General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 8405 |
Name | SPOP |
Synonymous | speckle-type POZ protein;SPOP;speckle-type POZ protein |
Definition | HIB homolog 1|roadkill homolog 1 |
Position | 17q21.33 |
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 0.12. |
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.419A>G; p.D140G; 17:49619042-49619042 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.108G>A; p.W36*; 17:49622038-49622038 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.716A>T; p.N239I; 17:49607371-49607371 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.563A>C; p.D188A; 17:49611375-49611375 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.353-1G>A; p.?; 17:49619109-49619109 |
breast | carcinoma | Unknown |
c.628G>C; p.E210Q; 17:49611310-49611310 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.260A>C; p.Y87S; 17:49619326-49619326 |
prostate | carcinoma | Substitution - Missense |
c.260A>C; p.Y87S; 17:49619326-49619326 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.391T>C; p.W131R; 17:49619070-49619070 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.375T>A; p.F125L; 17:49619086-49619086 |
prostate | carcinoma | Substitution - Missense |
c.597C>A; p.F199L; 17:49611341-49611341 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.570A>C; p.L190F; 17:49611368-49611368 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.311T>C; p.F104S; 17:49619275-49619275 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.224G>T; p.G75V; 17:49619362-49619362 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.583G>T; p.E195*; 17:49611355-49611355 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.712A>G; p.K238E; 17:49607876-49607876 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.667C>T; p.P223S; 17:49607921-49607921 |
skin | malignant_melanoma | Substitution - Missense |
c.391T>G; p.W131G; 17:49619070-49619070 |
prostate | carcinoma | Substitution - Missense |
c.391T>G; p.W131G; 17:49619070-49619070 |
prostate | adenoma | Substitution - Missense |
c.391T>G; p.W131G; 17:49619070-49619070 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.391T>G; p.W131G; 17:49619070-49619070 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.391T>G; p.W131G; 17:49619070-49619070 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.875C>T; p.A292V; 17:49601970-49601970 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.397T>A; p.F133I; 17:49619064-49619064 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.894C>T; p.S298S; 17:49601951-49601951 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.894C>T; p.S298S; 17:49601951-49601951 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.309A>C; p.K103N; 17:49619277-49619277 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.281C>G; p.P94R; 17:49619305-49619305 |
thyroid | carcinoma | Substitution - Missense |
c.240C>G; p.S80R; 17:49619346-49619346 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.393G>T; p.W131C; 17:49619068-49619068 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.208C>T; p.R70*; 17:49619378-49619378 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1107_1108insA; p.R370fs*>6; 17:49600395-49600396 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.581G>T; p.W194L; 17:49611357-49611357 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.260A>G; p.Y87C; 17:49619326-49619326 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.260A>G; p.Y87C; 17:49619326-49619326 |
prostate | carcinoma | Substitution - Missense |
c.260A>G; p.Y87C; 17:49619326-49619326 |
prostate | carcinoma | Substitution - Missense |
c.260A>G; p.Y87C; 17:49619326-49619326 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.413G>C; p.R138P; 17:49619048-49619048 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.148G>A; p.E50K; 17:49621998-49621998 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.148G>A; p.E50K; 17:49621998-49621998 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.148G>A; p.E50K; 17:49621998-49621998 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.28C>A; p.P10T; 17:49622783-49622783 |
breast | carcinoma | Substitution - Missense |
c.397T>G; p.F133V; 17:49619064-49619064 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.397T>G; p.F133V; 17:49619064-49619064 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.397T>G; p.F133V; 17:49619064-49619064 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.397T>G; p.F133V; 17:49619064-49619064 |
prostate | carcinoma | Substitution - Missense |
c.397T>G; p.F133V; 17:49619064-49619064 |
prostate | carcinoma | Substitution - Missense |
c.397T>G; p.F133V; 17:49619064-49619064 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.397T>G; p.F133V; 17:49619064-49619064 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.176C>A; p.S59*; 17:49621970-49621970 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.397T>G; p.F133V; 17:49619064-49619064 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.397T>G; p.F133V; 17:49619064-49619064 |
prostate | carcinoma | Substitution - Missense |
c.397T>G; p.F133V; 17:49619064-49619064 |
prostate | carcinoma | Substitution - Missense |
c.397T>G; p.F133V; 17:49619064-49619064 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.397T>G; p.F133V; 17:49619064-49619064 |
prostate | adenoma | Substitution - Missense |
c.895G>A; p.V299M; 17:49601950-49601950 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.232G>A; p.E78K; 17:49619354-49619354 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.209G>A; p.R70Q; 17:49619377-49619377 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.538A>G; p.K180E; 17:49611400-49611400 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.259T>A; p.Y87N; 17:49619327-49619327 |
prostate | carcinoma | Substitution - Missense |
c.259T>A; p.Y87N; 17:49619327-49619327 |
prostate | carcinoma | Substitution - Missense |
c.431A>G; p.D144G; 17:49619030-49619030 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.223G>A; p.G75R; 17:49619363-49619363 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.431A>G; p.D144G; 17:49619030-49619030 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.431A>G; p.D144G; 17:49619030-49619030 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.837G>C; p.K279N; 17:49607250-49607250 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.424C>A; p.L142I; 17:49619037-49619037 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.181G>A; p.A61T; 17:49621965-49621965 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.22C>T; p.P8S; 17:49622789-49622789 |
skin | malignant_melanoma | Substitution - Missense |
c.830C>T; p.A277V; 17:49607257-49607257 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1103G>A; p.R368H; 17:49600400-49600400 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.164C>G; p.S55C; 17:49621982-49621982 |
breast | carcinoma | Substitution - Missense |
c.398T>G; p.F133C; 17:49619063-49619063 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>G; p.F133C; 17:49619063-49619063 |
prostate | carcinoma | Substitution - Missense |
c.398T>G; p.F133C; 17:49619063-49619063 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>G; p.F133C; 17:49619063-49619063 |
prostate | carcinoma | Substitution - Missense |
c.138G>T; p.E46D; 17:49622008-49622008 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.402G>C; p.K134N; 17:49619059-49619059 |
prostate | carcinoma | Substitution - Missense |
c.41C>T; p.S14L; 17:49622770-49622770 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.601G>C; p.D201H; 17:49611337-49611337 |
breast | carcinoma | Substitution - Missense |
c.1061G>A; p.R354H; 17:49600442-49600442 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.506A>G; p.N169S; 17:49611432-49611432 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.24A>G; p.P8P; 17:49622787-49622787 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.295C>T; p.R99W; 17:49619291-49619291 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.745G>T; p.E249*; 17:49607342-49607342 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.388G>A; p.D130N; 17:49619073-49619073 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.745G>T; p.E249*; 17:49607342-49607342 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.392G>C; p.W131S; 17:49619069-49619069 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.408C>G; p.F136L; 17:49619053-49619053 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.418G>A; p.D140N; 17:49619043-49619043 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.418G>A; p.D140N; 17:49619043-49619043 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.418G>A; p.D140N; 17:49619043-49619043 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.173C>T; p.S58L; 17:49621973-49621973 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.364_366delGCA; p.A122delA; 17:49619095-49619097 |
prostate | carcinoma | Deletion - In frame |
c.742C>T; p.P248S; 17:49607345-49607345 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.399C>G; p.F133L; 17:49619062-49619062 |
prostate | carcinoma | Substitution - Missense |
c.399C>G; p.F133L; 17:49619062-49619062 |
prostate | carcinoma | Substitution - Missense |
c.399C>G; p.F133L; 17:49619062-49619062 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.399C>G; p.F133L; 17:49619062-49619062 |
prostate | carcinoma | Substitution - Missense |
c.399C>G; p.F133L; 17:49619062-49619062 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.399C>G; p.F133L; 17:49619062-49619062 |
prostate | adenoma | Substitution - Missense |
c.399C>G; p.F133L; 17:49619062-49619062 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.845T>G; p.L282R; 17:49602000-49602000 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.399C>G; p.F133L; 17:49619062-49619062 |
prostate | carcinoma | Substitution - Missense |
c.399C>G; p.F133L; 17:49619062-49619062 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.399C>G; p.F133L; 17:49619062-49619062 |
prostate | adenoma | Substitution - Missense |
c.139G>A; p.E47K; 17:49622007-49622007 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.139G>A; p.E47K; 17:49622007-49622007 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.373T>G; p.F125V; 17:49619088-49619088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.373T>G; p.F125V; 17:49619088-49619088 |
prostate | carcinoma | Substitution - Missense |
c.223_224GG>TT; p.G75L; 17:49619362-49619363 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.399C>A; p.F133L; 17:49619062-49619062 |
prostate | carcinoma | Substitution - Missense |
c.399C>A; p.F133L; 17:49619062-49619062 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.399C>A; p.F133L; 17:49619062-49619062 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.399C>A; p.F133L; 17:49619062-49619062 |
prostate | carcinoma | Substitution - Missense |
c.399C>A; p.F133L; 17:49619062-49619062 |
prostate | carcinoma | Substitution - Missense |
c.304T>G; p.F102V; 17:49619282-49619282 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.304T>G; p.F102V; 17:49619282-49619282 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.536T>G; p.V179G; 17:49611402-49611402 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.362G>A; p.R121Q; 17:49619099-49619099 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.362G>A; p.R121Q; 17:49619099-49619099 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.362G>A; p.R121Q; 17:49619099-49619099 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.362G>A; p.R121Q; 17:49619099-49619099 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.362G>A; p.R121Q; 17:49619099-49619099 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.412C>T; p.R138C; 17:49619049-49619049 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.424C>T; p.L142F; 17:49619037-49619037 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1080G>T; p.Q360H; 17:49600423-49600423 |
meninges | meningioma; secretory | Substitution - Missense |
c.136G>A; p.E46K; 17:49622010-49622010 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.356G>A; p.S119N; 17:49619105-49619105 |
prostate | carcinoma | Substitution - Missense |
c.273C>T; p.V91V; 17:49619313-49619313 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.718C>T; p.R240*; 17:49607369-49607369 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.273C>T; p.V91V; 17:49619313-49619313 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.771C>T; p.F257F; 17:49607316-49607316 |
skin | malignant_melanoma | Substitution - coding silent |
c.661C>T; p.R221C; 17:49607927-49607927 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.305T>G; p.F102C; 17:49619281-49619281 |
prostate | adenoma | Substitution - Missense |
c.280C>G; p.P94A; 17:49619306-49619306 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.305T>G; p.F102C; 17:49619281-49619281 |
prostate | carcinoma | Substitution - Missense |
c.305T>G; p.F102C; 17:49619281-49619281 |
prostate | carcinoma | Substitution - Missense |
c.25_26CC>TT; p.P9F; 17:49622785-49622786 |
skin | malignant_melanoma | Substitution - Missense |
c.305T>G; p.F102C; 17:49619281-49619281 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.406T>C; p.F136L; 17:49619055-49619055 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.700G>A; p.E234K; 17:49607888-49607888 |
pancreas | carcinoma | Substitution - Missense |
c.680C>T; p.A227V; 17:49607908-49607908 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>C; p.F133S; 17:49619063-49619063 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.397T>C; p.F133L; 17:49619064-49619064 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>C; p.F133S; 17:49619063-49619063 |
prostate | carcinoma | Substitution - Missense |
c.398T>C; p.F133S; 17:49619063-49619063 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>C; p.F133S; 17:49619063-49619063 |
prostate | adenoma | Substitution - Missense |
c.398T>C; p.F133S; 17:49619063-49619063 |
prostate | carcinoma | Substitution - Missense |
c.398T>C; p.F133S; 17:49619063-49619063 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.398T>C; p.F133S; 17:49619063-49619063 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.133C>T; p.R45W; 17:49622013-49622013 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.349A>G; p.M117V; 17:49619237-49619237 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.79-1G>T; p.?; 17:49622068-49622068 |
urinary_tract; bladder | carcinoma | Unknown |
c.310T>A; p.F104I; 17:49619276-49619276 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.349A>G; p.M117V; 17:49619237-49619237 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.140A>C; p.E47A; 17:49622006-49622006 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.385A>G; p.K129E; 17:49619076-49619076 |
prostate | carcinoma | Substitution - Missense |
c.904G>A; p.A302T; 17:49601941-49601941 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.998_999insT; p.L333fs*19; 17:49600504-49600505 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |