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

Basic Information

Gene ID

7941

Name

PLA2G7

Synonymous

phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma);PLA2G7;phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)

Definition

1-alkyl-2-acetylglycerophosphocholine esterase|2-acetyl-1-alkylglycerophosphocholine esterase|LDL-PLA(2)|LDL-associated phospholipase A2|PAF 2-acylhydrolase|PAF acetylhydrolase|gVIIA-PLA2|group-VIIA phospholipase A2|lipoprotein-associated phospholipase A2

Position

6p21.2-p12

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 0.10.

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.1314G>A; p.E438E; 6:46704572-46704572

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.760G>A; p.D254N; 6:46710562-46710562

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.667C>A; p.R223R; 6:46710655-46710655

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.667C>A; p.R223R; 6:46710655-46710655

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.402G>A; p.W134*; 6:46714528-46714528

 skinmalignant_melanomaSubstitution - Nonsense

c.443T>C; p.V148A; 6:46714487-46714487

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.637G>T; p.E213*; 6:46711522-46711522

 skinmalignant_melanomaSubstitution - Nonsense

c.286C>A; p.L96I; 6:46716474-46716474

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.637G>T; p.E213*; 6:46711522-46711522

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.526G>A; p.A176T; 6:46712282-46712282

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.788A>T; p.D263V; 6:46709408-46709408

 skinmalignant_melanomaSubstitution - Missense

c.936G>A; p.Q312Q; 6:46708095-46708095

 skinmalignant_melanomaSubstitution - coding silent

c.1003T>C; p.Y335H; 6:46708028-46708028

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.593T>C; p.I198T; 6:46711566-46711566

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.143C>T; p.A48V; 6:46717063-46717063

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1139C>A; p.A380D; 6:46705203-46705203

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1307G>A; p.G436E; 6:46704579-46704579

 skinmalignant_melanomaSubstitution - Missense

c.412C>G; p.L138V; 6:46714518-46714518

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.285C>T; p.T95T; 6:46716475-46716475

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.412C>G; p.L138V; 6:46714518-46714518

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.698_699TC>AG; p.L233Q; 6:46710623-46710624

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.698_699TC>AG; p.L233Q; 6:46710623-46710624

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.951C>T; p.I317I; 6:46708080-46708080

 pancreascarcinomaSubstitution - coding silent

c.951C>T; p.I317I; 6:46708080-46708080

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.1326G>T; p.*442Y; 6:46704560-46704560

 endometriumcarcinoma; endometrioid_carcinomaNonstop extension

c.1A>T; p.M1L; 6:46722891-46722891

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1275C>A; p.T425T; 6:46704611-46704611

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1275C>A; p.T425T; 6:46704611-46704611

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.169C>T; p.P57S; 6:46717037-46717037

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.893G>A; p.W298*; 6:46708138-46708138

 skinmalignant_melanomaSubstitution - Nonsense

c.1305A>G; p.S435S; 6:46704581-46704581

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.252T>G; p.Y84*; 6:46716508-46716508

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.660G>A; p.E220E; 6:46711499-46711499

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.835G>T; p.V279F; 6:46709361-46709361

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.653G>A; p.R218Q; 6:46711506-46711506

 breastcarcinomaSubstitution - Missense

c.653G>A; p.R218Q; 6:46711506-46711506

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.653G>A; p.R218Q; 6:46711506-46711506

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.639G>A; p.E213E; 6:46711520-46711520

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.682G>T; p.E228*; 6:46710640-46710640

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1201G>C; p.D401H; 6:46704685-46704685

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.45C>T; p.C15C; 6:46722847-46722847

 livercarcinomaSubstitution - coding silent

c.45C>T; p.C15C; 6:46722847-46722847

 livercarcinomaSubstitution - coding silent

c.245G>A; p.R82H; 6:46716515-46716515

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1082C>G; p.T361S; 6:46705260-46705260

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1157A>C; p.K386T; 6:46705185-46705185

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1096G>A; p.G366R; 6:46705246-46705246

 skinmalignant_melanomaSubstitution - Missense

c.606T>A; p.S202S; 6:46711553-46711553

 ovaryother; neoplasmSubstitution - coding silent

c.1252C>A; p.P418T; 6:46704634-46704634

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.175G>A; p.G59R; 6:46717031-46717031

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.677C>A; p.A226E; 6:46710645-46710645

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.192C>T; p.S64S; 6:46717014-46717014

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.192C>T; p.S64S; 6:46717014-46717014

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.21T>A; p.H7Q; 6:46722871-46722871

 livercarcinomaSubstitution - Missense

c.1199A>C; p.K400T; 6:46704687-46704687

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.791G>T; p.R264M; 6:46709405-46709405

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.799delA; p.I267fs*1; 6:46709397-46709397

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.799delA; p.I267fs*1; 6:46709397-46709397

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.99G>A; p.M33I; 6:46722793-46722793

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1301C>A; p.S434Y; 6:46704585-46704585

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.705G>A; p.L235L; 6:46710617-46710617

 breastcarcinomaSubstitution - coding silent

c.705G>A; p.L235L; 6:46710617-46710617

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1301C>A; p.S434Y; 6:46704585-46704585

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.988A>C; p.K330Q; 6:46708043-46708043

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.738G>T; p.K246N; 6:46710584-46710584

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.738G>T; p.K246N; 6:46710584-46710584

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.388A>G; p.T130A; 6:46714542-46714542

 skinmalignant_melanomaSubstitution - Missense

c.823G>A; p.G275S; 6:46709373-46709373

 skinmalignant_melanomaSubstitution - Missense

c.1274C>A; p.T425N; 6:46704612-46704612

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.814C>T; p.H272Y; 6:46709382-46709382

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.274C>T; p.R92C; 6:46716486-46716486

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.170C>T; p.P57L; 6:46717036-46717036

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1237G>A; p.D413N; 6:46704649-46704649

 breastcarcinomaSubstitution - Missense

c.782C>T; p.S261F; 6:46709414-46709414

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.28T>G; p.F10V; 6:46722864-46722864

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.155G>C; p.G52A; 6:46717051-46717051

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.168C>T; p.I56I; 6:46717038-46717038

 skinmalignant_melanomaSubstitution - coding silent

c.802G>A; p.A268T; 6:46709394-46709394

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.766G>A; p.E256K; 6:46710556-46710556

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.766G>A; p.E256K; 6:46710556-46710556

 skinmalignant_melanomaSubstitution - Missense

c.124A>G; p.I42V; 6:46717082-46717082

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.124A>G; p.I42V; 6:46717082-46717082

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.187T>A; p.Y63N; 6:46717019-46717019

 breastcarcinomaSubstitution - Missense

c.275G>A; p.R92H; 6:46716485-46716485

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.275G>A; p.R92H; 6:46716485-46716485

 breastcarcinomaSubstitution - Missense

c.495T>C; p.I165I; 6:46712313-46712313

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.61C>T; p.P21S; 6:46722831-46722831

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.968A>C; p.Q323P; 6:46708063-46708063

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.451C>T; p.H151Y; 6:46714479-46714479

 skinmalignant_melanomaSubstitution - Missense

c.168C>A; p.I56I; 6:46717038-46717038

 soft_tissue; striated_musclerhabdoid_tumourSubstitution - coding silent

c.256C>G; p.P86A; 6:46716504-46716504

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.966C>T; p.F322F; 6:46708065-46708065

 skinmalignant_melanomaSubstitution - coding silent

c.491G>A; p.G164D; 6:46712317-46712317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1279C>A; p.Q427K; 6:46704607-46704607

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.104C>A; p.S35*; 6:46722788-46722788

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.833C>T; p.T278M; 6:46709363-46709363

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.782C>G; p.S261C; 6:46709414-46709414

 breastcarcinomaSubstitution - Missense

c.331C>A; p.L111I; 6:46716429-46716429

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.331C>A; p.L111I; 6:46716429-46716429

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.761A>G; p.D254G; 6:46710561-46710561

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.509A>G; p.H170R; 6:46712299-46712299

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.347T>C; p.L116P; 6:46716413-46716413

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.468C>A; p.F156L; 6:46714462-46714462

 skinmalignant_melanomaSubstitution - Missense

c.659A>G; p.E220G; 6:46711500-46711500

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.553T>C; p.S185P; 6:46711606-46711606

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.980A>C; p.N327T; 6:46708051-46708051

 skinmalignant_melanomaSubstitution - Missense

c.275G>T; p.R92L; 6:46716485-46716485

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

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