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

Basic Information

Gene ID

3661

Name

IRF3

Synonymous

interferon regulatory factor 3;IRF3;interferon regulatory factor 3

Definition

-

Position

19q13.3-q13.4

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 0.04.

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.793C>T; p.L265L; 19:49662137-49662137

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.793C>T; p.L265L; 19:49662137-49662137

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.722G>A; p.W241*; 19:49662208-49662208

 skinmalignant_melanomaSubstitution - Nonsense

c.950G>A; p.G317E; 19:49661980-49661980

 breastcarcinomaSubstitution - Missense

c.669G>A; p.P223P; 19:49662261-49662261

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.782T>A; p.V261E; 19:49662148-49662148

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.307C>T; p.P103S; 19:49663373-49663373

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.418C>T; p.L140L; 19:49662608-49662608

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.411A>G; p.E137E; 19:49662615-49662615

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.681G>A; p.R227R; 19:49662249-49662249

 skinmalignant_melanomaSubstitution - coding silent

c.601+1G>A; p.?; 19:49662424-49662424

 thyroidcarcinomaUnknown

c.1137_1138CC>TT; p.R380W; 19:49659794-49659795

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1182C>T; p.H394H; 19:49659750-49659750

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.303C>T; p.H101H; 19:49663377-49663377

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.111T>C; p.P37P; 19:49664728-49664728

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.686T>G; p.V229G; 19:49662244-49662244

 breastcarcinomaSubstitution - Missense

c.686T>G; p.V229G; 19:49662244-49662244

 breastcarcinomaSubstitution - Missense

c.679C>T; p.R227W; 19:49662251-49662251

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.894G>T; p.E298D; 19:49662036-49662036

 thyroidother; neoplasmSubstitution - Missense

c.394A>G; p.T132A; 19:49663202-49663202

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.305A>T; p.D102V; 19:49663375-49663375

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1258delG; p.D420fs*>8; 19:49659674-49659674

 livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.1215C>T; p.S405S; 19:49659717-49659717

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.583C>A; p.L195M; 19:49662443-49662443

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.409G>A; p.E137K; 19:49662617-49662617

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1280G>C; p.S427T; 19:49659652-49659652

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1280G>C; p.S427T; 19:49659652-49659652

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1280G>C; p.S427T; 19:49659652-49659652

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.242G>A; p.R81H; 19:49663438-49663438

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.496C>T; p.P166S; 19:49662530-49662530

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.808G>T; p.G270W; 19:49662122-49662122

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.285C>A; p.D95E; 19:49663395-49663395

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.506A>G; p.Q169R; 19:49662520-49662520

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.271C>T; p.R91C; 19:49663409-49663409

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.612C>G; p.F204L; 19:49662318-49662318

 livercarcinomaSubstitution - Missense

c.571C>T; p.P191S; 19:49662455-49662455

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.711G>A; p.T237T; 19:49662219-49662219

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.784A>G; p.R262G; 19:49662146-49662146

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.784A>G; p.R262G; 19:49662146-49662146

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.276A>G; p.L92L; 19:49663404-49663404

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.999G>A; p.T333T; 19:49660812-49660812

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1048_1049insG; p.E350fs*>79; 19:49660762-49660763

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1276G>A; p.E426K; 19:49659656-49659656

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.386G>A; p.G129E; 19:49663210-49663210

 skinmalignant_melanomaSubstitution - Missense

c.644T>A; p.V215D; 19:49662286-49662286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1137C>G; p.A379A; 19:49659795-49659795

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.731C>G; p.T244R; 19:49662199-49662199

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.603G>A; p.E201E; 19:49662327-49662327

 skinmalignant_melanomaSubstitution - coding silent

c.939G>A; p.K313K; 19:49661991-49661991

 skinmalignant_melanomaSubstitution - coding silent

c.162C>A; p.F54L; 19:49664677-49664677

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.318C>T; p.I106I; 19:49663362-49663362

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.854G>T; p.R285L; 19:49662076-49662076

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.409-3C>T; p.?; 19:49662620-49662620

 livercarcinomaUnknown

c.1043T>G; p.V348G; 19:49660768-49660768

 breastcarcinomaSubstitution - Missense

c.802C>A; p.L268M; 19:49662128-49662128

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1000G>T; p.E334*; 19:49660811-49660811

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.265G>A; p.G89R; 19:49663415-49663415

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.612C>T; p.F204F; 19:49662318-49662318

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1048G>A; p.E350K; 19:49660763-49660763

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.346G>T; p.D116Y; 19:49663250-49663250

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1004G>A; p.G335E; 19:49660807-49660807

 breastcarcinomaSubstitution - Missense

c.243C>T; p.R81R; 19:49663437-49663437

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.206A>G; p.D69G; 19:49663474-49663474

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.782T>C; p.V261A; 19:49662148-49662148

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.909C>T; p.S303S; 19:49662021-49662021

 pancreascarcinomaSubstitution - coding silent

c.826C>T; p.R276W; 19:49662104-49662104

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.826C>T; p.R276W; 19:49662104-49662104

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.102C>T; p.F34F; 19:49664737-49664737

 skinmalignant_melanomaSubstitution - coding silent

c.692C>T; p.S231F; 19:49662238-49662238

 skinmalignant_melanomaSubstitution - Missense

c.1109C>T; p.T370M; 19:49659823-49659823

 breastcarcinomaSubstitution - Missense

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