Entrez Gene

Basic Information
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 (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
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

COSMIC somatic mutation [Top]