; 7:73570682-73570682

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1061T>G; p.I354S; 7:73570790-73570790

thyroidcarcinomaSubstitution - Missense

c.239G>A; p.R80H; 7:73574405-73574405

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.97C>T; p.R33C; 7:73578453-73578453

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.986C>G; p.A329G; 7:73570865-73570865

prostatecarcinomaSubstitution - Missense

c.993T>C; p.G331G; 7:73570858-73570858

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.391A>G; p.R131G; 7:73573993-73573993

urinary_tract; bladdercarcinomaSubstitution - Missense

c.390G>A; p.M130I; 7:73573994-73573994

skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.51G>A; p.G17G; 7:73578499-73578499

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.636C>T; p.V212V; 7:73572933-73572933

upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.636C>T; p.V212V; 7:73572933-73572933

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.484C>T; p.R162C; 7:73573434-73573434

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.992G>A; p.G331D; 7:73570859-73570859

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.315G>T; p.L105L; 7:73574069-73574069

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.595A>C; p.T199P; 7:73573323-73573323

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.471C>T; p.N157N; 7:73573447-73573447

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1198C>G; p.H400D; 7:73570653-73570653

breastcarcinomaSubstitution - Missense

c.566C>T; p.A189V; 7:73573352-73573352

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.279A>T; p.I93I; 7:73574105-73574105

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.344G>A; p.R115H; 7:73574040-73574040

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.505C>T; p.R169W; 7:73573413-73573413

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.190T>C; p.Y64H; 7:73574454-73574454

livercarcinomaSubstitution - Missense

c.1110G>T; p.R370R; 7:73570741-73570741

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1144G>A; p.D382N; 7:73570707-73570707

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1185G>A; p.A395A; 7:73570666-73570666

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.343C>T; p.R115C; 7:73574041-73574041

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1198C>T; p.H400Y; 7:73570653-73570653

skinmalignant_melanomaSubstitution - Missense

c.1131C>T; p.A377A; 7:73570720-73570720

skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - coding silent

c.760A>G; p.K254E; 7:73571307-73571307

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.43T>C; p.L15L; 7:73578507-73578507

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.117C>A; p.S39R; 7:73578433-73578433

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.812G>A; p.R271Q; 7:73571255-73571255

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.838G>A; p.A280T; 7:73571229-73571229

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.384C>T; p.R128R; 7:73574000-73574000

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.436C>T; p.P146S; 7:73573948-73573948

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.40G>T; p.V14L; 7:73578510-73578510

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.705T>G; p.A235A; 7:73572864-73572864

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.244C>A; p.L82M; 7:73574400-73574400

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.837C>A; p.S279S; 7:73571230-73571230

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.549C>T; p.F183F; 7:73573369-73573369

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1338G>T; p.K446N; 7:73570513-73570513

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1096G>C; p.E366Q; 7:73570755-73570755

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.584G>A; p.G195D; 7:73573334-73573334

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1175G>T; p.G392V; 7:73570676-73570676

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.308A>C; p.K103T; 7:73574076-73574076

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1132A>G; p.N378D; 7:73570719-73570719

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1060A>G; p.I354V; 7:73570791-73570791

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.789G>T; p.K263N; 7:73571278-73571278

breastcarcinomaSubstitution - Missense

c.616G>A; p.A206T; 7:73572953-73572953

breastcarcinomaSubstitution - Missense

c.492C>G; p.F164L; 7:73573426-73573426

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.971G>T; p.G324V; 7:73570880-73570880

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.550C>T; p.P184S; 7:73573368-73573368

skinmalignant_melanomaSubstitution - Missense

c.550C>T; p.P184S; 7:73573368-73573368

skinmalignant_melanomaSubstitution - Missense

c.9C>T; p.L3L; 7:73578541-73578541

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.271G>T; p.G91W; 7:73574113-73574113

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.838G>T; p.A280S; 7:73571229-73571229

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.975C>T; p.R325R; 7:73570876-73570876

skinmalignant_melanomaSubstitution - coding silent

c.576C>T; p.I192I; 7:73573342-73573342

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1190G>A; p.R397Q; 7:73570661-73570661

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1120G>A; p.E374K; 7:73570731-73570731

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.121C>T; p.R41W; 7:73578429-73578429

skin; trunkmalignant_melanomaSubstitution - Missense

c.754G>A; p.D252N; 7:73571313-73571313

lungcarcinoma; small_cell_carcinomaSubstitution - Missense


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