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

Basic Information

Gene ID

9447

Name

AIM2

Synonymous

absent in melanoma 2;AIM2;absent in melanoma 2

Definition

interferon-inducible protein AIM2

Position

1q22

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 0.23.

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.420_421CC>AA; p.Q141K; 1:159066305-159066306

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.593A>G; p.K198R; 1:159066133-159066133

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.998C>G; p.T333S; 1:159063493-159063493

 pancreascarcinomaSubstitution - Missense

c.998C>G; p.T333S; 1:159063493-159063493

 pancreascarcinomaSubstitution - Missense

c.998C>G; p.T333S; 1:159063493-159063493

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.998C>G; p.T333S; 1:159063493-159063493

 pancreascarcinomaSubstitution - Missense

c.831G>C; p.K277N; 1:159063660-159063660

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.281C>T; p.S94L; 1:159068683-159068683

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.729C>T; p.I243I; 1:159065997-159065997

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - coding silent

c.85C>A; p.L29I; 1:159073415-159073415

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.603C>A; p.F201L; 1:159066123-159066123

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.165T>G; p.N55K; 1:159073335-159073335

 kidneyother; neoplasmSubstitution - Missense

c.763C>T; p.L255F; 1:159065963-159065963

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.749C>T; p.P250L; 1:159065977-159065977

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.72G>A; p.R24R; 1:159073428-159073428

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.309A>C; p.Q103H; 1:159068655-159068655

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.778C>G; p.L260V; 1:159065948-159065948

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.446T>G; p.F149C; 1:159066280-159066280

 pancreasNSSubstitution - Missense

c.446T>G; p.F149C; 1:159066280-159066280

 pancreascarcinomaSubstitution - Missense

c.555G>A; p.K185K; 1:159066171-159066171

 skinmalignant_melanomaSubstitution - coding silent

c.114C>T; p.G38G; 1:159073386-159073386

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.475C>A; p.L159M; 1:159066251-159066251

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.6G>C; p.E2D; 1:159073494-159073494

 livercarcinomaSubstitution - Missense

c.6G>C; p.E2D; 1:159073494-159073494

 livercarcinomaSubstitution - Missense

c.836delA; p.N279fs*6; 1:159063655-159063655

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.364C>T; p.R122C; 1:159068600-159068600

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.895G>A; p.E299K; 1:159063596-159063596

 skinmalignant_melanomaSubstitution - Missense

c.170G>T; p.G57V; 1:159073330-159073330

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1006G>T; p.V336F; 1:159062718-159062718

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.961G>A; p.G321R; 1:159063530-159063530

 skinmalignant_melanomaSubstitution - Missense

c.173C>T; p.A58V; 1:159073327-159073327

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.612G>A; p.K204K; 1:159066114-159066114

 skinmalignant_melanomaSubstitution - coding silent

c.439G>C; p.E147Q; 1:159066287-159066287

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.267T>A; p.D89E; 1:159068697-159068697

 skinmalignant_melanomaSubstitution - Missense

c.1027_1028insA; p.T343fs*>2; 1:159062696-159062697

 stomachcarcinoma; diffuse_adenocarcinomaInsertion - Frameshift

c.640C>G; p.R214G; 1:159066086-159066086

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1027_1028insA; p.T343fs*>2; 1:159062696-159062697

 central_nervous_system; thalamusglioma; astrocytoma_Grade_IVInsertion - Frameshift

c.94G>T; p.E32*; 1:159073406-159073406

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.550G>T; p.E184*; 1:159066176-159066176

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.717G>T; p.P239P; 1:159066009-159066009

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.666T>C; p.N222N; 1:159066060-159066060

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1026_1027delAA; p.K342fs*>2; 1:159062697-159062698

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1026_1027delAA; p.K342fs*>2; 1:159062697-159062698

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1026_1027delAA; p.K342fs*>2; 1:159062697-159062698

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.100A>G; p.N34D; 1:159073400-159073400

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.841T>G; p.L281V; 1:159063650-159063650

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.19G>A; p.E7K; 1:159073481-159073481

 skinmalignant_melanomaSubstitution - Missense

c.677G>A; p.R226H; 1:159066049-159066049

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.612G>C; p.K204N; 1:159066114-159066114

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.205T>A; p.F69I; 1:159073295-159073295

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.410A>G; p.Q137R; 1:159066316-159066316

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.410A>G; p.Q137R; 1:159066316-159066316

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.949C>A; p.L317M; 1:159063542-159063542

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.689C>A; p.A230D; 1:159066037-159066037

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.556G>A; p.E186K; 1:159066170-159066170

 skinmalignant_melanomaSubstitution - Missense

c.556G>A; p.E186K; 1:159066170-159066170

 skinmalignant_melanomaSubstitution - Missense

c.942C>A; p.F314L; 1:159063549-159063549

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.590T>C; p.L197P; 1:159066136-159066136

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.421C>A; p.Q141K; 1:159066305-159066305

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.670G>A; p.A224T; 1:159066056-159066056

 large_intestine; colonadenomaSubstitution - Missense

c.25C>A; p.L9I; 1:159073475-159073475

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.641G>A; p.R214Q; 1:159066085-159066085

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.525G>T; p.E175D; 1:159066201-159066201

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.828G>T; p.K276N; 1:159063663-159063663

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.199C>G; p.R67G; 1:159073301-159073301

 breastcarcinomaSubstitution - Missense

c.175G>T; p.V59L; 1:159073325-159073325

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.491C>G; p.P164R; 1:159066235-159066235

 eye; uveal_tractmalignant_melanoma; spindleSubstitution - Missense

c.726T>A; p.I242I; 1:159066000-159066000

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.575T>G; p.V192G; 1:159066151-159066151

 skinmalignant_melanomaSubstitution - Missense

c.548C>A; p.T183K; 1:159066178-159066178

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.113G>A; p.G38D; 1:159073387-159073387

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.395A>T; p.K132M; 1:159068569-159068569

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.980C>T; p.T327I; 1:159063511-159063511

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.204T>A; p.I68I; 1:159073296-159073296

 skinmalignant_melanomaSubstitution - coding silent

c.919G>A; p.G307R; 1:159063572-159063572

 skinmalignant_melanomaSubstitution - Missense

c.409C>A; p.Q137K; 1:159066317-159066317

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.194C>T; p.T65I; 1:159073306-159073306

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.194C>T; p.T65I; 1:159073306-159073306

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.180T>C; p.S60S; 1:159073320-159073320

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.439G>T; p.E147*; 1:159066287-159066287

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.931C>T; p.R311*; 1:159063560-159063560

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.931C>T; p.R311*; 1:159063560-159063560

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.52A>T; p.T18S; 1:159073448-159073448

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.389A>G; p.H130R; 1:159068575-159068575

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.545C>A; p.A182D; 1:159066181-159066181

 breastcarcinomaSubstitution - Missense

c.411G>T; p.Q137H; 1:159066315-159066315

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.958A>C; p.N320H; 1:159063533-159063533

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1027delA; p.T343fs?; 1:159062697-159062697

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.1027delA; p.T343fs?; 1:159062697-159062697

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1027delA; p.T343fs?; 1:159062697-159062697

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1027delA; p.T343fs?; 1:159062697-159062697

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1027A>C; p.T343P; 1:159062697-159062697

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1027delA; p.T343fs?; 1:159062697-159062697

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1027delA; p.T343fs?; 1:159062697-159062697

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1027delA; p.T343fs?; 1:159062697-159062697

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1027delA; p.T343fs?; 1:159062697-159062697

 stomachcarcinoma; diffuse_adenocarcinomaDeletion - Frameshift

c.1027delA; p.T343fs?; 1:159062697-159062697

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.199C>T; p.R67C; 1:159073301-159073301

 skinmalignant_melanomaSubstitution - Missense

c.1027delA; p.T343fs?; 1:159062697-159062697

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1027delA; p.T343fs?; 1:159062697-159062697

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1027delA; p.T343fs?; 1:159062697-159062697

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1027delA; p.T343fs?; 1:159062697-159062697

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.1027delA; p.T343fs?; 1:159062697-159062697

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1027delA; p.T343fs?; 1:159062697-159062697

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1027delA; p.T343fs?; 1:159062697-159062697

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.394A>C; p.K132Q; 1:159068570-159068570

 breastcarcinomaSubstitution - Missense

c.829A>G; p.K277E; 1:159063662-159063662

 skinmalignant_melanomaSubstitution - Missense

c.492C>A; p.P164P; 1:159066234-159066234

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.607C>A; p.P203T; 1:159066119-159066119

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.521A>C; p.Q174P; 1:159066205-159066205

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.521A>C; p.Q174P; 1:159066205-159066205

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.599A>C; p.K200T; 1:159066127-159066127

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.986G>T; p.G329V; 1:159063505-159063505

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.137T>A; p.I46K; 1:159073363-159073363

 pleurapulmonary_blastomaSubstitution - Missense

c.564C>T; p.F188F; 1:159066162-159066162

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1017C>A; p.A339A; 1:159062707-159062707

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.669C>T; p.S223S; 1:159066057-159066057

 central_nervous_system; braingliomaSubstitution - coding silent

c.15C>A; p.Y5*; 1:159073485-159073485

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.128C>T; p.A43V; 1:159073372-159073372

 breastcarcinomaSubstitution - Missense

c.984T>C; p.S328S; 1:159063507-159063507

 breastcarcinomaSubstitution - coding silent

c.477G>A; p.L159L; 1:159066249-159066249

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.477G>A; p.L159L; 1:159066249-159066249

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.189G>A; p.M63I; 1:159073311-159073311

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.51C>T; p.I17I; 1:159073449-159073449

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.959delA; p.N320fs*7; 1:159063532-159063532

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.959delA; p.N320fs*7; 1:159063532-159063532

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

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