| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 8848 |
Name | TSC22D1 |
Synonymous | TSC22 domain family, member 1;TSC22D1;TSC22 domain family, member 1 |
Definition | TGFB-stimulated clone 22 homolog|TGFbeta-stimulated clone 22|TSC22 domain family protein 1|cerebral protein 2|regulatory protein TSC-22|transcriptional regulator TSC-22|transforming growth factor beta-1-induced transcript 4 protein|transforming growth fac |
Position | 13q14 |
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 |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
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Loss of Function mutations compare to missense mutations | Top |
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| The ratio of the loss-of-function mutations over missense mutations is 0.10. |
The copy number variations for various cancers | Top |
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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.2293G>T; p.V765F; 13:44573782-44573782 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.366C>G; p.S122S; 13:44575709-44575709 |
thyroid | carcinoma | Substitution - coding silent |
c.546A>C; p.E182D; 13:44575529-44575529 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.546A>C; p.E182D; 13:44575529-44575529 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3147T>C; p.P1049P; 13:44434701-44434701 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3191C>T; p.P1064L; 13:44434657-44434657 |
skin | malignant_melanoma | Substitution - Missense |
c.1432A>T; p.S478C; 13:44574643-44574643 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3147T>C; p.P1049P; 13:44434701-44434701 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2843C>A; p.A948D; 13:44573232-44573232 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1503_1505delGCA; p.Q509delQ; 13:44574570-44574572 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - In frame |
c.1503_1505delGCA; p.Q509delQ; 13:44574570-44574572 |
breast | carcinoma | Deletion - In frame |
c.1910C>A; p.S637Y; 13:44574165-44574165 |
breast | carcinoma | Substitution - Missense |
c.3146delC; p.P1049fs*>25; 13:44434702-44434702 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3146delC; p.P1049fs*>25; 13:44434702-44434702 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3146delC; p.P1049fs*>25; 13:44434702-44434702 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3151A>C; p.T1051P; 13:44434697-44434697 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.542A>C; p.Q181P; 13:44575533-44575533 |
breast | carcinoma | Substitution - Missense |
c.1651T>C; p.S551P; 13:44574424-44574424 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2695G>A; p.A899T; 13:44573380-44573380 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2884A>G; p.T962A; 13:44573191-44573191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.498G>A; p.G166G; 13:44575577-44575577 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2667G>A; p.Q889Q; 13:44573408-44573408 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.898G>T; p.G300C; 13:44575177-44575177 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1541G>T; p.G514V; 13:44574534-44574534 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.881G>A; p.R294H; 13:44575194-44575194 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2302G>T; p.A768S; 13:44573773-44573773 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1669C>G; p.Q557E; 13:44574406-44574406 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.1920G>A; p.M640I; 13:44574155-44574155 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1172G>A; p.G391E; 13:44574903-44574903 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1777C>G; p.Q593E; 13:44574298-44574298 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.321G>C; p.K107N; 13:44575754-44575754 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.381T>C; p.S127S; 13:44575694-44575694 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1702C>A; p.Q568K; 13:44574373-44574373 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1515A>G; p.Q505Q; 13:44574560-44574560 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2729T>C; p.I910T; 13:44573346-44573346 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1808C>T; p.P603L; 13:44574267-44574267 |
breast | carcinoma | Substitution - Missense |
c.1263delA; p.G422fs*22; 13:44574812-44574812 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1503G>A; p.Q501Q; 13:44574572-44574572 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1503G>A; p.Q501Q; 13:44574572-44574572 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.1503G>A; p.Q501Q; 13:44574572-44574572 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1503G>A; p.Q501Q; 13:44574572-44574572 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1987C>A; p.L663I; 13:44574088-44574088 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.377G>C; p.S126T; 13:44575698-44575698 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1747A>C; p.N583H; 13:44574328-44574328 |
pancreas | carcinoma | Substitution - Missense |
c.2373A>G; p.A791A; 13:44573702-44573702 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2757C>A; p.P919P; 13:44573318-44573318 |
stomach | adenocarcinoma | Substitution - coding silent |
c.2713G>A; p.A905T; 13:44573362-44573362 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1215G>A; p.S405S; 13:44574860-44574860 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3220T>C; p.*1074Q; 13:44434628-44434628 |
pancreas | carcinoma; ductal_carcinoma | Nonstop extension |
c.3220T>C; p.*1074Q; 13:44434628-44434628 |
pancreas | carcinoma | Nonstop extension |
c.797G>C; p.G266A; 13:44575278-44575278 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2691C>A; p.F897L; 13:44573384-44573384 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1924C>T; p.P642S; 13:44574151-44574151 |
skin | malignant_melanoma | Substitution - Missense |
c.948T>G; p.V316V; 13:44575127-44575127 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2751G>A; p.A917A; 13:44573324-44573324 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.437C>T; p.T146M; 13:44575638-44575638 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.437C>T; p.T146M; 13:44575638-44575638 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2285C>T; p.S762L; 13:44573790-44573790 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.56C>T; p.A19V; 13:44576019-44576019 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2007C>T; p.S669S; 13:44574068-44574068 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.788C>G; p.S263C; 13:44575287-44575287 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2062C>T; p.Q688*; 13:44574013-44574013 |
breast | carcinoma | Substitution - Nonsense |
c.3053C>T; p.S1018F; 13:44434795-44434795 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.499G>A; p.E167K; 13:44575576-44575576 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1594G>A; p.A532T; 13:44574481-44574481 |
kidney | other; neoplasm | Substitution - Missense |
c.1901C>A; p.P634Q; 13:44574174-44574174 |
skin | malignant_melanoma | Substitution - Missense |
c.2944A>G; p.N982D; 13:44436064-44436064 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.621G>A; p.Q207Q; 13:44575454-44575454 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1954C>T; p.P652S; 13:44574121-44574121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.621G>A; p.Q207Q; 13:44575454-44575454 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.621G>A; p.Q207Q; 13:44575454-44575454 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1521G>T; p.Q507H; 13:44574554-44574554 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.909T>C; p.G303G; 13:44575166-44575166 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.549C>T; p.A183A; 13:44575526-44575526 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.310C>G; p.Q104E; 13:44575765-44575765 |
breast | carcinoma | Substitution - Missense |
c.1454G>T; p.G485V; 13:44574621-44574621 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2472G>T; p.L824F; 13:44573603-44573603 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.2282C>T; p.S761F; 13:44573793-44573793 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2282C>T; p.S761F; 13:44573793-44573793 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.550G>A; p.E184K; 13:44575525-44575525 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.866T>C; p.V289A; 13:44575209-44575209 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2083C>T; p.P695S; 13:44573992-44573992 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.2694C>T; p.S898S; 13:44573381-44573381 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3197C>T; p.S1066L; 13:44434651-44434651 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3014T>C; p.V1005A; 13:44434834-44434834 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.608A>C; p.H203P; 13:44575467-44575467 |
breast | carcinoma | Substitution - Missense |
c.456G>A; p.S152S; 13:44575619-44575619 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2256A>G; p.S752S; 13:44573819-44573819 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.185C>T; p.S62L; 13:44575890-44575890 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2577A>C; p.Q859H; 13:44573498-44573498 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1656A>G; p.Q552Q; 13:44574419-44574419 |
breast | carcinoma; HER-positive_carcinoma | Substitution - coding silent |
c.2962A>G; p.M988V; 13:44436046-44436046 |
breast | carcinoma | Substitution - Missense |
c.2444C>G; p.S815*; 13:44573631-44573631 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2993C>T; p.A998V; 13:44434855-44434855 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1849C>A; p.P617T; 13:44574226-44574226 |
breast | carcinoma | Substitution - Missense |
c.2342C>A; p.A781D; 13:44573733-44573733 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2875_2876CC>TT; p.P959L; 13:44573199-44573200 |
skin | malignant_melanoma | Substitution - Missense |
c.495A>T; p.L165F; 13:44575580-44575580 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2008G>A; p.G670R; 13:44574067-44574067 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1505_1506insGCA; p.Q509_P510insQ; 13:44574569-44574570 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - In frame |
c.2422C>A; p.P808T; 13:44573653-44573653 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1814T>C; p.L605P; 13:44574261-44574261 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2565A>G; p.Q855Q; 13:44573510-44573510 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.481A>G; p.R161G; 13:44575594-44575594 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2821G>A; p.G941R; 13:44573254-44573254 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1693G>A; p.V565I; 13:44574382-44574382 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.782A>C; p.K261T; 13:44575293-44575293 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.778A>G; p.R260G; 13:44575297-44575297 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1684C>T; p.L562F; 13:44574391-44574391 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1684C>T; p.L562F; 13:44574391-44574391 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1172delG; p.G391fs*20; 13:44574903-44574903 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1662G>C; p.L554L; 13:44574413-44574413 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2557C>A; p.P853T; 13:44573518-44573518 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.831T>G; p.T277T; 13:44575244-44575244 |
prostate | carcinoma | Substitution - coding silent |
c.2659G>T; p.A887S; 13:44573416-44573416 |
liver | carcinoma | Substitution - Missense |
c.982G>A; p.V328M; 13:44575093-44575093 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1030C>T; p.P344S; 13:44575045-44575045 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.525G>T; p.E175D; 13:44575550-44575550 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.197C>T; p.P66L; 13:44575878-44575878 |
breast | carcinoma | Substitution - Missense |
c.1531G>A; p.A511T; 13:44574544-44574544 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2970A>G; p.L990L; 13:44434878-44434878 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3076C>G; p.L1026V; 13:44434772-44434772 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1518_1520delACA; p.Q509delQ; 13:44574555-44574557 |
breast | carcinoma | Deletion - In frame |
c.1518_1520delACA; p.Q509delQ; 13:44574555-44574557 |
skin | malignant_melanoma | Deletion - In frame |
c.736A>T; p.S246C; 13:44575339-44575339 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1977G>T; p.Q659H; 13:44574098-44574098 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1249G>C; p.E417Q; 13:44574826-44574826 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.761C>T; p.P254L; 13:44575314-44575314 |
skin | malignant_melanoma | Substitution - Missense |
c.2305C>T; p.Q769*; 13:44573770-44573770 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1221C>T; p.F407F; 13:44574854-44574854 |
breast | carcinoma | Substitution - coding silent |
c.2648A>G; p.N883S; 13:44573427-44573427 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |