Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

6672

Name

SP100

Synonymous

SP100 nuclear antigen;SP100;SP100 nuclear antigen

Definition

SP100-HMG nuclear autoantigen|nuclear autoantigen Sp-100|nuclear dot-associated Sp100 protein|speckled 100 kDa

Position

2q37.1

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 0.18.

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.1587C>G; p.H529Q; 2:230474434-230474434

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1124G>A; p.R375Q; 2:230464133-230464133

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.242G>A; p.R81H; 2:230443071-230443071

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1292C>A; p.A431D; 2:230469043-230469043

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.10delG; p.G5fs*4; 2:230416306-230416306

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.10delG; p.G5fs*4; 2:230416306-230416306

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.596C>T; p.P199L; 2:230449570-230449570

 skinmalignant_melanomaSubstitution - Missense

c.724G>A; p.A242T; 2:230449698-230449698

 central_nervous_system; brainglioma; astrocytoma_Grade_IIISubstitution - Missense

c.745G>A; p.E249K; 2:230450180-230450180

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1599_1600+2delAAGT; p.?; 2:230474446-230474449

 haematopoietic_and_lymphoid_tissue; abdomenlymphoid_neoplasm; diffuse_large_B_cell_lymphomaUnknown

c.745G>A; p.E249K; 2:230450180-230450180

 central_nervous_system; braingliomaSubstitution - Missense

c.1806A>G; p.Q602Q; 2:230504226-230504226

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.787G>A; p.E263K; 2:230450222-230450222

 skinmalignant_melanomaSubstitution - Missense

c.992C>G; p.S331C; 2:230462453-230462453

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2334G>T; p.L778L; 2:230515334-230515334

 pancreascarcinomaSubstitution - coding silent

c.2334G>T; p.L778L; 2:230515334-230515334

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.236G>A; p.R79H; 2:230443065-230443065

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1721G>A; p.G574E; 2:230503066-230503066

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.92G>A; p.S31N; 2:230417650-230417650

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.236G>A; p.R79H; 2:230443065-230443065

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2289C>T; p.F763F; 2:230515289-230515289

 skinmalignant_melanomaSubstitution - coding silent

c.1805A>T; p.Q602L; 2:230504225-230504225

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.608G>A; p.G203E; 2:230449582-230449582

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2242G>C; p.E748Q; 2:230515242-230515242

 breastcarcinomaSubstitution - Missense

c.2628T>A; p.D876E; 2:230515628-230515628

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1742C>T; p.P581L; 2:230503087-230503087

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1874C>A; p.T625N; 2:230506306-230506306

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.545G>A; p.R182Q; 2:230449109-230449109

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.545G>A; p.R182Q; 2:230449109-230449109

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1241C>T; p.A414V; 2:230467165-230467165

 skinmalignant_melanomaSubstitution - Missense

c.1257G>A; p.S419S; 2:230467181-230467181

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1257G>A; p.S419S; 2:230467181-230467181

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2630A>G; p.D877G; 2:230515630-230515630

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2508T>G; p.Y836*; 2:230515508-230515508

 skinmalignant_melanomaSubstitution - Nonsense

c.1742C>A; p.P581H; 2:230503087-230503087

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.279A>C; p.Q93H; 2:230444186-230444186

 livercarcinomaSubstitution - Missense

c.862T>C; p.S288P; 2:230461303-230461303

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1804C>T; p.Q602*; 2:230504224-230504224

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.1188_1195+17del25; p.?; 2:230466347-230466371

 skin; backmalignant_melanomaUnknown

c.1006G>A; p.D336N; 2:230462467-230462467

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1614G>T; p.R538S; 2:230494429-230494429

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1531G>A; p.A511T; 2:230473425-230473425

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2432C>T; p.A811V; 2:230515432-230515432

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.974-2A>T; p.?; 2:230462433-230462433

 lungcarcinoma; adenocarcinomaUnknown

c.1081G>T; p.E361*; 2:230464090-230464090

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.153C>G; p.D51E; 2:230442982-230442982

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.404C>T; p.P135L; 2:230444311-230444311

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.342G>A; p.E114E; 2:230444249-230444249

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.985G>C; p.E329Q; 2:230462446-230462446

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.46T>C; p.C16R; 2:230417604-230417604

 skinmalignant_melanomaSubstitution - Missense

c.1208A>G; p.D403G; 2:230467132-230467132

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1541T>A; p.M514K; 2:230473435-230473435

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2274_2275insA; p.K762fs*21; 2:230515274-230515275

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1571C>A; p.S524Y; 2:230474418-230474418

 pancreascarcinomaSubstitution - Missense

c.1290G>T; p.K430N; 2:230467214-230467214

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1246G>A; p.A416T; 2:230467170-230467170

 central_nervous_system; braingliomaSubstitution - Missense

c.1746G>C; p.L582F; 2:230503091-230503091

 breastcarcinomaSubstitution - Missense

c.1972A>C; p.S658R; 2:230506404-230506404

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1790A>G; p.N597S; 2:230504210-230504210

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1246G>A; p.A416T; 2:230467170-230467170

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1972A>C; p.S658R; 2:230506404-230506404

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.406G>A; p.D136N; 2:230444313-230444313

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.406G>A; p.D136N; 2:230444313-230444313

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.406G>A; p.D136N; 2:230444313-230444313

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.406G>A; p.D136N; 2:230444313-230444313

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.617A>G; p.E206G; 2:230449591-230449591

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.340G>A; p.E114K; 2:230444247-230444247

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1769C>T; p.P590L; 2:230504189-230504189

 skinmalignant_melanomaSubstitution - Missense

c.225C>G; p.L75L; 2:230443054-230443054

 breastcarcinomaSubstitution - coding silent

c.793C>T; p.P265S; 2:230450228-230450228

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.239A>T; p.D80V; 2:230443068-230443068

 skinmalignant_melanomaSubstitution - Missense

c.2617A>G; p.N873D; 2:230515617-230515617

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2078C>T; p.T693I; 2:230511150-230511150

 skinmalignant_melanomaSubstitution - Missense

c.2629G>A; p.D877N; 2:230515629-230515629

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1143G>A; p.E381E; 2:230466302-230466302

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2203G>A; p.E735K; 2:230515203-230515203

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.16G>A; p.G6S; 2:230416312-230416312

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1832A>G; p.E611G; 2:230504252-230504252

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2095G>A; p.E699K; 2:230515095-230515095

 skinmalignant_melanomaSubstitution - Missense

c.1040C>T; p.A347V; 2:230462501-230462501

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.755C>T; p.A252V; 2:230450190-230450190

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2626G>A; p.D876N; 2:230515626-230515626

 skinmalignant_melanomaSubstitution - Missense

c.1046G>T; p.R349I; 2:230462507-230462507

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2014-9delC; p.?; 2:230507984-230507984

 skinmalignant_melanomaUnknown

c.1958A>T; p.K653M; 2:230506390-230506390

 kidneyother; neoplasmSubstitution - Missense

c.566C>T; p.S189L; 2:230449130-230449130

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2259C>T; p.I753I; 2:230515259-230515259

 skinmalignant_melanomaSubstitution - coding silent

c.2259C>T; p.I753I; 2:230515259-230515259

 skinmalignant_melanomaSubstitution - coding silent

c.2242G>T; p.E748*; 2:230515242-230515242

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.194C>A; p.S65*; 2:230443023-230443023

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.194C>A; p.S65*; 2:230443023-230443023

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1110A>G; p.E370E; 2:230464119-230464119

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.268G>A; p.E90K; 2:230443097-230443097

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.741C>T; p.S247S; 2:230450176-230450176

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.741C>T; p.S247S; 2:230450176-230450176

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.275C>A; p.S92Y; 2:230444182-230444182

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.539C>G; p.S180C; 2:230449103-230449103

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1884G>C; p.K628N; 2:230506316-230506316

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1689C>A; p.N563K; 2:230498504-230498504

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2429C>T; p.T810I; 2:230515429-230515429

 skinmalignant_melanomaSubstitution - Missense

c.44_45delAA; p.E15fs*8; 2:230417602-230417603

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1157G>A; p.R386K; 2:230466316-230466316

 breastcarcinomaSubstitution - Missense

c.401A>G; p.Y134C; 2:230444308-230444308

 breastcarcinomaSubstitution - Missense

c.1805A>G; p.Q602R; 2:230504225-230504225

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.618G>C; p.E206D; 2:230449592-230449592

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.544C>T; p.R182*; 2:230449108-230449108

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.544C>T; p.R182*; 2:230449108-230449108

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1155C>T; p.F385F; 2:230466314-230466314

 skinmalignant_melanomaSubstitution - coding silent

c.1261G>A; p.G421R; 2:230467185-230467185

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.275C>T; p.S92F; 2:230444182-230444182

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.293A>T; p.N98I; 2:230444200-230444200

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2086G>T; p.D696Y; 2:230511158-230511158

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1766-4G>T; p.?; 2:230504182-230504182

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1858C>T; p.R620*; 2:230504278-230504278

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.539C>A; p.S180Y; 2:230449103-230449103

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.435A>T; p.E145D; 2:230444342-230444342

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1858C>T; p.R620*; 2:230504278-230504278

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1754G>T; p.R585I; 2:230503099-230503099

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2144T>G; p.F715C; 2:230515144-230515144

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.924G>C; p.E308D; 2:230461365-230461365

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.118G>T; p.E40*; 2:230442947-230442947

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2378G>A; p.G793D; 2:230515378-230515378

 breastcarcinomaSubstitution - Missense

c.282T>A; p.D94E; 2:230444189-230444189

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.864C>A; p.S288S; 2:230461305-230461305

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1367C>G; p.S456*; 2:230470036-230470036

 livercarcinomaSubstitution - Nonsense

c.1367C>G; p.S456*; 2:230470036-230470036

 livercarcinomaSubstitution - Nonsense

c.1345C>T; p.R449C; 2:230469096-230469096

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1010T>C; p.V337A; 2:230462471-230462471

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.1675T>C; p.L559L; 2:230498490-230498490

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.116C>T; p.T39M; 2:230442945-230442945

 breastcarcinomaSubstitution - Missense

c.1977A>T; p.I659I; 2:230506409-230506409

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2274G>T; p.E758D; 2:230515274-230515274

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1725A>G; p.R575R; 2:230503070-230503070

 central_nervous_system; braingliomaSubstitution - coding silent

c.1290G>A; p.K430K; 2:230467214-230467214

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2396T>C; p.V799A; 2:230515396-230515396

 skinmalignant_melanomaSubstitution - Missense

c.1344A>T; p.R448S; 2:230469095-230469095

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2146T>G; p.L716V; 2:230515146-230515146

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.800C>T; p.P267L; 2:230450235-230450235

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1922G>A; p.R641K; 2:230506354-230506354

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.366_367GG>AA; p.E123K; 2:230444273-230444274

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1863C>A; p.F621L; 2:230504283-230504283

 breastcarcinomaSubstitution - Missense

c.1193G>C; p.R398T; 2:230466352-230466352

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.472_474delGAA; p.E158del; 2:230446851-230446853

 ovarycarcinoma; serous_carcinomaDeletion - In frame

c.487G>T; p.E163*; 2:230446866-230446866

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.683C>T; p.S228L; 2:230449657-230449657

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2025G>C; p.L675L; 2:230508004-230508004

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.683C>T; p.S228L; 2:230449657-230449657

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.345G>A; p.K115K; 2:230444252-230444252

 breastcarcinomaSubstitution - coding silent

c.574C>G; p.P192A; 2:230449138-230449138

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2613G>T; p.E871D; 2:230515613-230515613

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2275delA; p.K761fs*40; 2:230515275-230515275

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2275delA; p.K761fs*40; 2:230515275-230515275

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2075A>G; p.N692S; 2:230511147-230511147

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.805C>T; p.P269S; 2:230450240-230450240

 skinmalignant_melanomaSubstitution - Missense

c.2052+1G>T; p.?; 2:230508032-230508032

 lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.420T>A; p.I140I; 2:230444327-230444327

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.36G>A; p.R12R; 2:230417594-230417594

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

')