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

Basic Information

Gene ID

11107

Name

PRDM5

Synonymous

PR domain containing 5;PRDM5;PR domain containing 5

Definition

PR domain zinc finger protein 5

Position

4q25-q26

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 0.19.

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.352G>C; p.E118Q; 4:120821294-120821294

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.866-3T>A; p.?; 4:120811452-120811452

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.957A>G; p.I319M; 4:120799734-120799734

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1379A>C; p.K460T; 4:120781207-120781207

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.744T>C; p.S248S; 4:120816574-120816574

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.215A>T; p.D72V; 4:120853503-120853503

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1672C>T; p.R558*; 4:120710365-120710365

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1672C>T; p.R558*; 4:120710365-120710365

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1678C>T; p.L560L; 4:120710359-120710359

 skinmalignant_melanomaSubstitution - coding silent

c.1222G>T; p.E408*; 4:120785058-120785058

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.467G>A; p.G156D; 4:120821179-120821179

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.29T>C; p.F10S; 4:120922580-120922580

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.460A>G; p.T154A; 4:120821186-120821186

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.934G>A; p.E312K; 4:120811381-120811381

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1363C>T; p.H455Y; 4:120781223-120781223

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1231G>T; p.A411S; 4:120785049-120785049

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1272A>G; p.L424L; 4:120785008-120785008

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.961G>T; p.D321Y; 4:120799730-120799730

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1456G>T; p.E486*; 4:120777269-120777269

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1558C>T; p.P520S; 4:120754618-120754618

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1659C>T; p.A553A; 4:120710378-120710378

 skinmalignant_melanomaSubstitution - coding silent

c.386A>G; p.E129G; 4:120821260-120821260

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.681A>G; p.L227L; 4:120816894-120816894

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1407C>T; p.A469A; 4:120781179-120781179

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1066T>C; p.S356P; 4:120798389-120798389

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1582A>C; p.K528Q; 4:120754594-120754594

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.751C>T; p.Q251*; 4:120816567-120816567

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1121A>G; p.K374R; 4:120798334-120798334

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.198A>C; p.E66D; 4:120853520-120853520

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1554A>G; p.Q518Q; 4:120754622-120754622

 livercarcinomaSubstitution - coding silent

c.1554A>G; p.Q518Q; 4:120754622-120754622

 livercarcinomaSubstitution - coding silent

c.1474C>T; p.P492S; 4:120777251-120777251

 skinmalignant_melanomaSubstitution - Missense

c.586G>T; p.E196*; 4:120818417-120818417

 breastcarcinomaSubstitution - Nonsense

c.557T>A; p.L186H; 4:120818446-120818446

 breastcarcinomaSubstitution - Missense

c.1146A>G; p.G382G; 4:120798309-120798309

 livercarcinomaSubstitution - coding silent

c.1007A>C; p.K336T; 4:120799684-120799684

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.196G>A; p.E66K; 4:120853522-120853522

 skinmalignant_melanomaSubstitution - Missense

c.481C>A; p.L161I; 4:120818522-120818522

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.685G>T; p.E229*; 4:120816890-120816890

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1196C>T; p.S399F; 4:120785084-120785084

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.666A>T; p.T222T; 4:120816909-120816909

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1071C>G; p.F357L; 4:120798384-120798384

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1234T>C; p.L412L; 4:120785046-120785046

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1234T>C; p.L412L; 4:120785046-120785046

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1234T>C; p.L412L; 4:120785046-120785046

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1051G>A; p.E351K; 4:120798404-120798404

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1609C>T; p.R537C; 4:120754567-120754567

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1657G>A; p.A553T; 4:120710380-120710380

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.760G>A; p.E254K; 4:120816558-120816558

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.44C>T; p.S15F; 4:120922565-120922565

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.769C>T; p.R257W; 4:120816549-120816549

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.769C>T; p.R257W; 4:120816549-120816549

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.895G>A; p.V299M; 4:120811420-120811420

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.465G>A; p.A155A; 4:120821181-120821181

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.895G>A; p.V299M; 4:120811420-120811420

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.895G>A; p.V299M; 4:120811420-120811420

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.573G>C; p.Q191H; 4:120818430-120818430

 ovaryother; neoplasmSubstitution - Missense

c.533G>T; p.S178I; 4:120818470-120818470

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1356G>T; p.Q452H; 4:120781230-120781230

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.63G>A; p.M21I; 4:120922546-120922546

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1672C>A; p.R558R; 4:120710365-120710365

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1380G>A; p.K460K; 4:120781206-120781206

 skinmalignant_melanomaSubstitution - coding silent

c.856G>A; p.V286I; 4:120816462-120816462

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.949C>A; p.H317N; 4:120799742-120799742

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1743T>A; p.A581A; 4:120695261-120695261

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1113C>A; p.S371R; 4:120798342-120798342

 livercarcinomaSubstitution - Missense

c.1113C>A; p.S371R; 4:120798342-120798342

 livercarcinomaSubstitution - Missense

c.770G>T; p.R257L; 4:120816548-120816548

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1041delC; p.Y348fs*21; 4:120798414-120798414

 livercarcinomaDeletion - Frameshift

c.695G>A; p.R232Q; 4:120816880-120816880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.695G>A; p.R232Q; 4:120816880-120816880

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.247C>T; p.R83C; 4:120853471-120853471

 skinmalignant_melanomaSubstitution - Missense

c.832G>T; p.A278S; 4:120816486-120816486

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.817C>A; p.L273M; 4:120816501-120816501

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.253G>A; p.V85I; 4:120853465-120853465

 pancreasNSSubstitution - Missense

c.817C>A; p.L273M; 4:120816501-120816501

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.253G>A; p.V85I; 4:120853465-120853465

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.941G>C; p.R314T; 4:120811374-120811374

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1525C>T; p.R509W; 4:120777200-120777200

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1024C>T; p.H342Y; 4:120799667-120799667

 skinmalignant_melanomaSubstitution - Missense

c.62T>C; p.M21T; 4:120922547-120922547

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.83G>A; p.R28K; 4:120922526-120922526

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1525C>T; p.R509W; 4:120777200-120777200

 breastcarcinomaSubstitution - Missense

c.1698G>A; p.T566T; 4:120710339-120710339

 central_nervous_system; braingliomaSubstitution - coding silent

c.1156G>A; p.A386T; 4:120798299-120798299

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1461G>T; p.K487N; 4:120777264-120777264

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1051G>T; p.E351*; 4:120798404-120798404

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.1768C>T; p.R590*; 4:120695236-120695236

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1130A>C; p.K377T; 4:120798325-120798325

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1586A>G; p.N529S; 4:120754590-120754590

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1139T>G; p.L380R; 4:120798316-120798316

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.490A>T; p.K164*; 4:120818513-120818513

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.741G>A; p.S247S; 4:120816834-120816834

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1507A>G; p.T503A; 4:120777218-120777218

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1257A>G; p.L419L; 4:120785023-120785023

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.301-3C>T; p.?; 4:120821348-120821348

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.1624G>A; p.E542K; 4:120710413-120710413

 skinmalignant_melanomaSubstitution - Missense

c.436G>A; p.V146I; 4:120821210-120821210

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.217G>T; p.A73S; 4:120853501-120853501

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.154A>G; p.M52V; 4:120907497-120907497

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1411G>T; p.V471F; 4:120781175-120781175

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.185G>A; p.G62E; 4:120853533-120853533

 skinmalignant_melanomaSubstitution - Missense

c.650+4C>T; p.?; 4:120818349-120818349

 pancreascarcinomaUnknown

c.736G>A; p.A246T; 4:120816839-120816839

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1157C>T; p.A386V; 4:120798298-120798298

 livercarcinomaSubstitution - Missense

c.252C>T; p.F84F; 4:120853466-120853466

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.252C>T; p.F84F; 4:120853466-120853466

 skinmalignant_melanomaSubstitution - coding silent

c.1245C>T; p.T415T; 4:120785035-120785035

 large_intestine; colonadenomaSubstitution - coding silent

c.1430G>A; p.R477K; 4:120781156-120781156

 skin; neckmalignant_melanomaSubstitution - Missense

c.229C>A; p.R77R; 4:120853489-120853489

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.94G>T; p.G32C; 4:120907557-120907557

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1362T>C; p.V454V; 4:120781224-120781224

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1811G>A; p.C604Y; 4:120695193-120695193

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1247C>T; p.P416L; 4:120785033-120785033

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.79C>T; p.R27C; 4:120922530-120922530

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.234C>A; p.H78Q; 4:120853484-120853484

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.181C>T; p.R61C; 4:120853537-120853537

 skinmalignant_melanomaSubstitution - Missense

c.181C>T; p.R61C; 4:120853537-120853537

 skinmalignant_melanomaSubstitution - Missense

c.703C>T; p.Q235*; 4:120816872-120816872

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1036C>T; p.R346*; 4:120798419-120798419

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1808A>G; p.E603G; 4:120695196-120695196

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1444-1G>A; p.?; 4:120777282-120777282

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.1034A>G; p.K345R; 4:120798421-120798421

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1694G>T; p.R565M; 4:120710343-120710343

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.615G>A; p.G205G; 4:120818388-120818388

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1599G>A; p.K533K; 4:120754577-120754577

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1159delC; p.H387fs*38; 4:120798296-120798296

 livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.1491A>C; p.K497N; 4:120777234-120777234

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.193G>T; p.G65*; 4:120853525-120853525

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1369A>C; p.R457R; 4:120781217-120781217

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.132G>T; p.M44I; 4:120907519-120907519

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1543C>T; p.R515C; 4:120754633-120754633

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.592G>T; p.E198*; 4:120818411-120818411

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.592G>T; p.E198*; 4:120818411-120818411

 pancreascarcinomaSubstitution - Nonsense

c.592G>T; p.E198*; 4:120818411-120818411

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1169T>A; p.V390D; 4:120798286-120798286

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.491A>T; p.K164I; 4:120818512-120818512

 thyroidother; neoplasmSubstitution - Missense

c.231G>A; p.R77R; 4:120853487-120853487

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1030+2T>C; p.?; 4:120799659-120799659

 stomachcarcinoma; intestinal_adenocarcinomaUnknown

c.204G>C; p.L68F; 4:120853514-120853514

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.479G>A; p.R160H; 4:120818524-120818524

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1280A>C; p.N427T; 4:120785000-120785000

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.625C>T; p.P209S; 4:120818378-120818378

 skinmalignant_melanomaSubstitution - Missense

c.1752G>A; p.L584L; 4:120695252-120695252

 breastcarcinomaSubstitution - coding silent

c.1040C>T; p.P347L; 4:120798415-120798415

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.740C>T; p.S247L; 4:120816835-120816835

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.740C>T; p.S247L; 4:120816835-120816835

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1831T>C; p.F611L; 4:120695173-120695173

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1691A>G; p.K564R; 4:120710346-120710346

 skinmalignant_melanomaSubstitution - Missense

c.485G>C; p.G162A; 4:120818518-120818518

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.106G>A; p.G36R; 4:120907545-120907545

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.106G>A; p.G36R; 4:120907545-120907545

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.765T>A; p.T255T; 4:120816553-120816553

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1747A>T; p.S583C; 4:120695257-120695257

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1807G>A; p.E603K; 4:120695197-120695197

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1807G>A; p.E603K; 4:120695197-120695197

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1807G>A; p.E603K; 4:120695197-120695197

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1184A>C; p.K395T; 4:120798271-120798271

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.679C>G; p.L227V; 4:120816896-120816896

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.389C>T; p.A130V; 4:120821257-120821257

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.847C>A; p.Q283K; 4:120816471-120816471

 skinmalignant_melanomaSubstitution - Missense

c.865+5G>T; p.?; 4:120816448-120816448

 pancreascarcinomaUnknown

c.1517T>G; p.V506G; 4:120777208-120777208

 central_nervous_system; braingliomaSubstitution - Missense

c.912T>C; p.C304C; 4:120811403-120811403

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.464C>T; p.A155V; 4:120821182-120821182

 pancreascarcinomaSubstitution - Missense

c.400G>A; p.E134K; 4:120821246-120821246

 skinmalignant_melanomaSubstitution - Missense

c.1198G>A; p.E400K; 4:120785082-120785082

 parathyroidcarcinomaSubstitution - Missense

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