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

Basic Information

Gene ID

3663

Name

IRF5

Synonymous

interferon regulatory factor 5;IRF5;interferon regulatory factor 5

Definition

-

Position

7q32

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 0.11.

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.216G>A; p.G72G; 7:128945865-128945865

 skinmalignant_melanomaSubstitution - coding silent

c.33A>C; p.P11P; 7:128942114-128942114

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.33A>C; p.P11P; 7:128942114-128942114

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.33A>C; p.P11P; 7:128942114-128942114

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.215G>A; p.G72E; 7:128945864-128945864

 skinmalignant_melanomaSubstitution - Missense

c.830G>A; p.G277D; 7:128947801-128947801

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1026C>T; p.A342A; 7:128947997-128947997

 skinmalignant_melanomaSubstitution - coding silent

c.209A>T; p.E70V; 7:128945858-128945858

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.271C>T; p.R91C; 7:128945920-128945920

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1189C>T; p.P397S; 7:128948248-128948248

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.121A>C; p.K41Q; 7:128942202-128942202

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1169A>G; p.K390R; 7:128948228-128948228

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.632G>A; p.G211D; 7:128947410-128947410

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1170G>A; p.K390K; 7:128948229-128948229

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.272G>A; p.R91H; 7:128945921-128945921

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.272G>A; p.R91H; 7:128945921-128945921

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.272G>A; p.R91H; 7:128945921-128945921

 pancreascarcinomaSubstitution - Missense

c.990G>A; p.G330G; 7:128947961-128947961

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.393_394insC; p.E134fs*1; 7:128946508-128946509

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.94G>T; p.G32W; 7:128942175-128942175

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.960G>A; p.T320T; 7:128947931-128947931

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.457A>T; p.M153L; 7:128947032-128947032

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.781C>T; p.Q261*; 7:128947752-128947752

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.769G>A; p.E257K; 7:128947740-128947740

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1121A>G; p.K374R; 7:128948092-128948092

 skinmalignant_melanomaSubstitution - Missense

c.376G>T; p.A126S; 7:128946025-128946025

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1116G>T; p.K372N; 7:128948087-128948087

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.651G>A; p.R217R; 7:128947429-128947429

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.804G>A; p.R268R; 7:128947775-128947775

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1434G>T; p.Q478H; 7:128948737-128948737

 thyroidcarcinomaSubstitution - Missense

c.1251G>A; p.K417K; 7:128948310-128948310

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1251G>A; p.K417K; 7:128948310-128948310

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.114G>A; p.G38G; 7:128942195-128942195

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.323G>A; p.R108Q; 7:128945972-128945972

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.829G>A; p.G277S; 7:128947800-128947800

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.61C>T; p.L21L; 7:128942142-128942142

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.802C>T; p.R268W; 7:128947773-128947773

 skinmalignant_melanomaSubstitution - Missense

c.1077C>A; p.A359A; 7:128948048-128948048

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1083C>T; p.D361D; 7:128948054-128948054

 breastcarcinomaSubstitution - coding silent

c.510A>G; p.T170T; 7:128947258-128947258

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1421A>G; p.Q474R; 7:128948724-128948724

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1248G>T; p.E416D; 7:128948307-128948307

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.950G>A; p.R317H; 7:128947921-128947921

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.354C>T; p.Y118Y; 7:128946003-128946003

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.273C>A; p.R91R; 7:128945922-128945922

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.136C>T; p.P46S; 7:128942217-128942217

 skinmalignant_melanomaSubstitution - Missense

c.1042T>C; p.C348R; 7:128948013-128948013

 livercarcinomaSubstitution - Missense

c.1042T>C; p.C348R; 7:128948013-128948013

 livercarcinomaSubstitution - Missense

c.543-1_571del30; p.?; 7:128947320-128947349

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.911G>A; p.R304H; 7:128947882-128947882

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.911G>A; p.R304H; 7:128947882-128947882

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.986G>A; p.R329H; 7:128947957-128947957

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.433G>A; p.E145K; 7:128946548-128946548

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.465A>T; p.P155P; 7:128947040-128947040

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.348G>C; p.K116N; 7:128945997-128945997

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 thyroidother; neoplasmSubstitution - coding silent

c.487G>A; p.V163M; 7:128947235-128947235

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 thyroidother; neoplasmSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; rectumNSSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.549T>C; p.P183P; 7:128947327-128947327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1235G>A; p.R412H; 7:128948294-128948294

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.825C>G; p.P275P; 7:128947796-128947796

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1495C>T; p.H499Y; 7:128948798-128948798

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; rectumNSUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 ovarycarcinoma; serous_carcinomaUnknown

c.543-1G>A; p.?; 7:128947320-128947320

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1234C>T; p.R412C; 7:128948293-128948293

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.1170G>T; p.K390N; 7:128948229-128948229

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.176G>A; p.G59E; 7:128942257-128942257

 skinmalignant_melanomaSubstitution - Missense

c.1244G>A; p.R415Q; 7:128948303-128948303

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.176G>A; p.G59E; 7:128942257-128942257

 skinmalignant_melanomaSubstitution - Missense

c.542+8_549del30; p.?; 7:128947298-128947327

 breastcarcinomaUnknown

c.542+8_549del30; p.?; 7:128947298-128947327

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaUnknown

c.542+8_549del30; p.?; 7:128947298-128947327

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.542+8_549del30; p.?; 7:128947298-128947327

 ovarycarcinoma; serous_carcinomaUnknown

c.542+8_549del30; p.?; 7:128947298-128947327

 ovarycarcinoma; serous_carcinomaUnknown

c.542+8_549del30; p.?; 7:128947298-128947327

 prostatecarcinoma; adenocarcinomaUnknown

c.542+8_549del30; p.?; 7:128947298-128947327

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaUnknown

c.542+8_549del30; p.?; 7:128947298-128947327

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.542+8_549del30; p.?; 7:128947298-128947327

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaUnknown

c.1030C>T; p.R344C; 7:128948001-128948001

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.564C>T; p.P188P; 7:128947342-128947342

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.700C>T; p.P234S; 7:128947478-128947478

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.28A>C; p.T10P; 7:128942109-128942109

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.28A>C; p.T10P; 7:128942109-128942109

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.793C>T; p.R265W; 7:128947764-128947764

 pancreascarcinomaSubstitution - Missense

c.1158_1159CC>TT; p.(=); 7:128948217-128948218

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1222G>A; p.E408K; 7:128948281-128948281

 skinmalignant_melanomaSubstitution - Missense

c.1507A>T; p.M503L; 7:128948810-128948810

 thyroidcarcinomaSubstitution - Missense

c.1222G>T; p.E408*; 7:128948281-128948281

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1302G>T; p.E434D; 7:128948605-128948605

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.41G>A; p.R14H; 7:128942122-128942122

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1254G>T; p.K418N; 7:128948313-128948313

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.198C>A; p.A66A; 7:128945847-128945847

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

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