Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
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

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
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 groups: 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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.108G>A; p.W36*; 17:49622038-49622038

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.716A>T; p.N239I; 17:49607371-49607371

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.563A>C; p.D188A; 17:49611375-49611375

central_nervous_system; braingliomaSubstitution - Missense

c.353-1G>A; p.?; 17:49619109-49619109

breastcarcinomaUnknown

c.628G>C; p.E210Q; 17:49611310-49611310

urinary_tract; bladdercarcinomaSubstitution - Missense

c.260A>C; p.Y87S; 17:49619326-49619326

prostatecarcinomaSubstitution - Missense

c.260A>C; p.Y87S; 17:49619326-49619326

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.391T>C; p.W131R; 17:49619070-49619070

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.375T>A; p.F125L; 17:49619086-49619086

prostatecarcinomaSubstitution - Missense

c.597C>A; p.F199L; 17:49611341-49611341

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.570A>C; p.L190F; 17:49611368-49611368

lungcarcinoma; undifferentiated_carcinomaSubstitution - Missense

c.311T>C; p.F104S; 17:49619275-49619275

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.224G>T; p.G75V; 17:49619362-49619362

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.583G>T; p.E195*; 17:49611355-49611355

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.712A>G; p.K238E; 17:49607876-49607876

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.667C>T; p.P223S; 17:49607921-49607921

skinmalignant_melanomaSubstitution - Missense

c.391T>G; p.W131G; 17:49619070-49619070

prostatecarcinomaSubstitution - Missense

c.391T>G; p.W131G; 17:49619070-49619070

prostateadenomaSubstitution - Missense

c.391T>G; p.W131G; 17:49619070-49619070

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.391T>G; p.W131G; 17:49619070-49619070

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.391T>G; p.W131G; 17:49619070-49619070

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.875C>T; p.A292V; 17:49601970-49601970

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.397T>A; p.F133I; 17:49619064-49619064

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.894C>T; p.S298S; 17:49601951-49601951

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.894C>T; p.S298S; 17:49601951-49601951

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.309A>C; p.K103N; 17:49619277-49619277

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.281C>G; p.P94R; 17:49619305-49619305

thyroidcarcinomaSubstitution - Missense

c.240C>G; p.S80R; 17:49619346-49619346

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.393G>T; p.W131C; 17:49619068-49619068

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.208C>T; p.R70*; 17:49619378-49619378

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1107_1108insA; p.R370fs*>6; 17:49600395-49600396

endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.581G>T; p.W194L; 17:49611357-49611357

central_nervous_system; braingliomaSubstitution - Missense

c.260A>G; p.Y87C; 17:49619326-49619326

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.260A>G; p.Y87C; 17:49619326-49619326

prostatecarcinomaSubstitution - Missense

c.260A>G; p.Y87C; 17:49619326-49619326

prostatecarcinomaSubstitution - Missense

c.260A>G; p.Y87C; 17:49619326-49619326

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.413G>C; p.R138P; 17:49619048-49619048

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.148G>A; p.E50K; 17:49621998-49621998

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.148G>A; p.E50K; 17:49621998-49621998

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.148G>A; p.E50K; 17:49621998-49621998

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.28C>A; p.P10T; 17:49622783-49622783

breastcarcinomaSubstitution - Missense

c.397T>G; p.F133V; 17:49619064-49619064

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.397T>G; p.F133V; 17:49619064-49619064

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.397T>G; p.F133V; 17:49619064-49619064

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.397T>G; p.F133V; 17:49619064-49619064

prostatecarcinomaSubstitution - Missense

c.397T>G; p.F133V; 17:49619064-49619064

prostatecarcinomaSubstitution - Missense

c.397T>G; p.F133V; 17:49619064-49619064

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.397T>G; p.F133V; 17:49619064-49619064

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.176C>A; p.S59*; 17:49621970-49621970

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.397T>G; p.F133V; 17:49619064-49619064

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.397T>G; p.F133V; 17:49619064-49619064

prostatecarcinomaSubstitution - Missense

c.397T>G; p.F133V; 17:49619064-49619064

prostatecarcinomaSubstitution - Missense

c.397T>G; p.F133V; 17:49619064-49619064

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.397T>G; p.F133V; 17:49619064-49619064

prostateadenomaSubstitution - Missense

c.895G>A; p.V299M; 17:49601950-49601950

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.232G>A; p.E78K; 17:49619354-49619354

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.209G>A; p.R70Q; 17:49619377-49619377

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.538A>G; p.K180E; 17:49611400-49611400

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.259T>A; p.Y87N; 17:49619327-49619327

prostatecarcinomaSubstitution - Missense

c.259T>A; p.Y87N; 17:49619327-49619327

prostatecarcinomaSubstitution - Missense

c.431A>G; p.D144G; 17:49619030-49619030

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.223G>A; p.G75R; 17:49619363-49619363

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.431A>G; p.D144G; 17:49619030-49619030

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.431A>G; p.D144G; 17:49619030-49619030

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.837G>C; p.K279N; 17:49607250-49607250

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.424C>A; p.L142I; 17:49619037-49619037

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.181G>A; p.A61T; 17:49621965-49621965

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.22C>T; p.P8S; 17:49622789-49622789

skinmalignant_melanomaSubstitution - Missense

c.830C>T; p.A277V; 17:49607257-49607257

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1103G>A; p.R368H; 17:49600400-49600400

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.164C>G; p.S55C; 17:49621982-49621982

breastcarcinomaSubstitution - Missense

c.398T>G; p.F133C; 17:49619063-49619063

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.398T>G; p.F133C; 17:49619063-49619063

prostatecarcinomaSubstitution - Missense

c.398T>G; p.F133C; 17:49619063-49619063

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.398T>G; p.F133C; 17:49619063-49619063

prostatecarcinomaSubstitution - Missense

c.138G>T; p.E46D; 17:49622008-49622008

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.402G>C; p.K134N; 17:49619059-49619059

prostatecarcinomaSubstitution - Missense

c.41C>T; p.S14L; 17:49622770-49622770

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.601G>C; p.D201H; 17:49611337-49611337

breastcarcinomaSubstitution - Missense

c.1061G>A; p.R354H; 17:49600442-49600442

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.506A>G; p.N169S; 17:49611432-49611432

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.24A>G; p.P8P; 17:49622787-49622787

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.295C>T; p.R99W; 17:49619291-49619291

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.745G>T; p.E249*; 17:49607342-49607342

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.388G>A; p.D130N; 17:49619073-49619073

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.745G>T; p.E249*; 17:49607342-49607342

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.392G>C; p.W131S; 17:49619069-49619069

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.408C>G; p.F136L; 17:49619053-49619053

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.418G>A; p.D140N; 17:49619043-49619043

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.418G>A; p.D140N; 17:49619043-49619043

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.418G>A; p.D140N; 17:49619043-49619043

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.173C>T; p.S58L; 17:49621973-49621973

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.364_366delGCA; p.A122delA; 17:49619095-49619097

prostatecarcinomaDeletion - In frame

c.742C>T; p.P248S; 17:49607345-49607345

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.399C>G; p.F133L; 17:49619062-49619062

prostatecarcinomaSubstitution - Missense

c.399C>G; p.F133L; 17:49619062-49619062

prostatecarcinomaSubstitution - Missense

c.399C>G; p.F133L; 17:49619062-49619062

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.399C>G; p.F133L; 17:49619062-49619062

prostatecarcinomaSubstitution - Missense

c.399C>G; p.F133L; 17:49619062-49619062

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.399C>G; p.F133L; 17:49619062-49619062

prostateadenomaSubstitution - Missense

c.399C>G; p.F133L; 17:49619062-49619062

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.845T>G; p.L282R; 17:49602000-49602000

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.399C>G; p.F133L; 17:49619062-49619062

prostatecarcinomaSubstitution - Missense

c.399C>G; p.F133L; 17:49619062-49619062

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.399C>G; p.F133L; 17:49619062-49619062

prostateadenomaSubstitution - Missense

c.139G>A; p.E47K; 17:49622007-49622007

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.139G>A; p.E47K; 17:49622007-49622007

ovarycarcinoma; clear_cell_carcinomaSubstitution - Missense

c.373T>G; p.F125V; 17:49619088-49619088

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.373T>G; p.F125V; 17:49619088-49619088

prostatecarcinomaSubstitution - Missense

c.223_224GG>TT; p.G75L; 17:49619362-49619363

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.399C>A; p.F133L; 17:49619062-49619062

prostatecarcinomaSubstitution - Missense

c.399C>A; p.F133L; 17:49619062-49619062

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.399C>A; p.F133L; 17:49619062-49619062

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.399C>A; p.F133L; 17:49619062-49619062

prostatecarcinomaSubstitution - Missense

c.399C>A; p.F133L; 17:49619062-49619062

prostatecarcinomaSubstitution - Missense

c.304T>G; p.F102V; 17:49619282-49619282

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.304T>G; p.F102V; 17:49619282-49619282

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.536T>G; p.V179G; 17:49611402-49611402

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.362G>A; p.R121Q; 17:49619099-49619099

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.362G>A; p.R121Q; 17:49619099-49619099

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.362G>A; p.R121Q; 17:49619099-49619099

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.362G>A; p.R121Q; 17:49619099-49619099

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.362G>A; p.R121Q; 17:49619099-49619099

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.412C>T; p.R138C; 17:49619049-49619049

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.424C>T; p.L142F; 17:49619037-49619037

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1080G>T; p.Q360H; 17:49600423-49600423

meningesmeningioma; secretorySubstitution - Missense

c.136G>A; p.E46K; 17:49622010-49622010

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.356G>A; p.S119N; 17:49619105-49619105

prostatecarcinomaSubstitution - Missense

c.273C>T; p.V91V; 17:49619313-49619313

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.718C>T; p.R240*; 17:49607369-49607369

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.273C>T; p.V91V; 17:49619313-49619313

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.771C>T; p.F257F; 17:49607316-49607316

skinmalignant_melanomaSubstitution - coding silent

c.661C>T; p.R221C; 17:49607927-49607927

skin; mucosalmalignant_melanomaSubstitution - Missense

c.305T>G; p.F102C; 17:49619281-49619281

prostateadenomaSubstitution - Missense

c.280C>G; p.P94A; 17:49619306-49619306

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.305T>G; p.F102C; 17:49619281-49619281

prostatecarcinomaSubstitution - Missense

c.305T>G; p.F102C; 17:49619281-49619281

prostatecarcinomaSubstitution - Missense

c.25_26CC>TT; p.P9F; 17:49622785-49622786

skinmalignant_melanomaSubstitution - Missense

c.305T>G; p.F102C; 17:49619281-49619281

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.406T>C; p.F136L; 17:49619055-49619055

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.700G>A; p.E234K; 17:49607888-49607888

pancreascarcinomaSubstitution - Missense

c.680C>T; p.A227V; 17:49607908-49607908

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.398T>C; p.F133S; 17:49619063-49619063

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.397T>C; p.F133L; 17:49619064-49619064

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.398T>C; p.F133S; 17:49619063-49619063

prostatecarcinomaSubstitution - Missense

c.398T>C; p.F133S; 17:49619063-49619063

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.398T>C; p.F133S; 17:49619063-49619063

prostateadenomaSubstitution - Missense

c.398T>C; p.F133S; 17:49619063-49619063

prostatecarcinomaSubstitution - Missense

c.398T>C; p.F133S; 17:49619063-49619063

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.398T>C; p.F133S; 17:49619063-49619063

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.133C>T; p.R45W; 17:49622013-49622013

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.349A>G; p.M117V; 17:49619237-49619237

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.79-1G>T; p.?; 17:49622068-49622068

urinary_tract; bladdercarcinomaUnknown

c.310T>A; p.F104I; 17:49619276-49619276

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.349A>G; p.M117V; 17:49619237-49619237

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.140A>C; p.E47A; 17:49622006-49622006

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.385A>G; p.K129E; 17:49619076-49619076

prostatecarcinomaSubstitution - Missense

c.904G>A; p.A302T; 17:49601941-49601941

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.998_999insT; p.L333fs*19; 17:49600504-49600505

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift


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