General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
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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 |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
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 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; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.243C>T; p.L81L; 7:73574401-73574401 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.91T>G; p.W31G; 7:73578459-73578459 |
pancreas | carcinoma | Substitution - Missense |
c.500C>T; p.T167I; 7:73573418-73573418 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1189C>T; p.R397W; 7:73570662-73570662 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.481C>T; p.L161F; 7:73573437-73573437 |
skin | malignant_melanoma | Substitution - Missense |
c.1264G>T; p.E422*; 7:73570587-73570587 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.738G>T; p.S246S; 7:73571329-73571329 |
pancreas | carcinoma | Substitution - coding silent |
c.22G>C; p.E8Q; 7:73578528-73578528 |
breast | carcinoma | Substitution - Missense |
c.238C>T; p.R80C; 7:73574406-73574406 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.952C>T; p.P318S; 7:73570899-73570899 |
skin | malignant_melanoma | Substitution - Missense |
c.45G>T; p.L15F; 7:73578505-73578505 |
thyroid | carcinoma | Substitution - Missense |
c.973C>T; p.R325C; 7:73570878-73570878 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.212A>T; p.K71M; 7:73574432-73574432 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.565G>T; p.A189S; 7:73573353-73573353 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1021C>T; p.P341S; 7:73570830-73570830 |
skin | malignant_melanoma | Substitution - Missense |
c.955T>C; p.Y319H; 7:73570896-73570896 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1028C>T; p.A343V; 7:73570823-73570823 |
skin | malignant_melanoma | Substitution - Missense |
c.485G>A; p.R162H; 7:73573433-73573433 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1028C>G; p.A343G; 7:73570823-73570823 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1169C>T; p.S390F; 7:73570682-73570682 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1061T>G; p.I354S; 7:73570790-73570790 |
thyroid | carcinoma | Substitution - Missense |
c.239G>A; p.R80H; 7:73574405-73574405 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.97C>T; p.R33C; 7:73578453-73578453 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.986C>G; p.A329G; 7:73570865-73570865 |
prostate | carcinoma | Substitution - Missense |
c.993T>C; p.G331G; 7:73570858-73570858 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.391A>G; p.R131G; 7:73573993-73573993 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.390G>A; p.M130I; 7:73573994-73573994 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.51G>A; p.G17G; 7:73578499-73578499 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.636C>T; p.V212V; 7:73572933-73572933 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.636C>T; p.V212V; 7:73572933-73572933 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.484C>T; p.R162C; 7:73573434-73573434 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.992G>A; p.G331D; 7:73570859-73570859 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.315G>T; p.L105L; 7:73574069-73574069 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.595A>C; p.T199P; 7:73573323-73573323 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.471C>T; p.N157N; 7:73573447-73573447 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1198C>G; p.H400D; 7:73570653-73570653 |
breast | carcinoma | Substitution - Missense |
c.566C>T; p.A189V; 7:73573352-73573352 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.279A>T; p.I93I; 7:73574105-73574105 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.344G>A; p.R115H; 7:73574040-73574040 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.505C>T; p.R169W; 7:73573413-73573413 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.190T>C; p.Y64H; 7:73574454-73574454 |
liver | carcinoma | Substitution - Missense |
c.1110G>T; p.R370R; 7:73570741-73570741 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1144G>A; p.D382N; 7:73570707-73570707 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1185G>A; p.A395A; 7:73570666-73570666 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.343C>T; p.R115C; 7:73574041-73574041 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1198C>T; p.H400Y; 7:73570653-73570653 |
skin | malignant_melanoma | Substitution - Missense |
c.1131C>T; p.A377A; 7:73570720-73570720 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - coding silent |
c.760A>G; p.K254E; 7:73571307-73571307 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.43T>C; p.L15L; 7:73578507-73578507 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.117C>A; p.S39R; 7:73578433-73578433 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.812G>A; p.R271Q; 7:73571255-73571255 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.838G>A; p.A280T; 7:73571229-73571229 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.384C>T; p.R128R; 7:73574000-73574000 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.436C>T; p.P146S; 7:73573948-73573948 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.40G>T; p.V14L; 7:73578510-73578510 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.705T>G; p.A235A; 7:73572864-73572864 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.244C>A; p.L82M; 7:73574400-73574400 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.837C>A; p.S279S; 7:73571230-73571230 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.549C>T; p.F183F; 7:73573369-73573369 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1338G>T; p.K446N; 7:73570513-73570513 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1096G>C; p.E366Q; 7:73570755-73570755 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584G>A; p.G195D; 7:73573334-73573334 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1175G>T; p.G392V; 7:73570676-73570676 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.308A>C; p.K103T; 7:73574076-73574076 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1132A>G; p.N378D; 7:73570719-73570719 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1060A>G; p.I354V; 7:73570791-73570791 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.789G>T; p.K263N; 7:73571278-73571278 |
breast | carcinoma | Substitution - Missense |
c.616G>A; p.A206T; 7:73572953-73572953 |
breast | carcinoma | Substitution - Missense |
c.492C>G; p.F164L; 7:73573426-73573426 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.971G>T; p.G324V; 7:73570880-73570880 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.550C>T; p.P184S; 7:73573368-73573368 |
skin | malignant_melanoma | Substitution - Missense |
c.550C>T; p.P184S; 7:73573368-73573368 |
skin | malignant_melanoma | Substitution - Missense |
c.9C>T; p.L3L; 7:73578541-73578541 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.271G>T; p.G91W; 7:73574113-73574113 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.838G>T; p.A280S; 7:73571229-73571229 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.975C>T; p.R325R; 7:73570876-73570876 |
skin | malignant_melanoma | Substitution - coding silent |
c.576C>T; p.I192I; 7:73573342-73573342 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1190G>A; p.R397Q; 7:73570661-73570661 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1120G>A; p.E374K; 7:73570731-73570731 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.121C>T; p.R41W; 7:73578429-73578429 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.754G>A; p.D252N; 7:73571313-73571313 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |