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

Basic Information

Gene ID

23032

Name

USP33

Synonymous

ubiquitin specific peptidase 33;USP33;ubiquitin specific peptidase 33

Definition

VHL-interacting deubiquitinating enzyme 1|deubiquitinating enzyme 33|pVHL-interacting deubiquitinating enzyme 1|ubiquitin carboxyl-terminal hydrolase 33|ubiquitin thioesterase 33|ubiquitin thiolesterase 33|ubiquitin-specific-processing protease 33

Position

1p31.1

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 0.05.

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.107G>A; p.R36Q; 1:77741684-77741684

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.107G>A; p.R36Q; 1:77741684-77741684

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.107G>A; p.R36Q; 1:77741684-77741684

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.107G>A; p.R36Q; 1:77741684-77741684

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.107G>A; p.R36Q; 1:77741684-77741684

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1831-1G>A; p.?; 1:77718048-77718048

 skinmalignant_melanomaUnknown

c.1420G>A; p.V474I; 1:77723393-77723393

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1219A>G; p.R407G; 1:77728304-77728304

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1031A>T; p.N344I; 1:77728492-77728492

 breastcarcinomaSubstitution - Missense

c.1672G>A; p.V558I; 1:77721909-77721909

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2034C>T; p.C678C; 1:77715846-77715846

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1381T>C; p.S461P; 1:77723432-77723432

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2781T>C; p.D927D; 1:77697365-77697365

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2016A>T; p.G672G; 1:77715864-77715864

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.300G>A; p.K100K; 1:77739409-77739409

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1821C>T; p.N607N; 1:77718605-77718605

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1160C>G; p.S387C; 1:77728363-77728363

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2224A>G; p.I742V; 1:77714698-77714698

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.141A>T; p.E47D; 1:77741650-77741650

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1887C>T; p.I629I; 1:77717991-77717991

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.2452G>C; p.E818Q; 1:77711794-77711794

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1236C>G; p.I412M; 1:77725755-77725755

 breastcarcinomaSubstitution - Missense

c.1887C>T; p.I629I; 1:77717991-77717991

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1145A>G; p.D382G; 1:77728378-77728378

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1145A>G; p.D382G; 1:77728378-77728378

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1341G>A; p.W447*; 1:77725650-77725650

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.187G>T; p.D63Y; 1:77741417-77741417

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.381A>G; p.L127L; 1:77739328-77739328

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1024G>C; p.D342H; 1:77728499-77728499

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1372C>G; p.Q458E; 1:77723441-77723441

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.2693C>G; p.S898C; 1:77697453-77697453

 breastcarcinomaSubstitution - Missense

c.2700A>C; p.E900D; 1:77697446-77697446

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1311G>A; p.S437S; 1:77725680-77725680

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.807G>T; p.Q269H; 1:77729863-77729863

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.787A>G; p.T263A; 1:77729883-77729883

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2569G>A; p.E857K; 1:77701402-77701402

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1151A>G; p.D384G; 1:77728372-77728372

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.358G>T; p.E120*; 1:77739351-77739351

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1138G>A; p.E380K; 1:77728385-77728385

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1138G>A; p.E380K; 1:77728385-77728385

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.106C>T; p.R36*; 1:77741685-77741685

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.858A>G; p.E286E; 1:77728665-77728665

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.2223T>C; p.Y741Y; 1:77714699-77714699

 prostatecarcinomaSubstitution - coding silent

c.1667C>T; p.S556L; 1:77721914-77721914

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.861G>T; p.L287F; 1:77728662-77728662

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.793C>T; p.R265W; 1:77729877-77729877

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.793C>T; p.R265W; 1:77729877-77729877

 pancreascarcinomaSubstitution - Missense

c.793C>T; p.R265W; 1:77729877-77729877

 pancreascarcinomaSubstitution - Missense

c.793C>T; p.R265W; 1:77729877-77729877

 pancreascarcinomaSubstitution - Missense

c.2046A>C; p.L682L; 1:77715834-77715834

 livercarcinomaSubstitution - coding silent

c.2046A>C; p.L682L; 1:77715834-77715834

 livercarcinomaSubstitution - coding silent

c.2051A>C; p.N684T; 1:77715829-77715829

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1960A>G; p.I654V; 1:77717918-77717918

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.797G>T; p.G266V; 1:77729873-77729873

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2028C>A; p.A676A; 1:77715852-77715852

 breastcarcinomaSubstitution - coding silent

c.762T>C; p.F254F; 1:77729908-77729908

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1328C>T; p.S443L; 1:77725663-77725663

 skinmalignant_melanomaSubstitution - Missense

c.2141A>C; p.K714T; 1:77714781-77714781

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1163T>C; p.I388T; 1:77728360-77728360

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2011A>G; p.S671G; 1:77717867-77717867

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2718G>A; p.Q906Q; 1:77697428-77697428

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1609T>C; p.Y537H; 1:77722070-77722070

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1609T>C; p.Y537H; 1:77722070-77722070

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1814T>G; p.V605G; 1:77718612-77718612

 skinmalignant_melanomaSubstitution - Missense

c.950A>C; p.D317A; 1:77728573-77728573

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2411T>C; p.V804A; 1:77711835-77711835

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1251G>A; p.S417S; 1:77725740-77725740

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1626G>T; p.W542C; 1:77722053-77722053

 livercarcinomaSubstitution - Missense

c.1647T>A; p.Y549*; 1:77722032-77722032

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Nonsense

c.572G>T; p.G191V; 1:77734392-77734392

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1626G>T; p.W542C; 1:77722053-77722053

 livercarcinomaSubstitution - Missense

c.1464G>A; p.Q488Q; 1:77723349-77723349

 stomachadenocarcinomaSubstitution - coding silent

c.2212C>T; p.L738F; 1:77714710-77714710

 skinmalignant_melanomaSubstitution - Missense

c.1391G>T; p.R464I; 1:77723422-77723422

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1447A>C; p.I483L; 1:77723366-77723366

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2497C>T; p.R833W; 1:77711749-77711749

 skinmalignant_melanomaSubstitution - Missense

c.1728C>G; p.F576L; 1:77721853-77721853

 breastcarcinomaSubstitution - Missense

c.125T>G; p.L42W; 1:77741666-77741666

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1577C>G; p.S526C; 1:77722102-77722102

 prostatecarcinomaSubstitution - Missense

c.2285A>T; p.N762I; 1:77714637-77714637

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2274T>A; p.P758P; 1:77714648-77714648

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.936C>T; p.S312S; 1:77728587-77728587

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.70A>G; p.K24E; 1:77741721-77741721

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2495T>A; p.I832N; 1:77711751-77711751

 skinmalignant_melanomaSubstitution - Missense

c.2341G>T; p.D781Y; 1:77713249-77713249

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1438G>C; p.D480H; 1:77723375-77723375

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.795G>T; p.R265R; 1:77729875-77729875

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.1312G>A; p.A438T; 1:77725679-77725679

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.100G>A; p.A34T; 1:77741691-77741691

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2730T>C; p.G910G; 1:77697416-77697416

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.707T>C; p.M236T; 1:77730642-77730642

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.2039A>G; p.N680S; 1:77715841-77715841

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1980G>A; p.L660L; 1:77717898-77717898

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.77A>G; p.E26G; 1:77741714-77741714

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2427T>C; p.I809I; 1:77711819-77711819

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.49C>T; p.P17S; 1:77741742-77741742

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2802A>C; p.K934N; 1:77697344-77697344

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2138+10A>G; p.?; 1:77715732-77715732

 livercarcinoma; hepatocellular_carcinomaUnknown

c.318C>A; p.N106K; 1:77739391-77739391

 breastcarcinomaSubstitution - Missense

c.2138+10A>G; p.?; 1:77715732-77715732

 livercarcinomaUnknown

c.2163delA; p.E722fs*9; 1:77714759-77714759

 livercarcinomaDeletion - Frameshift

c.1275C>T; p.I425I; 1:77725716-77725716

 skinmalignant_melanomaSubstitution - coding silent

c.2208C>T; p.S736S; 1:77714714-77714714

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.292-2A>T; p.?; 1:77739419-77739419

 lungcarcinoma; small_cell_carcinomaUnknown

c.632A>C; p.Q211P; 1:77730717-77730717

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1042A>G; p.M348V; 1:77728481-77728481

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1973A>T; p.D658V; 1:77717905-77717905

 pancreascarcinomaSubstitution - Missense

c.1973A>T; p.D658V; 1:77717905-77717905

 pancreascarcinomaSubstitution - Missense

c.1907C>G; p.P636R; 1:77717971-77717971

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1240G>T; p.D414Y; 1:77725751-77725751

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2048A>G; p.N683S; 1:77715832-77715832

 skinmalignant_melanomaSubstitution - Missense

c.1598G>A; p.C533Y; 1:77722081-77722081

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.947T>C; p.V316A; 1:77728576-77728576

 livercarcinomaSubstitution - Missense

c.1467T>C; p.C489C; 1:77723346-77723346

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.947T>C; p.V316A; 1:77728576-77728576

 livercarcinomaSubstitution - Missense

c.1566T>A; p.S522R; 1:77722113-77722113

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.1602C>T; p.G534G; 1:77722077-77722077

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2384A>G; p.Y795C; 1:77713206-77713206

 livercarcinomaSubstitution - Missense

c.463A>G; p.N155D; 1:77736140-77736140

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2230C>T; p.R744*; 1:77714692-77714692

 skinmalignant_melanomaSubstitution - Nonsense

c.353G>T; p.S118I; 1:77739356-77739356

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1551G>T; p.K517N; 1:77722128-77722128

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2599G>A; p.G867R; 1:77701372-77701372

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.662G>A; p.R221Q; 1:77730687-77730687

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.543C>A; p.A181A; 1:77736060-77736060

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2273C>G; p.P758R; 1:77714649-77714649

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.543C>A; p.A181A; 1:77736060-77736060

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.86C>T; p.P29L; 1:77741705-77741705

 skinmalignant_melanomaSubstitution - Missense

c.2613T>C; p.G871G; 1:77697921-77697921

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1370-1G>T; p.?; 1:77723444-77723444

 lungcarcinoma; adenocarcinomaUnknown

c.2812G>A; p.E938K; 1:77697334-77697334

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2616T>C; p.P872P; 1:77697918-77697918

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1127A>C; p.N376T; 1:77728396-77728396

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1598G>T; p.C533F; 1:77722081-77722081

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1580T>C; p.I527T; 1:77722099-77722099

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1580T>C; p.I527T; 1:77722099-77722099

 stomachadenocarcinomaSubstitution - Missense

c.1855T>G; p.F619V; 1:77718023-77718023

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1378G>A; p.A460T; 1:77723435-77723435

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2149G>A; p.E717K; 1:77714773-77714773

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.2743G>T; p.V915F; 1:77697403-77697403

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1542C>T; p.D514D; 1:77722137-77722137

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2554A>G; p.M852V; 1:77701417-77701417

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.1892C>G; p.T631S; 1:77717986-77717986

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1901C>T; p.S634L; 1:77717977-77717977

 skinmalignant_melanomaSubstitution - Missense

c.1218C>T; p.S406S; 1:77728305-77728305

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2464A>T; p.K822*; 1:77711782-77711782

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2481A>G; p.E827E; 1:77711765-77711765

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1439A>T; p.D480V; 1:77723374-77723374

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1825C>T; p.P609S; 1:77718601-77718601

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2274T>C; p.P758P; 1:77714648-77714648

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1394A>G; p.K465R; 1:77723419-77723419

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1355C>T; p.P452L; 1:77725636-77725636

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.970T>C; p.C324R; 1:77728553-77728553

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1310C>T; p.S437L; 1:77725681-77725681

 skinmalignant_melanomaSubstitution - Missense

c.1517C>T; p.S506F; 1:77722162-77722162

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.986G>T; p.R329I; 1:77728537-77728537

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.170C>T; p.S57F; 1:77741621-77741621

 skinmalignant_melanomaSubstitution - Missense

c.493G>A; p.V165I; 1:77736110-77736110

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2126T>C; p.V709A; 1:77715754-77715754

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2492T>A; p.F831Y; 1:77711754-77711754

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1384C>T; p.P462S; 1:77723429-77723429

 skinmalignant_melanomaSubstitution - Missense

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