| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7248 |
Name | TSC1 |
Synonymous | LAM|TSC;tuberous sclerosis 1;TSC1;tuberous sclerosis 1 |
Definition | hamartin|tuberous sclerosis 1 protein|tumor suppressor |
Position | 9q34 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for TSC1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
TSC1_E1120D; chr9; 135771757 |
SUB; MISSENSE; T; T/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
TSC1_S403S; chr9; 135786012 |
SUB; SILENT; C; C/T; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.560T>G; p.L187R; |
liver | carcinoma; hepatocellular_carcinoma |
c.1181C>A; p.S394Y; |
large_intestine | carcinoma; adenocarcinoma |
c.193C>G; p.Q65E; |
lung | carcinoma; adenocarcinoma |
c.140A>G; p.D47G; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.1768C>T; p.P590S; 9:134771018-134771018 |
lung | carcinoma; adenocarcinoma |
c.373G>T; p.D125Y; |
liver | carcinoma; hepatocellular_carcinoma |
c.611G>T; p.R204L; 9:134787079-134787079 |
lung | carcinoma; adenocarcinoma |
c.203A>G; p.H68R; 9:134792416-134792416 |
urinary_tract | carcinoma |
c.1041G>A; p.W347*; 9:134776310-134776310 |
urinary_tract | carcinoma |
c.1727_1748>G; p.L576_P583>C; 9:134771038-134771059 |
urinary_tract | carcinoma |
c.2625+1G>A; p.?; 9:134765922-134765922 |
urinary_tract | carcinoma |
c.1669delC; p.L557fs*72; 9:134771117-134771117 |
urinary_tract | carcinoma |
c.2875G>T; p.E959*; 9:134762492-134762492 |
central_nervous_system; cerebral_cortex | other; tuberous_sclerosis_tuber |
c.492_492delG; p.W164fs*3; 9:134788572-134788572 |
urinary_tract | carcinoma |
c.163C>T; p.Q55*; 9:134792456-134792456 |
urinary_tract | carcinoma |
c.2111_2112delAT; p.Y704fs*1; 9:134768955-134768956 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.132_133insC; p.V46fs*24; 9:134792486-134792487 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.235T>C; p.Y79H; 9:134790923-134790923 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.569_569delG; p.R190fs*20; 9:134787121-134787121 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.663+1G>A; p.fs*?; 9:134787026-134787026 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.1907_1908delAG; p.E636fs*51; 9:134770878-134770879 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.?; p.Q694*; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.?; p.R509*; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.?; p.V220F; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.?; p.R692*; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.2356C>T; p.R786*; |
liver | carcinoma; hepatocellular_carcinoma |
c.?; p.Q55*; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.?; p.Y185*; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.?; p.C401fs*4; 9:134775840-134775841 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.?; p.Q527*; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.?; p.L536fs*11; 9:134771179-134771180 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.1_3495del3495; p.0?; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.?; p.Q748fs*25; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.786C>T; p.I262I; |
NS | malignant_melanoma |
c.459T>C; p.D153D; |
NS | malignant_melanoma |
c.786C>T; p.I262I; |
NS | malignant_melanoma |
c.459T>C; p.D153D; |
NS | malignant_melanoma |
c.1546C>T; p.Q516*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3289C>T; p.R1097C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.169G>A; p.A57T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1382G>A; p.G461E; |
skin; abdomen | malignant_melanoma |
c.853T>G; p.F285V; 9:134777550-134777550 |
urinary_tract | carcinoma |
c.1849C>G; p.H617D; 9:134770937-134770937 |
urinary_tract | carcinoma |
c.561C>G; p.L187L; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.2459_2460insA; p.V821fs*5; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2074C>T; p.R692*; 9:134768993-134768993 |
urinary_tract | carcinoma |
c.2590G>T; p.E864*; |
liver | carcinoma |
c.2502+5G>C; p.?; |
liver | carcinoma |
c.2686C>G; p.L896V; |
oesophagus | carcinoma; adenocarcinoma |
c.3140C>T; p.T1047I; |
lung | carcinoma; adenocarcinoma |
c.2074C>T; p.R692*; 9:134768993-134768993 |
liver | carcinoma |
c.2117G>A; p.R706H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.683G>A; p.R228Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.57G>A; p.L19L; |
liver | carcinoma |
c.163C>T; p.Q55*; 9:134792456-134792456 |
urinary_tract | carcinoma |
c.733C>T; p.R245*; |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma |
c.733C>T; p.R245*; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1518C>G; p.P506P; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1196delC; p.P399fs*41; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.721G>T; p.E241*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.363+1G>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3086G>A; p.S1029N; |
lung | carcinoma; adenocarcinoma |
c.2793G>C; p.E931D; |
lung | carcinoma; adenocarcinoma |
c.590G>T; p.C197F; |
lung | carcinoma; adenocarcinoma |
c.1718G>TT; p.R573fs*11; 12:111813134-111813134 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; large_cell |
c.1264-1G>A; p.?; |
skin; extremity | malignant_melanoma |
c.2626-2A>T; p.?; |
meninges | meningioma |
c.1067C>T; p.T356I; |
autonomic_ganglia | neuroblastoma |
c.3280G>T; p.E1094*; |
salivary_gland | carcinoma; adenoid_cystic_carcinoma |
c.2018C>T; p.S673F; |
NS | NS |
c.663+1G>A; p.fs*?; 9:134787026-134787026 |
bone | chondrosarcoma |
c.555C>T; p.Y185Y; |
prostate | carcinoma |
c.1258_1259insA; p.R420fs*22; |
liver | carcinoma |
c.1669delC; p.L557fs*72; 9:134771117-134771117 |
urinary_tract | carcinoma |
c.2831C>T; p.A944V; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.211-2A>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1342C>T; p.P448S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3409G>A; p.G1137S; |
autonomic_ganglia | neuroblastoma |
c.3128G>A; p.S1043N; 9:134761810-134761810 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1587C>T; p.A529A; |
ovary | carcinoma; serous_carcinoma |
c.1040G>T; p.W347L; |
lung | carcinoma; adenocarcinoma |
c.2497C>A; p.Q833K; |
lung | carcinoma; adenocarcinoma |
c.36C>A; p.A12A; 9:134794045-134794045 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2162_2172del11; p.R721fs*9; |
ovary | carcinoma; serous_carcinoma |
c.2244G>A; p.Q748Q; 9:134767960-134767960 |
ovary | carcinoma; serous_carcinoma |
c.2904G>T; p.R968S; |
lung | carcinoma; squamous_cell_carcinoma |
c.532G>C; p.V178L; |
lung | carcinoma; adenocarcinoma |
c.3080G>A; p.R1027Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.1584_1585CG>TT; p.A529S; |
lung | carcinoma; adenocarcinoma |
c.2380C>T; p.Q794*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2010C>A; p.P670P; |
ovary | carcinoma; serous_carcinoma |
c.2411_2412GG>CA; p.R804T; |
ovary | carcinoma; serous_carcinoma |
c.1743C>T; p.F581F; |
lung | carcinoma; adenocarcinoma |
c.47C>G; p.S16C; |
lung | carcinoma; squamous_cell_carcinoma |
c.520G>T; p.E174*; |
lung | carcinoma; adenocarcinoma |
c.733C>A; p.R245R; |
lung | carcinoma; squamous_cell_carcinoma |
c.3322G>C; p.G1108R; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1224C>A; p.H408Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1974C>T; p.D658D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.612T>C; p.R204R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3124_3129delAGCAGC; p.S1042_S1043delSS; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2420T>G; p.I807S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1257delC; p.R420fs*20; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.737G>T; p.R246M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2115G>A; p.E705E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2830G>A; p.A944T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.231C>T; p.N77N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.421C>T; p.P141S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.215T>G; p.L72R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1366C>T; p.L456L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2055A>G; p.S685S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.608delT; p.L203fs*7; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3428C>T; p.P1143L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2901C>T; p.G967G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3184C>T; p.R1062W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3289C>T; p.R1097C; |
breast | carcinoma |
c.1586C>T; p.A529V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.494G>A; p.C165Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1244C>T; p.T415I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3209C>T; p.A1070V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2367C>T; p.F789F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.610C>T; p.R204C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3127A>G; p.S1043G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.569G>A; p.R190H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.36C>A; p.A12A; 9:134794045-134794045 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2311A>G; p.M771V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3215C>T; p.A1072V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1859T>C; p.V620A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.617A>G; p.H206R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.386T>A; p.L129H; |
breast | carcinoma |
c.519G>A; p.A173A; |
breast | carcinoma |
c.786C>A; p.I262I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1082C>A; p.S361Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1607T>A; p.L536*; |
urinary_tract; bladder | carcinoma |
c.2858G>A; p.R953K; |
breast | carcinoma |
c.2883G>A; p.E961E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.982C>T; p.Q328*; |
urinary_tract; bladder | carcinoma |
c.569G>C; p.R190P; |
urinary_tract; bladder | carcinoma |
c.1769C>A; p.P590H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1257delC; p.R420fs*20; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3321C>T; p.D1107D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1976C>T; p.A659V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.185C>G; p.T62S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2116C>T; p.R706C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.140A>G; p.D47G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3180C>T; p.S1060S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1431A>C; p.K477N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3127_3129delAGC; p.S1043delS; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2391+1G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1668C>A; p.D556E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3127A>G; p.S1043G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.492G>A; p.W164*; 9:134788572-134788572 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1770T>A; p.P590P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3061C>T; p.P1021S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1546C>T; p.Q516*; |
urinary_tract; bladder | carcinoma |
c.1976C>T; p.A659V; |
prostate | carcinoma; adenocarcinoma |
c.2843A>T; p.Y948F; |
breast | carcinoma |
c.2612C>G; p.S871*; |
urinary_tract; bladder | carcinoma |
c.1084_1086delCCT; p.P362delP; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2209-1G>C; p.?; |
urinary_tract; bladder | carcinoma |
c.1269G>C; p.E423D; |
stomach | carcinoma; intestinal_adenocarcinoma |
c.1805C>T; p.P602L; |
skin | malignant_melanoma |
c.1403C>T; p.S468F; |
skin | malignant_melanoma |
c.2391+2T>G; p.?; |
skin | malignant_melanoma |
c.541C>T; p.H181Y; |
skin | malignant_melanoma |
c.263C>T; p.S88F; |
skin; mucosal | malignant_melanoma |
c.737G>T; p.R246M; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |