Entrez Gene

Basic Information
Gene ID	30009
Name	TBX21
Synonymous	T-box 21;TBX21;T-box 21
Definition	T-box expressed in T cells\|T-box protein 21\|T-box transcription factor TBX21\|T-cell-specific T-box transcription factor T-bet\|transcription factor TBLYM
Position	17q21.32
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1053G>A; p.G351G; 17:47744811-47744811	breast	carcinoma	Substitution - coding silent
c.901G>A; p.A301T; 17:47744327-47744327	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1186G>A; p.E396K; 17:47744944-47744944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1388C>T; p.S463L; 17:47745146-47745146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1083C>T; p.N361N; 17:47744841-47744841	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1421C>T; p.P474L; 17:47745179-47745179	NS	malignant_melanoma	Substitution - Missense
c.604G>A; p.G202S; 17:47742722-47742722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1074C>T; p.L358L; 17:47744832-47744832	skin	malignant_melanoma	Substitution - coding silent
c.1210A>C; p.M404L; 17:47744968-47744968	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1201G>T; p.A401S; 17:47744959-47744959	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.968G>A; p.G323E; 17:47744522-47744522	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1461C>T; p.S487S; 17:47745219-47745219	skin	malignant_melanoma	Substitution - coding silent
c.749C>A; p.A250E; 17:47743173-47743173	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1382G>T; p.G461V; 17:47745140-47745140	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1397G>A; p.R466Q; 17:47745155-47745155	skin	malignant_melanoma	Substitution - Missense
c.1394G>A; p.G465E; 17:47745152-47745152	skin	malignant_melanoma	Substitution - Missense
c.1397G>A; p.R466Q; 17:47745155-47745155	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.390A>G; p.G130G; 17:47733844-47733844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.390A>G; p.G130G; 17:47733844-47733844	breast	carcinoma	Substitution - coding silent
c.390A>G; p.G130G; 17:47733844-47733844	thyroid	other; neoplasm	Substitution - coding silent
c.390A>G; p.G130G; 17:47733844-47733844	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.794A>G; p.K265R; 17:47744220-47744220	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.855C>T; p.N285N; 17:47744281-47744281	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.383C>T; p.P128L; 17:47733837-47733837	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.592C>T; p.R198W; 17:47742710-47742710	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1450C>T; p.R484W; 17:47745208-47745208	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1237C>T; p.P413S; 17:47744995-47744995	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.700C>T; p.R234C; 17:47743124-47743124	skin	malignant_melanoma	Substitution - Missense
c.1041T>C; p.C347C; 17:47744799-47744799	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1494G>C; p.K498N; 17:47745252-47745252	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.966A>T; p.K322N; 17:47744520-47744520	pancreas	carcinoma	Substitution - Missense
c.966A>T; p.K322N; 17:47744520-47744520	pancreas	carcinoma	Substitution - Missense
c.966A>T; p.K322N; 17:47744520-47744520	pancreas	carcinoma	Substitution - Missense
c.966A>T; p.K322N; 17:47744520-47744520	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1480G>A; p.E494K; 17:47745238-47745238	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.543C>T; p.S181S; 17:47742661-47742661	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.543C>T; p.S181S; 17:47742661-47742661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1566T>C; p.D522D; 17:47745324-47745324	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1163G>A; p.G388E; 17:47744921-47744921	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.758A>T; p.N253I; 17:47743182-47743182	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1253C>T; p.S418F; 17:47745011-47745011	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1501C>A; p.R501S; 17:47745259-47745259	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1070C>A; p.P357H; 17:47744828-47744828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1332G>A; p.P444P; 17:47745090-47745090	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1130C>T; p.A377V; 17:47744888-47744888	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.413G>T; p.R138M; 17:47733867-47733867	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.362C>G; p.P121R; 17:47733816-47733816	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1262G>A; p.R421Q; 17:47745020-47745020	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1455G>A; p.P485P; 17:47745213-47745213	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1455G>A; p.P485P; 17:47745213-47745213	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1161delG; p.A389fs*16; 17:47744919-47744919	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1484G>T; p.G495V; 17:47745242-47745242	liver	carcinoma	Substitution - Missense
c.1484G>T; p.G495V; 17:47745242-47745242	liver	carcinoma	Substitution - Missense
c.978G>T; p.E326D; 17:47744532-47744532	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1017C>A; p.I339I; 17:47744775-47744775	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.689C>T; p.A230V; 17:47743113-47743113	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1559C>T; p.P520L; 17:47745317-47745317	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.706G>A; p.E236K; 17:47743130-47743130	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.706G>A; p.E236K; 17:47743130-47743130	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1559C>T; p.P520L; 17:47745317-47745317	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.713C>T; p.S238L; 17:47743137-47743137	skin	malignant_melanoma	Substitution - Missense
c.713C>T; p.S238L; 17:47743137-47743137	skin	malignant_melanoma	Substitution - Missense
c.570C>T; p.V190V; 17:47742688-47742688	breast	carcinoma	Substitution - coding silent
c.677C>G; p.P226R; 17:47743101-47743101	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.928-1G>T; p.?; 17:47744481-47744481	lung	carcinoma; adenocarcinoma	Unknown
c.1102C>A; p.R368S; 17:47744860-47744860	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1502G>A; p.R501H; 17:47745260-47745260	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.461A>T; p.Q154L; 17:47733915-47733915	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1502G>A; p.R501H; 17:47745260-47745260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.656T>C; p.L219P; 17:47743080-47743080	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.377_378CG>TT; p.A126V; 17:47733831-47733832	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.487G>A; p.G163R; 17:47733941-47733941	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1269G>T; p.Q423H; 17:47745027-47745027	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.492G>A; p.R164R; 17:47742610-47742610	skin; leg	malignant_melanoma; nodular	Substitution - coding silent
c.828C>T; p.N276N; 17:47744254-47744254	pancreas	carcinoma	Substitution - coding silent
c.828C>T; p.N276N; 17:47744254-47744254	pancreas	carcinoma	Substitution - coding silent
c.951T>C; p.N317N; 17:47744505-47744505	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.902C>T; p.A301V; 17:47744328-47744328	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.833G>T; p.G278V; 17:47744259-47744259	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.340C>T; p.R114C; 17:47733794-47733794	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.340C>T; p.R114C; 17:47733794-47733794	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.507C>G; p.F169L; 17:47742625-47742625	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.340C>T; p.R114C; 17:47733794-47733794	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1344C>A; p.F448L; 17:47745102-47745102	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.690G>A; p.A230A; 17:47743114-47743114	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1479C>T; p.G493G; 17:47745237-47745237	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1154A>G; p.Y385C; 17:47744912-47744912	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.1364C>T; p.P455L; 17:47745122-47745122	skin	malignant_melanoma	Substitution - Missense
c.849C>A; p.A283A; 17:47744275-47744275	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.791A>G; p.H264R; 17:47744217-47744217	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.324C>T; p.Y108Y; 17:47733778-47733778	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.976G>A; p.E326K; 17:47744530-47744530	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.662T>A; p.V221D; 17:47743086-47743086	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1454C>T; p.P485L; 17:47745212-47745212	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1131G>A; p.A377A; 17:47744889-47744889	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1150G>T; p.A384S; 17:47744908-47744908	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1088A>T; p.Y363F; 17:47744846-47744846	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1441G>T; p.A481S; 17:47745199-47745199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1229_1230insA; p.S411fs*69; 17:47744987-47744988	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - Frameshift
c.1345C>T; p.R449C; 17:47745103-47745103	skin	malignant_melanoma	Substitution - Missense
c.1564_1565GA>TT; p.D522F; 17:47745322-47745323	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1554T>G; p.P518P; 17:47745312-47745312	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.414G>T; p.R138S; 17:47733868-47733868	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.414G>T; p.R138S; 17:47733868-47733868	large_intestine; colon	carcinoma	Substitution - Missense
c.414G>T; p.R138S; 17:47733868-47733868	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1503C>T; p.R501R; 17:47745261-47745261	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.387G>A; p.A129A; 17:47733841-47733841	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1532G>T; p.S511I; 17:47745290-47745290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.538A>C; p.T180P; 17:47742656-47742656	thyroid	other; neoplasm	Substitution - Missense
c.538A>C; p.T180P; 17:47742656-47742656	thyroid	other; neoplasm	Substitution - Missense
c.538A>C; p.T180P; 17:47742656-47742656	thyroid	other; neoplasm	Substitution - Missense
c.538A>C; p.T180P; 17:47742656-47742656	thyroid	other; neoplasm	Substitution - Missense
c.538A>C; p.T180P; 17:47742656-47742656	thyroid	other; neoplasm	Substitution - Missense
c.1152T>C; p.A384A; 17:47744910-47744910	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.816C>T; p.I272I; 17:47744242-47744242	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1352T>G; p.M451R; 17:47745110-47745110	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1377C>A; p.G459G; 17:47745135-47745135	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1198C>T; p.R400*; 17:47744956-47744956	skin	malignant_melanoma	Substitution - Nonsense
c.1198C>T; p.R400*; 17:47744956-47744956	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1198C>T; p.R400*; 17:47744956-47744956	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense

COSMIC somatic mutation [Top]