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

Basic Information

Gene ID

3659

Name

IRF1

Synonymous

interferon regulatory factor 1;IRF1;interferon regulatory factor 1

Definition

interferon regulatory factor 1 isoform +I9|interferon regulatory factor 1 isoform d78|interferon regulatory factor 1 isoform delta4|interferon regulatory factor 1 isoform delta7

Position

5q31.1

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

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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 0.28.

The copy number variations for various cancers

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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.811_812insG; p.D271fs*3; 5:132484403-132484404

 livercarcinomaInsertion - Frameshift

c.60A>C; p.Q20H; 5:132489419-132489419

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.158G>A; p.C53Y; 5:132487955-132487955

 breastcarcinomaSubstitution - Missense

c.921C>T; p.D307D; 5:132484008-132484008

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.357G>C; p.Q119H; 5:132486961-132486961

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.357G>C; p.Q119H; 5:132486961-132486961

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.197A>G; p.K66R; 5:132487121-132487121

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.311C>A; p.S104*; 5:132487007-132487007

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.932C>T; p.T311I; 5:132483997-132483997

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.765delG; p.Y256fs*34; 5:132484450-132484450

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.244C>T; p.R82C; 5:132487074-132487074

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3G>A; p.M1I; 5:132489476-132489476

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.554C>T; p.P185L; 5:132486364-132486364

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.53C>A; p.S18Y; 5:132489426-132489426

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.498_499insA; p.P167fs*42; 5:132486602-132486603

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeInsertion - Frameshift

c.665A>C; p.E222A; 5:132486253-132486253

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.129G>A; p.K43K; 5:132487984-132487984

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.326A>G; p.Y109C; 5:132486992-132486992

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.618_630del13; p.S207fs*28; 5:132486288-132486300

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.593C>T; p.P198L; 5:132486325-132486325

 thyroidcarcinomaSubstitution - Missense

c.235G>A; p.A79T; 5:132487083-132487083

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.151G>A; p.D51N; 5:132487962-132487962

 skinmalignant_melanomaSubstitution - Missense

c.800C>T; p.S267F; 5:132484415-132484415

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.674C>T; p.T225I; 5:132485710-132485710

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.800C>T; p.S267F; 5:132484415-132484415

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.800C>T; p.S267F; 5:132484415-132484415

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.193_194insA; p.Y65fs*1; 5:132487124-132487125

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeInsertion - Frameshift

c.195C>A; p.Y65*; 5:132487123-132487123

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Nonsense

c.78G>T; p.W26C; 5:132489401-132489401

 thyroidother; neoplasmSubstitution - Missense

c.256A>C; p.N86H; 5:132487062-132487062

 prostatecarcinomaSubstitution - Missense

c.568A>T; p.S190C; 5:132486350-132486350

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.757G>C; p.G253R; 5:132484458-132484458

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.750C>T; p.N250N; 5:132484465-132484465

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.43C>T; p.Q15*; 5:132489436-132489436

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiableSubstitution - Nonsense

c.454C>T; p.L152F; 5:132486647-132486647

 breastcarcinomaSubstitution - Missense

c.965C>A; p.P322H; 5:132483964-132483964

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.667G>C; p.A223P; 5:132486251-132486251

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.733G>A; p.E245K; 5:132484482-132484482

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.239A>G; p.N80S; 5:132487079-132487079

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.385C>T; p.R129*; 5:132486824-132486824

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Nonsense

c.220C>G; p.P74A; 5:132487098-132487098

 breastcarcinomaSubstitution - Missense

c.217G>C; p.D73H; 5:132487101-132487101

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.187G>A; p.G63S; 5:132487926-132487926

 pancreascarcinomaSubstitution - Missense

c.491A>G; p.Y164C; 5:132486610-132486610

 bone; pelvischondrosarcomaSubstitution - Missense

c.908_909CC>TT; p.A303V; 5:132484020-132484021

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.718-2A>G; p.?; 5:132484499-132484499

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.328C>A; p.R110R; 5:132486990-132486990

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.687G>A; p.E229E; 5:132485697-132485697

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.179T>G; p.I60S; 5:132487934-132487934

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.444C>T; p.F148F; 5:132486657-132486657

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.718-1G>T; p.?; 5:132484498-132484498

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.33G>A; p.W11*; 5:132489446-132489446

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

c.785G>T; p.G262V; 5:132484430-132484430

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.954C>G; p.I318M; 5:132483975-132483975

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.975G>A; p.P325P; 5:132483954-132483954

 prostatecarcinomaSubstitution - coding silent

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