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

Basic Information

Gene ID

5333

Name

PLCD1

Synonymous

phospholipase C, delta 1;PLCD1;phospholipase C, delta 1

Definition

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-1|PLC-delta-1|phosphoinositide phospholipase C-delta-1|phospholipase C-III

Position

3p22-p21.3

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.2191C>T; p.R731C; 3:38007853-38007853

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.903A>G; p.P301P; 3:38010450-38010450

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.903A>G; p.P301P; 3:38010450-38010450

 breastcarcinomaSubstitution - coding silent

c.185C>T; p.P62L; 3:38020202-38020202

 skinmalignant_melanomaSubstitution - Missense

c.2167T>C; p.L723L; 3:38008032-38008032

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1152T>G; p.P384P; 3:38010039-38010039

 pancreascarcinomaSubstitution - coding silent

c.1761C>T; p.D587D; 3:38008599-38008599

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2102G>A; p.R701H; 3:38008097-38008097

 pancreascarcinomaSubstitution - Missense

c.1140G>A; p.A380A; 3:38010051-38010051

 prostatecarcinomaSubstitution - coding silent

c.119G>A; p.R40H; 3:38020268-38020268

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.846T>C; p.A282A; 3:38010507-38010507

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1783G>A; p.D595N; 3:38008577-38008577

 breastcarcinomaSubstitution - Missense

c.1327G>A; p.G443R; 3:38009772-38009772

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.474C>G; p.N158K; 3:38011628-38011628

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1694T>A; p.V565E; 3:38009071-38009071

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.724C>T; p.R242W; 3:38011280-38011280

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.724C>T; p.R242W; 3:38011280-38011280

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.724C>T; p.R242W; 3:38011280-38011280

 large_intestine; coloncarcinomaSubstitution - Missense

c.724C>T; p.R242W; 3:38011280-38011280

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1066C>T; p.H356Y; 3:38010202-38010202

 skinmalignant_melanomaSubstitution - Missense

c.1153G>A; p.V385I; 3:38010038-38010038

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.752C>T; p.A251V; 3:38011252-38011252

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.363G>A; p.W121*; 3:38016556-38016556

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.363G>A; p.W121*; 3:38016556-38016556

 livercarcinomaSubstitution - Nonsense

c.1041G>A; p.G347G; 3:38010227-38010227

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1977G>A; p.E659E; 3:38008293-38008293

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.306G>T; p.K102N; 3:38016613-38016613

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1948T>G; p.S650A; 3:38008322-38008322

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.198G>T; p.L66L; 3:38020189-38020189

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1234A>G; p.M412V; 3:38009957-38009957

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1580G>A; p.R527H; 3:38009298-38009298

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1580G>A; p.R527H; 3:38009298-38009298

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1724T>G; p.V575G; 3:38008636-38008636

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1790G>A; p.G597E; 3:38008570-38008570

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1790G>A; p.G597E; 3:38008570-38008570

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1411G>T; p.E471*; 3:38009688-38009688

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Nonsense

c.83T>A; p.L28H; 3:38020304-38020304

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1944G>T; p.K648N; 3:38008326-38008326

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1944G>T; p.K648N; 3:38008326-38008326

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1159C>T; p.L387L; 3:38010032-38010032

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1110C>T; p.L370L; 3:38010158-38010158

 breastcarcinomaSubstitution - coding silent

c.529G>A; p.D177N; 3:38011573-38011573

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.63G>A; p.A21A; 3:38020324-38020324

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.239G>A; p.R80H; 3:38016680-38016680

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2166C>A; p.P722P; 3:38008033-38008033

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1554C>T; p.Y518Y; 3:38009324-38009324

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.918G>T; p.L306L; 3:38010435-38010435

 livercarcinomaSubstitution - coding silent

c.1677C>A; p.S559S; 3:38009088-38009088

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.829A>G; p.M277V; 3:38010524-38010524

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.781A>T; p.S261C; 3:38011223-38011223

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.781A>T; p.S261C; 3:38011223-38011223

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.729G>T; p.E243D; 3:38011275-38011275

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.584C>A; p.S195Y; 3:38011420-38011420

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.117G>A; p.E39E; 3:38020270-38020270

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.178C>T; p.R60W; 3:38020209-38020209

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.178C>T; p.R60W; 3:38020209-38020209

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.178C>T; p.R60W; 3:38020209-38020209

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1565_1566CC>TT; p.S522F; 3:38009312-38009313

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595G>A; p.E199K; 3:38011409-38011409

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1545G>T; p.Q515H; 3:38009333-38009333

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1332delG; p.L445fs*29; 3:38009767-38009767

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2008C>T; p.R670C; 3:38008262-38008262

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.755T>C; p.L252P; 3:38011249-38011249

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1675T>G; p.S559A; 3:38009090-38009090

 skinmalignant_melanomaSubstitution - Missense

c.1726G>T; p.A576S; 3:38008634-38008634

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.875G>A; p.R292H; 3:38010478-38010478

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2192G>A; p.R731H; 3:38007852-38007852

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2176C>A; p.L726I; 3:38008023-38008023

 thyroidother; neoplasmSubstitution - Missense

c.1146delC; p.Y383fs*18; 3:38010045-38010045

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1220C>A; p.A407D; 3:38009971-38009971

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1946A>T; p.N649I; 3:38008324-38008324

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1711G>T; p.G571C; 3:38009054-38009054

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.499A>G; p.N167D; 3:38011603-38011603

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.182C>T; p.T61I; 3:38020205-38020205

 skinmalignant_melanomaSubstitution - Missense

c.2234C>G; p.S745*; 3:38007810-38007810

 breastcarcinomaSubstitution - Nonsense

c.642C>T; p.I214I; 3:38011362-38011362

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.691G>A; p.D231N; 3:38011313-38011313

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.642C>T; p.I214I; 3:38011362-38011362

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.642C>T; p.I214I; 3:38011362-38011362

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.642C>T; p.I214I; 3:38011362-38011362

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.746C>T; p.A249V; 3:38011258-38011258

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1521C>A; p.F507L; 3:38009357-38009357

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.531C>T; p.D177D; 3:38011571-38011571

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.61G>A; p.A21T; 3:38020326-38020326

 skinmalignant_melanomaSubstitution - Missense

c.1816G>A; p.A606T; 3:38008544-38008544

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1368C>T; p.A456A; 3:38009731-38009731

 skinmalignant_melanomaSubstitution - coding silent

c.1389C>T; p.D463D; 3:38009710-38009710

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1183C>G; p.L395V; 3:38010008-38010008

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1426C>T; p.R476C; 3:38009673-38009673

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.391C>A; p.H131N; 3:38016528-38016528

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1788C>T; p.N596N; 3:38008572-38008572

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1339C>G; p.P447A; 3:38009760-38009760

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1339C>G; p.P447A; 3:38009760-38009760

 livercarcinomaSubstitution - Missense

c.1105G>T; p.V369L; 3:38010163-38010163

 thyroidother; neoplasmSubstitution - Missense

c.1390G>A; p.E464K; 3:38009709-38009709

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1563G>A; p.A521A; 3:38009315-38009315

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.262G>A; p.A88T; 3:38016657-38016657

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.1883G>A; p.R628Q; 3:38008477-38008477

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1499A>C; p.K500T; 3:38009379-38009379

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1253_1264del12; p.L418_T422>P; 3:38009927-38009938

 breastcarcinomaComplex - deletion inframe

c.676G>A; p.E226K; 3:38011328-38011328

 skinmalignant_melanomaSubstitution - Missense

c.118C>T; p.R40C; 3:38020269-38020269

 breastcarcinomaSubstitution - Missense

c.2116G>T; p.D706Y; 3:38008083-38008083

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1383C>T; p.D461D; 3:38009716-38009716

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1910C>T; p.S637L; 3:38008360-38008360

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2136G>T; p.K712N; 3:38008063-38008063

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1169A>G; p.E390G; 3:38010022-38010022

 pancreascarcinomaSubstitution - Missense

c.1169A>G; p.E390G; 3:38010022-38010022

 pancreascarcinomaSubstitution - Missense

c.1169A>G; p.E390G; 3:38010022-38010022

 pancreascarcinomaSubstitution - Missense

c.1169A>G; p.E390G; 3:38010022-38010022

 pancreascarcinomaSubstitution - Missense

c.35G>A; p.G12D; 3:38020352-38020352

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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