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

Basic Information

Gene ID

185

Name

AGTR1

Synonymous

angiotensin II receptor, type 1;AGTR1;angiotensin II receptor, type 1

Definition

type-1 angiotensin II receptor|type-1B angiotensin II receptor

Position

3q24

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 0.08.

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.983C>T; p.S328L; 3:148742018-148742018

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.974A>G; p.K325R; 3:148742009-148742009

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.306G>T; p.K102N; 3:148741341-148741341

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.409C>T; p.R137C; 3:148741444-148741444

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.306G>T; p.K102N; 3:148741341-148741341

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.487G>A; p.A163T; 3:148741522-148741522

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.487G>A; p.A163T; 3:148741522-148741522

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.850A>G; p.M284V; 3:148741885-148741885

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.552T>C; p.Y184Y; 3:148741587-148741587

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.232T>G; p.L78V; 3:148741267-148741267

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.415C>T; p.R139*; 3:148741450-148741450

 skinmalignant_melanomaSubstitution - Nonsense

c.415C>T; p.R139*; 3:148741450-148741450

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.667A>G; p.K223E; 3:148741702-148741702

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.240T>G; p.T80T; 3:148741275-148741275

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.920A>C; p.K307T; 3:148741955-148741955

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.963_964CC>TT; p.P322S; 3:148741998-148741999

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.607G>A; p.G203S; 3:148741642-148741642

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.586G>T; p.G196C; 3:148741621-148741621

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.728T>C; p.M243T; 3:148741763-148741763

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.784C>A; p.L262M; 3:148741819-148741819

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.590T>G; p.L197R; 3:148741625-148741625

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.873T>G; p.A291A; 3:148741908-148741908

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.349T>C; p.F117L; 3:148741384-148741384

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.873T>G; p.A291A; 3:148741908-148741908

 livercarcinomaSubstitution - coding silent

c.647C>T; p.T216I; 3:148741682-148741682

 skinmalignant_melanomaSubstitution - Missense

c.709G>A; p.D237N; 3:148741744-148741744

 skinmalignant_melanomaSubstitution - Missense

c.212C>A; p.A71E; 3:148741247-148741247

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.500G>A; p.R167Q; 3:148741535-148741535

 skin; trunkmalignant_melanomaSubstitution - Missense

c.500G>A; p.R167Q; 3:148741535-148741535

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.613C>A; p.L205M; 3:148741648-148741648

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.500G>A; p.R167Q; 3:148741535-148741535

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.500G>A; p.R167Q; 3:148741535-148741535

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.740T>C; p.L247P; 3:148741775-148741775

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.500G>A; p.R167Q; 3:148741535-148741535

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.133G>A; p.G45R; 3:148741168-148741168

 skinmalignant_melanomaSubstitution - Missense

c.753T>A; p.F251L; 3:148741788-148741788

 skinmalignant_melanomaSubstitution - Missense

c.713delT; p.F239fs*3; 3:148741748-148741748

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.923A>C; p.K308T; 3:148741958-148741958

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.923A>C; p.K308T; 3:148741958-148741958

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.923A>C; p.K308T; 3:148741958-148741958

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.569C>A; p.T190N; 3:148741604-148741604

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.252G>T; p.W84C; 3:148741287-148741287

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.750C>G; p.F250L; 3:148741785-148741785

 breastcarcinomaSubstitution - Missense

c.702A>G; p.R234R; 3:148741737-148741737

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.778A>G; p.T260A; 3:148741813-148741813

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1007_1008CG>TT; p.T336>?; 3:148742042-148742043

 lungcarcinoma; small_cell_carcinomaComplex

c.171G>A; p.M57I; 3:148741206-148741206

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.513C>G; p.F171L; 3:148741548-148741548

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.814C>T; p.R272C; 3:148741849-148741849

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.535G>T; p.V179F; 3:148741570-148741570

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.42C>A; p.I14I; 3:148741077-148741077

 pancreascarcinomaSubstitution - coding silent

c.109A>G; p.I37V; 3:148741144-148741144

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.62C>T; p.A21V; 3:148741097-148741097

 haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; marginal_zone_lymphomaSubstitution - Missense

c.570C>T; p.T190T; 3:148741605-148741605

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.377G>A; p.R126Q; 3:148741412-148741412

 breastcarcinomaSubstitution - Missense

c.377G>A; p.R126Q; 3:148741412-148741412

 skinmalignant_melanomaSubstitution - Missense

c.377G>A; p.R126Q; 3:148741412-148741412

 skinmalignant_melanomaSubstitution - Missense

c.634C>A; p.L212I; 3:148741669-148741669

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.46G>C; p.D16H; 3:148741081-148741081

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.829G>A; p.A277T; 3:148741864-148741864

 skinmalignant_melanomaSubstitution - Missense

c.74A>C; p.N25T; 3:148741109-148741109

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1017C>A; p.Y339*; 3:148742052-148742052

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.587G>T; p.G196V; 3:148741622-148741622

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.385G>T; p.A129S; 3:148741420-148741420

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.418C>T; p.R140C; 3:148741453-148741453

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.418C>T; p.R140C; 3:148741453-148741453

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.418C>T; p.R140C; 3:148741453-148741453

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1002G>A; p.M334I; 3:148742037-148742037

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.988C>T; p.L330F; 3:148742023-148742023

 skinmalignant_melanomaSubstitution - Missense

c.422C>A; p.T141K; 3:148741457-148741457

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.943C>T; p.Q315*; 3:148741978-148741978

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.739C>T; p.L247F; 3:148741774-148741774

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.938T>G; p.F313C; 3:148741973-148741973

 skinmalignant_melanomaSubstitution - Missense

c.739C>A; p.L247I; 3:148741774-148741774

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.916G>T; p.G306W; 3:148741951-148741951

 breastcarcinomaSubstitution - Missense

c.111C>A; p.I37I; 3:148741146-148741146

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.918G>A; p.G306G; 3:148741953-148741953

 skinmalignant_melanomaSubstitution - coding silent

c.918G>A; p.G306G; 3:148741953-148741953

 skinmalignant_melanomaSubstitution - coding silent

c.211G>A; p.A71T; 3:148741246-148741246

 livercarcinomaSubstitution - Missense

c.302G>A; p.C101Y; 3:148741337-148741337

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.674C>G; p.A225G; 3:148741709-148741709

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.932G>T; p.R311I; 3:148741967-148741967

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.673G>A; p.A225T; 3:148741708-148741708

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.868A>C; p.I290L; 3:148741903-148741903

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.580G>A; p.G194R; 3:148741615-148741615

 skinmalignant_melanomaSubstitution - Missense

c.847G>A; p.A283T; 3:148741882-148741882

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.604C>A; p.L202M; 3:148741639-148741639

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.750C>T; p.F250F; 3:148741785-148741785

 skinmalignant_melanomaSubstitution - coding silent

c.701G>T; p.R234I; 3:148741736-148741736

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.595delA; p.N200fs*10; 3:148741630-148741630

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.567A>G; p.S189S; 3:148741602-148741602

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.633T>G; p.I211M; 3:148741668-148741668

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.738G>A; p.V246V; 3:148741773-148741773

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.738G>A; p.V246V; 3:148741773-148741773

 livercarcinomaSubstitution - coding silent

c.1062A>G; p.P354P; 3:148742097-148742097

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.419G>A; p.R140H; 3:148741454-148741454

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.719A>C; p.K240T; 3:148741754-148741754

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.394C>A; p.H132N; 3:148741429-148741429

 lungcarcinomaSubstitution - Missense

c.971C>T; p.A324V; 3:148742006-148742006

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.495C>G; p.I165M; 3:148741530-148741530

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.513C>T; p.F171F; 3:148741548-148741548

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.380A>G; p.Y127C; 3:148741415-148741415

 breastcarcinomaSubstitution - Missense

c.134G>C; p.G45A; 3:148741169-148741169

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.573C>T; p.L191L; 3:148741608-148741608

 thyroidother; neoplasmSubstitution - coding silent

c.394C>T; p.H132Y; 3:148741429-148741429

 skinmalignant_melanomaSubstitution - Missense

c.575C>A; p.P192Q; 3:148741610-148741610

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.476C>T; p.A159V; 3:148741511-148741511

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.576G>A; p.P192P; 3:148741611-148741611

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.140G>A; p.S47N; 3:148741175-148741175

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.576G>A; p.P192P; 3:148741611-148741611

 skinmalignant_melanomaSubstitution - coding silent

c.766C>A; p.H256N; 3:148741801-148741801

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.657G>T; p.W219C; 3:148741692-148741692

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.125G>A; p.G42E; 3:148741160-148741160

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.359C>A; p.T120K; 3:148741394-148741394

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.899T>C; p.L300P; 3:148741934-148741934

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.899T>C; p.L300P; 3:148741934-148741934

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1027G>T; p.D343Y; 3:148742062-148742062

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.322G>A; p.V108I; 3:148741357-148741357

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1038C>T; p.S346S; 3:148742073-148742073

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1018C>T; p.R340C; 3:148742053-148742053

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.23A>G; p.E8G; 3:148741058-148741058

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.439G>T; p.V147F; 3:148741474-148741474

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.496C>T; p.H166Y; 3:148741531-148741531

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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