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

Basic Information

Gene ID

5157

Name

PDGFRL

Synonymous

platelet-derived growth factor receptor-like;PDGFRL;platelet-derived growth factor receptor-like

Definition

PDGF receptor beta-like tumor suppressor|PDGFR-like protein|platelet-derived growth factor receptor-like protein|platelet-derived growth factor-beta-like tumor suppressor

Position

8p22-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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.00.

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.544G>A; p.D182N; 8:17628525-17628525

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.275T>C; p.V92A; 8:17589687-17589687

 skinmalignant_melanomaSubstitution - Missense

c.353+1G>A; p.?; 8:17589766-17589766

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.129G>A; p.K43K; 8:17589541-17589541

 skinmalignant_melanomaSubstitution - coding silent

c.940-3C>T; p.?; 8:17642610-17642610

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.745G>C; p.E249Q; 8:17628726-17628726

 bone; femurchondrosarcomaSubstitution - Missense

c.632T>C; p.F211S; 8:17628613-17628613

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.315C>T; p.Y105Y; 8:17589727-17589727

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.798G>A; p.A266A; 8:17628779-17628779

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.607G>A; p.A203T; 8:17628588-17628588

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.543C>T; p.F181F; 8:17628524-17628524

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.217G>A; p.D73N; 8:17589629-17589629

 skinmalignant_melanomaSubstitution - Missense

c.237A>C; p.K79N; 8:17589649-17589649

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.237A>C; p.K79N; 8:17589649-17589649

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.237A>C; p.K79N; 8:17589649-17589649

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.667A>G; p.I223V; 8:17628648-17628648

 central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Missense

c.237A>C; p.K79N; 8:17589649-17589649

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.237A>C; p.K79N; 8:17589649-17589649

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.237A>C; p.K79N; 8:17589649-17589649

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.237A>C; p.K79N; 8:17589649-17589649

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.237A>C; p.K79N; 8:17589649-17589649

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.237A>C; p.K79N; 8:17589649-17589649

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.152A>T; p.K51I; 8:17589564-17589564

 skinmalignant_melanomaSubstitution - Missense

c.334T>G; p.F112V; 8:17589746-17589746

 haematopoietic_and_lymphoid_tissue; tonsillymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.558G>C; p.L186F; 8:17628539-17628539

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.705A>G; p.Q235Q; 8:17628686-17628686

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.227G>A; p.R76H; 8:17589639-17589639

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.227G>A; p.R76H; 8:17589639-17589639

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.328G>T; p.D110Y; 8:17589740-17589740

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.343T>G; p.S115A; 8:17589755-17589755

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.173C>T; p.A58V; 8:17589585-17589585

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.85C>T; p.R29C; 8:17589497-17589497

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.518T>C; p.L173P; 8:17628499-17628499

 breastcarcinomaSubstitution - Missense

c.635C>T; p.P212L; 8:17628616-17628616

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.148C>T; p.P50S; 8:17589560-17589560

 skinmalignant_melanomaSubstitution - Missense

c.148C>T; p.P50S; 8:17589560-17589560

 skinmalignant_melanomaSubstitution - Missense

c.828C>T; p.I276I; 8:17634102-17634102

 skinmalignant_melanomaSubstitution - coding silent

c.333C>A; p.T111T; 8:17589745-17589745

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.333C>A; p.T111T; 8:17589745-17589745

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.148C>T; p.P50S; 8:17589560-17589560

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.149C>T; p.P50L; 8:17589561-17589561

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.45G>T; p.A15A; 8:17577297-17577297

 ovaryother; neoplasmSubstitution - coding silent

c.93A>G; p.K31K; 8:17589505-17589505

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.3G>C; p.M1I; 8:17577255-17577255

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.730G>A; p.V244I; 8:17628711-17628711

 skinmalignant_melanomaSubstitution - Missense

c.395A>G; p.N132S; 8:17621092-17621092

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.463A>G; p.K155E; 8:17621160-17621160

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.519C>T; p.L173L; 8:17628500-17628500

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.184C>T; p.P62S; 8:17589596-17589596

 skinmalignant_melanomaSubstitution - Missense

c.755G>A; p.G252D; 8:17628736-17628736

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1041T>C; p.F347F; 8:17642714-17642714

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.119C>G; p.P40R; 8:17589531-17589531

 bone; humeruschondrosarcomaSubstitution - Missense

c.921G>A; p.W307*; 8:17634195-17634195

 skinmalignant_melanomaSubstitution - Nonsense

c.174C>A; p.A58A; 8:17589586-17589586

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.105G>A; p.E35E; 8:17589517-17589517

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.598G>A; p.V200M; 8:17628579-17628579

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.320C>T; p.A107V; 8:17589732-17589732

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.957G>A; p.T319T; 8:17642630-17642630

 skinmalignant_melanomaSubstitution - coding silent

c.466G>A; p.D156N; 8:17621163-17621163

 livercarcinomaSubstitution - Missense

c.466G>A; p.D156N; 8:17621163-17621163

 skinmalignant_melanomaSubstitution - Missense

c.466G>A; p.D156N; 8:17621163-17621163

 livercarcinomaSubstitution - Missense

c.744G>A; p.A248A; 8:17628725-17628725

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.499T>G; p.F167V; 8:17621196-17621196

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.784C>T; p.L262L; 8:17628765-17628765

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.86G>A; p.R29H; 8:17589498-17589498

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.589C>G; p.R197G; 8:17628570-17628570

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.939+8T>G; p.?; 8:17634221-17634221

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.548T>C; p.V183A; 8:17628529-17628529

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.59C>T; p.T20I; 8:17589471-17589471

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.626G>A; p.R209K; 8:17628607-17628607

 skinmalignant_melanomaSubstitution - Missense

c.542T>C; p.F181S; 8:17628523-17628523

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.752G>A; p.G251E; 8:17628733-17628733

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.89C>T; p.P30L; 8:17589501-17589501

 skinmalignant_melanomaSubstitution - Missense

c.91A>G; p.K31E; 8:17589503-17589503

 central_nervous_system; braingliomaSubstitution - Missense

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