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

Basic Information

Gene ID

5729

Name

PTGDR

Synonymous

prostaglandin D2 receptor (DP);PTGDR;prostaglandin D2 receptor (DP)

Definition

PGD2 receptor|prostaglandin D2 receptor

Position

14q22.1

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 0.22.

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.1017C>A; p.F339L; 14:52274901-52274901

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.890A>C; p.N297T; 14:52274774-52274774

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.787C>T; p.H263Y; 14:52268601-52268601

 skinmalignant_melanomaSubstitution - Missense

c.369C>T; p.L123L; 14:52268183-52268183

 skinmalignant_melanomaSubstitution - coding silent

c.131C>A; p.S44*; 14:52267945-52267945

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.357G>A; p.S119S; 14:52268171-52268171

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.391T>C; p.W131R; 14:52268205-52268205

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.494C>T; p.A165V; 14:52268308-52268308

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.256G>A; p.A86T; 14:52268070-52268070

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.749G>A; p.G250E; 14:52268563-52268563

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.362T>G; p.L121R; 14:52268176-52268176

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.471C>T; p.S157S; 14:52268285-52268285

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.49G>A; p.G17S; 14:52267863-52267863

 skinmalignant_melanomaSubstitution - Missense

c.308C>T; p.S103L; 14:52268122-52268122

 skinmalignant_melanomaSubstitution - Missense

c.731C>T; p.A244V; 14:52268545-52268545

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.167C>T; p.P56L; 14:52267981-52267981

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.155G>A; p.R52H; 14:52267969-52267969

 oesophaguscarcinomaSubstitution - Missense

c.1027C>T; p.L343F; 14:52274911-52274911

 skinmalignant_melanomaSubstitution - Missense

c.392G>T; p.W131L; 14:52268206-52268206

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.928C>T; p.R310*; 14:52274812-52274812

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.747C>T; p.D249D; 14:52268561-52268561

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.747C>T; p.D249D; 14:52268561-52268561

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.503T>A; p.F168Y; 14:52268317-52268317

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.151C>T; p.R51W; 14:52267965-52267965

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.770C>T; p.P257L; 14:52268584-52268584

 skinmalignant_melanomaSubstitution - Missense

c.853G>C; p.A285P; 14:52274737-52274737

 skinmalignant_melanomaSubstitution - Missense

c.1017C>T; p.F339F; 14:52274901-52274901

 skinmalignant_melanomaSubstitution - coding silent

c.748G>A; p.G250R; 14:52268562-52268562

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1050C>G; p.S350R; 14:52274934-52274934

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.852C>T; p.R284R; 14:52274736-52274736

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.711C>A; p.R237R; 14:52268525-52268525

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.568G>A; p.E190K; 14:52268382-52268382

 skinmalignant_melanomaSubstitution - Missense

c.677A>G; p.Y226C; 14:52268491-52268491

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.394C>T; p.L132F; 14:52268208-52268208

 skinmalignant_melanomaSubstitution - Missense

c.673C>A; p.L225I; 14:52268487-52268487

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.174C>T; p.P58P; 14:52267988-52267988

 skinmalignant_melanomaSubstitution - coding silent

c.663C>T; p.A221A; 14:52268477-52268477

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.633C>T; p.V211V; 14:52268447-52268447

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.532T>G; p.C178G; 14:52268346-52268346

 breastcarcinomaSubstitution - Missense

c.733G>T; p.E245*; 14:52268547-52268547

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.753G>A; p.R251R; 14:52268567-52268567

 skinmalignant_melanomaSubstitution - coding silent

c.240C>A; p.S80R; 14:52268054-52268054

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.766C>T; p.Q256*; 14:52268580-52268580

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.495G>A; p.A165A; 14:52268309-52268309

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.689G>A; p.R230Q; 14:52268503-52268503

 pancreascarcinomaSubstitution - Missense

c.352T>C; p.S118P; 14:52268166-52268166

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.439C>T; p.R147C; 14:52268253-52268253

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.352T>C; p.S118P; 14:52268166-52268166

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.69C>A; p.G23G; 14:52267883-52267883

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.737C>A; p.P246Q; 14:52268551-52268551

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1041C>T; p.S347S; 14:52274925-52274925

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.919C>T; p.R307*; 14:52274803-52274803

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.316C>T; p.Q106*; 14:52268130-52268130

 skinmalignant_melanomaSubstitution - Nonsense

c.925T>C; p.L309L; 14:52274809-52274809

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.35C>A; p.T12N; 14:52267849-52267849

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.258C>T; p.A86A; 14:52268072-52268072

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.258C>T; p.A86A; 14:52268072-52268072

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.833C>T; p.S278F; 14:52268647-52268647

 skinmalignant_melanomaSubstitution - Missense

c.747C>A; p.D249E; 14:52268561-52268561

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.570G>A; p.E190E; 14:52268384-52268384

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.464T>A; p.V155E; 14:52268278-52268278

 pancreascarcinomaSubstitution - Missense

c.994C>T; p.R332W; 14:52274878-52274878

 breastcarcinomaSubstitution - Missense

c.356C>G; p.S119W; 14:52268170-52268170

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.471C>A; p.S157R; 14:52268285-52268285

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.227A>G; p.K76R; 14:52268041-52268041

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.471C>A; p.S157R; 14:52268285-52268285

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.807G>T; p.L269L; 14:52268621-52268621

 livercarcinomaSubstitution - coding silent

c.676T>C; p.Y226H; 14:52268490-52268490

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.995G>T; p.R332L; 14:52274879-52274879

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.18C>A; p.Y6*; 14:52267832-52267832

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.596A>G; p.Y199C; 14:52268410-52268410

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.361C>A; p.L121M; 14:52268175-52268175

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.281G>T; p.R94L; 14:52268095-52268095

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.325G>A; p.A109T; 14:52268139-52268139

 prostatecarcinomaSubstitution - Missense

c.762C>T; p.S254S; 14:52268576-52268576

 skinmalignant_melanomaSubstitution - coding silent

c.799C>A; p.L267M; 14:52268613-52268613

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.483G>T; p.L161L; 14:52268297-52268297

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.739C>T; p.R247C; 14:52268553-52268553

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.568G>T; p.E190*; 14:52268382-52268382

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.799C>T; p.L267L; 14:52268613-52268613

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.336G>A; p.M112I; 14:52268150-52268150

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.729T>C; p.C243C; 14:52268543-52268543

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.651C>A; p.C217*; 14:52268465-52268465

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.959C>A; p.P320H; 14:52274843-52274843

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.535C>A; p.P179T; 14:52268349-52268349

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.929G>A; p.R310Q; 14:52274813-52274813

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.929G>A; p.R310Q; 14:52274813-52274813

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.874G>A; p.D292N; 14:52274758-52274758

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1067A>G; p.E356G; 14:52274951-52274951

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.934C>A; p.L312I; 14:52274818-52274818

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.334A>G; p.M112V; 14:52268148-52268148

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.942G>C; p.V314V; 14:52274826-52274826

 breastcarcinomaSubstitution - coding silent

c.851G>A; p.R284H; 14:52274735-52274735

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.392G>A; p.W131*; 14:52268206-52268206

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.392G>A; p.W131*; 14:52268206-52268206

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.392G>A; p.W131*; 14:52268206-52268206

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.612C>T; p.S204S; 14:52268426-52268426

 breastcarcinomaSubstitution - coding silent

c.392G>A; p.W131*; 14:52268206-52268206

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.428A>C; p.H143P; 14:52268242-52268242

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.661G>A; p.A221T; 14:52268475-52268475

 oesophaguscarcinomaSubstitution - Missense

c.242C>T; p.P81L; 14:52268056-52268056

 pancreascarcinomaSubstitution - Missense

c.238A>G; p.S80G; 14:52268052-52268052

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.242C>T; p.P81L; 14:52268056-52268056

 pancreascarcinomaSubstitution - Missense

c.850C>T; p.R284C; 14:52274734-52274734

 skinmalignant_melanomaSubstitution - Missense

c.743C>T; p.A248V; 14:52268557-52268557

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.873G>T; p.K291N; 14:52274757-52274757

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.145T>G; p.C49G; 14:52267959-52267959

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.157C>T; p.P53S; 14:52267971-52267971

 skinmalignant_melanomaSubstitution - Missense

c.330C>A; p.F110L; 14:52268144-52268144

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.522C>A; p.F174L; 14:52268336-52268336

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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