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

Basic Information

Gene ID

5581

Name

PRKCE

Synonymous

protein kinase C, epsilon;PRKCE;protein kinase C, epsilon

Definition

protein kinase C epsilon type

Position

2p21

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 0.13.

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.85G>A; p.V29M; 2:45652185-45652185

haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.916C>A; p.L306M; 2:46001496-46001496

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.590A>C; p.Q197P; 2:45978993-45978993

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1512C>T; p.F504F; 2:46086282-46086282

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1512C>T; p.F504F; 2:46086282-46086282

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.485G>A; p.R162H; 2:45976501-45976501

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.485G>A; p.R162H; 2:45976501-45976501

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1479delC; p.L494fs*40; 2:46086249-46086249

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.2105T>G; p.F702C; 2:46184772-46184772

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1399C>T; p.P467S; 2:46010479-46010479

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.898G>A; p.A300T; 2:46001478-46001478

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.898G>A; p.A300T; 2:46001478-46001478

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.123_124CA>AG; p.Y41_I42>*; 2:45652223-45652224

large_intestine; rectumcarcinoma; adenocarcinomaComplex - deletion inframe

c.1553C>T; p.S518L; 2:46086323-46086323

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1553C>T; p.S518L; 2:46086323-46086323

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1621G>A; p.D541N; 2:46145121-46145121

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1114C>T; p.R372*; 2:46007512-46007512

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1504C>T; p.R502*; 2:46086274-46086274

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1504C>T; p.R502*; 2:46086274-46086274

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1504C>T; p.R502*; 2:46086274-46086274

skinmalignant_melanomaSubstitution - Nonsense

c.2139C>T; p.D713D; 2:46184806-46184806

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2063G>T; p.R688L; 2:46159748-46159748

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.943A>G; p.N315D; 2:46001523-46001523

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1914G>C; p.L638F; 2:46151223-46151223

ovaryother; neoplasmSubstitution - Missense

c.230G>A; p.R77H; 2:45652330-45652330

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1014A>T; p.P338P; 2:46004589-46004589

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1438-1G>A; p.?; 2:46086207-46086207

breastcarcinomaUnknown

c.415C>T; p.P139S; 2:45976431-45976431

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1130G>T; p.R377L; 2:46007528-46007528

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.79C>T; p.H27Y; 2:45652179-45652179

breastcarcinomaSubstitution - Missense

c.2049A>C; p.P683P; 2:46159734-46159734

breastcarcinomaSubstitution - coding silent

c.1297G>C; p.V433L; 2:46010377-46010377

ovaryother; neoplasmSubstitution - Missense

c.478G>A; p.V160I; 2:45976494-45976494

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2159T>A; p.I720N; 2:46184826-46184826

breastcarcinomaSubstitution - Missense

c.1943A>C; p.K648T; 2:46159628-46159628

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1391G>A; p.R464Q; 2:46010471-46010471

skinmalignant_melanomaSubstitution - Missense

c.1776C>T; p.A592A; 2:46151085-46151085

thyroidother; neoplasmSubstitution - coding silent

c.1310A>C; p.K437T; 2:46010390-46010390

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.277G>A; p.D93N; 2:45652377-45652377

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1064-10T>G; p.?; 2:46007452-46007452

oesophaguscarcinoma; adenocarcinomaUnknown

c.735C>T; p.F245F; 2:45984592-45984592

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.693G>T; p.Q231H; 2:45980381-45980381

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.695T>G; p.V232G; 2:45984552-45984552

breastcarcinomaSubstitution - Missense

c.208G>A; p.V70I; 2:45652308-45652308

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1077T>C; p.L359L; 2:46007475-46007475

breastcarcinomaSubstitution - coding silent

c.1974C>T; p.G658G; 2:46159659-46159659

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.419A>G; p.K140R; 2:45976435-45976435

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.419A>G; p.K140R; 2:45976435-45976435

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.20T>A; p.L7H; 2:45652120-45652120

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.483G>A; p.R161R; 2:45976499-45976499

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1401G>A; p.P467P; 2:46010481-46010481

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1204C>T; p.R402C; 2:46007602-46007602

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.664G>T; p.G222W; 2:45980352-45980352

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.2063G>A; p.R688H; 2:46159748-46159748

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.268G>C; p.G90R; 2:45652368-45652368

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.803G>A; p.R268Q; 2:45984660-45984660

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1701C>T; p.F567F; 2:46145201-46145201

skinmalignant_melanomaSubstitution - coding silent

c.449G>A; p.R150H; 2:45976465-45976465

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.706C>A; p.R236R; 2:45984563-45984563

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.449G>A; p.R150H; 2:45976465-45976465

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1374G>A; p.R458R; 2:46010454-46010454

skinmalignant_melanomaSubstitution - coding silent

c.639C>T; p.H213H; 2:45980327-45980327

breastcarcinomaSubstitution - coding silent

c.99G>A; p.P33P; 2:45652199-45652199

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1188G>A; p.R396R; 2:46007586-46007586

breastcarcinomaSubstitution - coding silent

c.237C>T; p.I79I; 2:45652337-45652337

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.504C>T; p.N168N; 2:45976520-45976520

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2068-1G>T; p.?; 2:46184734-46184734

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.466C>G; p.R156G; 2:45976482-45976482

soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.154G>A; p.G52S; 2:45652254-45652254

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.624C>T; p.V208V; 2:45980312-45980312

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1805C>T; p.A602V; 2:46151114-46151114

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1263+8G>A; p.?; 2:46007669-46007669

livercarcinomaUnknown

c.808G>C; p.G270R; 2:45984665-45984665

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1441C>A; p.R481S; 2:46086211-46086211

breastcarcinomaSubstitution - Missense

c.1428C>G; p.F476L; 2:46010508-46010508

ovaryother; neoplasmSubstitution - Missense

c.441C>T; p.F147F; 2:45976457-45976457

skinmalignant_melanomaSubstitution - coding silent

c.1975G>C; p.E659Q; 2:46159660-46159660

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1653C>T; p.F551F; 2:46145153-46145153

breastcarcinomaSubstitution - coding silent

c.2180G>T; p.G727V; 2:46184847-46184847

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1653C>T; p.F551F; 2:46145153-46145153

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.708G>A; p.R236R; 2:45984565-45984565

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.736G>A; p.G246S; 2:45984593-45984593

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.872A>G; p.N291S; 2:46001452-46001452

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.618C>T; p.C206C; 2:45980306-45980306

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.503A>T; p.N168I; 2:45976519-45976519

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.388G>A; p.D130N; 2:45843039-45843039

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1082A>C; p.N361T; 2:46007480-46007480

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1453G>A; p.V485I; 2:46086223-46086223

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1453G>A; p.V485I; 2:46086223-46086223

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1452C>T; p.F484F; 2:46086222-46086222

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.929C>T; p.P310L; 2:46001509-46001509

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.43G>A; p.A15T; 2:45652143-45652143

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.913G>A; p.D305N; 2:46001493-46001493

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.43G>A; p.A15T; 2:45652143-45652143

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1351G>T; p.D451Y; 2:46010431-46010431

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.687C>T; p.P229P; 2:45980375-45980375

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.687C>T; p.P229P; 2:45980375-45980375

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1120G>A; p.E374K; 2:46007518-46007518

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1115G>A; p.R372Q; 2:46007513-46007513

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1964C>T; p.S655L; 2:46159649-46159649

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.697G>T; p.G233C; 2:45984554-45984554

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.843C>T; p.H281H; 2:46001423-46001423

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.71C>T; p.S24L; 2:45652171-45652171

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.254A>G; p.H85R; 2:45652354-45652354

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.2160C>T; p.I720I; 2:46184827-46184827

breastcarcinomaSubstitution - coding silent

c.7G>C; p.V3L; 2:45652107-45652107

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1841A>G; p.D614G; 2:46151150-46151150

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1818delC; p.F607fs*32; 2:46151127-46151127

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1327G>A; p.V443I; 2:46010407-46010407

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1789A>G; p.M597V; 2:46151098-46151098

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1795G>A; p.E599K; 2:46151104-46151104

skinmalignant_melanomaSubstitution - Missense

c.1866C>T; p.D622D; 2:46151175-46151175

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1319A>G; p.K440R; 2:46010399-46010399

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1833T>C; p.N611N; 2:46151142-46151142

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.8T>C; p.V3A; 2:45652108-45652108

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1390C>T; p.R464W; 2:46010470-46010470

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.454C>T; p.R152W; 2:45976470-45976470

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.707G>A; p.R236Q; 2:45984564-45984564

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.404C>T; p.S135L; 2:45843055-45843055

breastcarcinomaSubstitution - Missense

c.1373G>T; p.R458M; 2:46010453-46010453

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1816delC; p.F607fs*32; 2:46151125-46151125

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.527A>G; p.Y176C; 2:45976543-45976543

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1027C>T; p.R343*; 2:46004602-46004602

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1797G>A; p.E599E; 2:46151106-46151106

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.427G>A; p.E143K; 2:45976443-45976443

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.120C>T; p.P40P; 2:45652220-45652220

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1346A>T; p.D449V; 2:46010426-46010426

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1513G>A; p.D505N; 2:46086283-46086283

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1513G>A; p.D505N; 2:46086283-46086283

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.897C>T; p.I299I; 2:46001477-46001477

stomachcarcinoma; adenocarcinomaSubstitution - coding silent


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