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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for IRF1 |
 Gene summary |
| Gene information | Gene symbol | IRF1 | Gene ID | 3659 |
| Gene name | interferon regulatory factor 1 | |
| Synonyms | IRF-1|MAR | |
| Cytomap | 5q31.1 | |
| Type of gene | protein-coding | |
| Description | interferon regulatory factor 1interferon regulatory factor 1 isoform +I9interferon regulatory factor 1 isoform d78interferon regulatory factor 1 isoform d9,10+interferon regulatory factor 1 isoform delta4interferon regulatory factor 1 isoform delta7 | |
| Modification date | 20180527 | |
| UniProtAcc | P10914 | |
| Context | PubMed: IRF1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| IRF1 | GO:0006915 | apoptotic process | 19851330 |
| IRF1 | GO:0007050 | cell cycle arrest | 22200613 |
| IRF1 | GO:0035458 | cellular response to interferon-beta | 18035482 |
| IRF1 | GO:0045893 | positive regulation of transcription, DNA-templated | 22200613 |
| IRF1 | GO:0051607 | defense response to virus | 21389130|21478870 |
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Exon skipping events across known transcript of Ensembl for IRF1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for IRF1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for IRF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443888 | 5 | 131818777:131819767:131820053:131820189:131821358:131821408 | 131820053:131820189 | ENSG00000125347.9 | ENST00000405885.2,ENST00000245414.4 |
| exon_skip_443901 | 5 | 131820086:131820189:131821358:131821408:131821942:131822065 | 131821358:131821408 | ENSG00000125347.9 | ENST00000405885.2,ENST00000245414.4 |
| exon_skip_443908 | 5 | 131821358:131821408:131821942:131822065:131822248:131822331 | 131821942:131822065 | ENSG00000125347.9 | ENST00000405885.2,ENST00000245414.4 |
| exon_skip_443910 | 5 | 131822355:131822378:131822486:131822536:131822645:131822822 | 131822486:131822536 | ENSG00000125347.9 | ENST00000437654.1,ENST00000463784.1,ENST00000458069.1,ENST00000439555.2,ENST00000459982.1,ENST00000405885.2,ENST00000245414.4 |
| exon_skip_443912 | 5 | 131822653:131822822:131823617:131823717:131825083:131825175 | 131823617:131823717 | ENSG00000125347.9 | ENST00000437654.1,ENST00000458069.1,ENST00000476613.1,ENST00000405885.2,ENST00000245414.4 |
| exon_skip_443914 | 5 | 131822653:131822822:131823617:131823744:131825083:131825175 | 131823617:131823744 | ENSG00000125347.9 | ENST00000459982.1 |
| exon_skip_443916 | 5 | 131822653:131822822:131825083:131825175:131826236:131826418 | 131825083:131825175 | ENSG00000125347.9 | ENST00000439555.2 |
| exon_skip_443918 | 5 | 131823617:131823717:131825083:131825175:131826236:131826418 | 131825083:131825175 | ENSG00000125347.9 | ENST00000437654.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IRF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443888 | 5 | 131818777:131819767:131820053:131820189:131821358:131821408 | 131820053:131820189 | ENSG00000125347.9 | ENST00000245414.4,ENST00000405885.2 |
| exon_skip_443901 | 5 | 131820086:131820189:131821358:131821408:131821942:131822065 | 131821358:131821408 | ENSG00000125347.9 | ENST00000245414.4,ENST00000405885.2 |
| exon_skip_443908 | 5 | 131821358:131821408:131821942:131822065:131822248:131822331 | 131821942:131822065 | ENSG00000125347.9 | ENST00000245414.4,ENST00000405885.2 |
| exon_skip_443910 | 5 | 131822355:131822378:131822486:131822536:131822645:131822822 | 131822486:131822536 | ENSG00000125347.9 | ENST00000245414.4,ENST00000405885.2,ENST00000437654.1,ENST00000459982.1,ENST00000458069.1,ENST00000463784.1,ENST00000439555.2 |
| exon_skip_443912 | 5 | 131822653:131822822:131823617:131823717:131825083:131825175 | 131823617:131823717 | ENSG00000125347.9 | ENST00000245414.4,ENST00000405885.2,ENST00000437654.1,ENST00000458069.1,ENST00000476613.1 |
| exon_skip_443914 | 5 | 131822653:131822822:131823617:131823744:131825083:131825175 | 131823617:131823744 | ENSG00000125347.9 | ENST00000459982.1 |
| exon_skip_443916 | 5 | 131822653:131822822:131825083:131825175:131826236:131826418 | 131825083:131825175 | ENSG00000125347.9 | ENST00000439555.2 |
| exon_skip_443918 | 5 | 131823617:131823717:131825083:131825175:131826236:131826418 | 131825083:131825175 | ENSG00000125347.9 | ENST00000437654.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for IRF1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000245414 | 131820053 | 131820189 | Frame-shift |
| ENST00000405885 | 131820053 | 131820189 | Frame-shift |
| ENST00000245414 | 131821358 | 131821408 | Frame-shift |
| ENST00000405885 | 131821358 | 131821408 | Frame-shift |
| ENST00000245414 | 131822486 | 131822536 | Frame-shift |
| ENST00000405885 | 131822486 | 131822536 | Frame-shift |
| ENST00000245414 | 131823617 | 131823717 | Frame-shift |
| ENST00000405885 | 131823617 | 131823717 | Frame-shift |
| ENST00000245414 | 131821942 | 131822065 | In-frame |
| ENST00000405885 | 131821942 | 131822065 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000245414 | 131820053 | 131820189 | Frame-shift |
| ENST00000405885 | 131820053 | 131820189 | Frame-shift |
| ENST00000245414 | 131821358 | 131821408 | Frame-shift |
| ENST00000405885 | 131821358 | 131821408 | Frame-shift |
| ENST00000245414 | 131822486 | 131822536 | Frame-shift |
| ENST00000405885 | 131822486 | 131822536 | Frame-shift |
| ENST00000245414 | 131823617 | 131823717 | Frame-shift |
| ENST00000405885 | 131823617 | 131823717 | Frame-shift |
| ENST00000245414 | 131821942 | 131822065 | In-frame |
| ENST00000405885 | 131821942 | 131822065 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IRF1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000245414 | 3596 | 325 | 131821942 | 131822065 | 804 | 926 | 181 | 222 |
| ENST00000405885 | 2078 | 325 | 131821942 | 131822065 | 763 | 885 | 181 | 222 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000245414 | 3596 | 325 | 131821942 | 131822065 | 804 | 926 | 181 | 222 |
| ENST00000405885 | 2078 | 325 | 131821942 | 131822065 | 763 | 885 | 181 | 222 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P10914 | 181 | 222 | 1 | 325 | Chain | ID=PRO_0000154545;Note=Interferon regulatory factor 1 |
| P10914 | 181 | 222 | 1 | 325 | Chain | ID=PRO_0000154545;Note=Interferon regulatory factor 1 |
| P10914 | 181 | 222 | 220 | 220 | Sequence conflict | Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P10914 | 181 | 222 | 220 | 220 | Sequence conflict | Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P10914 | 181 | 222 | 220 | 220 | Sequence conflict | Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P10914 | 181 | 222 | 220 | 220 | Sequence conflict | Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P10914 | 181 | 222 | 1 | 325 | Chain | ID=PRO_0000154545;Note=Interferon regulatory factor 1 |
| P10914 | 181 | 222 | 1 | 325 | Chain | ID=PRO_0000154545;Note=Interferon regulatory factor 1 |
| P10914 | 181 | 222 | 220 | 220 | Sequence conflict | Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P10914 | 181 | 222 | 220 | 220 | Sequence conflict | Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P10914 | 181 | 222 | 220 | 220 | Sequence conflict | Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P10914 | 181 | 222 | 220 | 220 | Sequence conflict | Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for IRF1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
IRF1_STAD_exon_skip_443908_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| COAD | TCGA-D5-6927-01 | exon_skip_443888 | 131820054 | 131820189 | 131820142 | 131820142 | Frame_Shift_Del | C | - | p.Y256fs |
| STAD | TCGA-CG-5721-01 | exon_skip_443908 | 131821943 | 131822065 | 131822004 | 131822005 | Frame_Shift_Del | CA | - | p.202_203del |
| STAD | TCGA-CG-5721-01 | exon_skip_443908 | 131821943 | 131822065 | 131822004 | 131822005 | Frame_Shift_Del | CA | - | p.V202fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_443916 exon_skip_443918 | 131825084 | 131825175 | 131825102 | 131825102 | Frame_Shift_Del | C | - | p.G23fs |
| THYM | TCGA-ZC-AAA7-01 | exon_skip_443910 | 131822487 | 131822536 | 131822507 | 131822508 | Frame_Shift_Ins | - | A | p.E132fs |
| THYM | TCGA-ZC-AAA7-01 | exon_skip_443910 | 131822487 | 131822536 | 131822507 | 131822508 | Frame_Shift_Ins | - | A | p.K131fs |
| ESCA | TCGA-L5-A88T-01 | exon_skip_443908 | 131821943 | 131822065 | 131821980 | 131821980 | Nonsense_Mutation | G | T | p.Y210* |
| ESCA | TCGA-L5-A88T-01 | exon_skip_443908 | 131821943 | 131822065 | 131821980 | 131821980 | Nonsense_Mutation | G | T | p.Y210X |
| COAD | TCGA-AA-3663-01 | exon_skip_443888 | 131820054 | 131820189 | 131820190 | 131820190 | Splice_Site | C | A | . |
| COAD | TCGA-AA-3713-01 | exon_skip_443888 | 131820054 | 131820189 | 131820191 | 131820191 | Splice_Site | T | C | . |
| PAAD | TCGA-IB-7651-01 | exon_skip_443901 | 131821359 | 131821408 | 131821409 | 131821409 | Splice_Site | C | T | . |
| DLBC | TCGA-GR-7351-01 | exon_skip_443916 exon_skip_443918 | 131825084 | 131825175 | 131825083 | 131825083 | Splice_Site | C | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CG-5721-01 |
| Cancer type: STAD | |
| ESID: exon_skip_443908 | |
| Skipped exon start: 131821943 | |
| Skipped exon end: 131822065 | |
| Mutation start: 131822004 | |
| Mutation end: 131822005 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CA | |
| Mutation seq: - | |
| AAchange: p.202_203del | |
| Sample: TCGA-CG-5721-01 |
| Cancer type: STAD | |
| ESID: exon_skip_443908 | |
| Skipped exon start: 131821943 | |
| Skipped exon end: 131822065 | |
| Mutation start: 131822004 | |
| Mutation end: 131822005 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CA | |
| Mutation seq: - | |
| AAchange: p.V202fs | |
exon_skip_107493_STAD_TCGA-CG-5721-01.png | |
exon_skip_107867_STAD_TCGA-CG-5721-01.png | |
exon_skip_123973_STAD_TCGA-CG-5721-01.png | |
exon_skip_124728_STAD_TCGA-CG-5721-01.png | |
exon_skip_20583_STAD_TCGA-CG-5721-01.png | |
exon_skip_284550_STAD_TCGA-CG-5721-01.png | |
exon_skip_287086_STAD_TCGA-CG-5721-01.png | |
exon_skip_287092_STAD_TCGA-CG-5721-01.png | |
exon_skip_328008_STAD_TCGA-CG-5721-01.png | |
exon_skip_347989_STAD_TCGA-CG-5721-01.png | |
exon_skip_360357_STAD_TCGA-CG-5721-01.png | |
exon_skip_360359_STAD_TCGA-CG-5721-01.png | |
exon_skip_361242_STAD_TCGA-CG-5721-01.png | |
exon_skip_363554_STAD_TCGA-CG-5721-01.png | |
exon_skip_370065_STAD_TCGA-CG-5721-01.png | |
exon_skip_377240_STAD_TCGA-CG-5721-01.png | |
exon_skip_378735_STAD_TCGA-CG-5721-01.png | |
exon_skip_41850_STAD_TCGA-CG-5721-01.png | |
exon_skip_425098_STAD_TCGA-CG-5721-01.png | |
exon_skip_443908_STAD_TCGA-CG-5721-01.png | |
exon_skip_449553_STAD_TCGA-CG-5721-01.png | |
exon_skip_452918_STAD_TCGA-CG-5721-01.png | |
exon_skip_454809_STAD_TCGA-CG-5721-01.png | |
exon_skip_462689_STAD_TCGA-CG-5721-01.png | |
exon_skip_482821_STAD_TCGA-CG-5721-01.png | |
exon_skip_482822_STAD_TCGA-CG-5721-01.png | |
exon_skip_487878_STAD_TCGA-CG-5721-01.png | |
exon_skip_502793_STAD_TCGA-CG-5721-01.png | |
exon_skip_508189_STAD_TCGA-CG-5721-01.png | |
exon_skip_516607_STAD_TCGA-CG-5721-01.png | |
exon_skip_54935_STAD_TCGA-CG-5721-01.png | |
exon_skip_96977_STAD_TCGA-CG-5721-01.png | |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| SNU1272_KIDNEY | 131820054 | 131820189 | 131820174 | 131820174 | Missense_Mutation | C | T | p.E245K |
| NCIH1688_LUNG | 131821359 | 131821408 | 131821362 | 131821362 | Missense_Mutation | C | A | p.M238I |
| NCIH1770_LUNG | 131821943 | 131822065 | 131821981 | 131821981 | Missense_Mutation | T | A | p.Y210F |
| NCIH2106_LUNG | 131821943 | 131822065 | 131821981 | 131821981 | Missense_Mutation | T | A | p.Y210F |
| MFE319_ENDOMETRIUM | 131823618 | 131823717 | 131823680 | 131823680 | Missense_Mutation | G | A | p.A42V |
| MFE319_ENDOMETRIUM | 131823618 | 131823744 | 131823680 | 131823680 | Missense_Mutation | G | A | p.A42V |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131823618 | 131823717 | 131823693 | 131823693 | Missense_Mutation | A | G | p.W38R |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131823618 | 131823744 | 131823693 | 131823693 | Missense_Mutation | A | G | p.W38R |
| HCC2998_LARGE_INTESTINE | 131825084 | 131825175 | 131825111 | 131825111 | Missense_Mutation | T | G | p.Q20H |
| TOV21G_OVARY | 131825084 | 131825175 | 131825166 | 131825166 | Missense_Mutation | G | T | p.P2H |
| OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131823618 | 131823717 | 131823619 | 131823619 | Splice_Site | T | C | p.T62T |
| OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131823618 | 131823744 | 131823619 | 131823619 | Splice_Site | T | C | p.T62T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IRF1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_443908 | 5 | 131821358:131821408:131821942:131822065:131822248:131822331 | 131821942:131822065 | ENST00000405885.2,ENST00000245414.4 | BRCA | rs9282762 | chr5:131822055 | T/C | 4.04e-04 |
| exon_skip_443908 | 5 | 131821358:131821408:131821942:131822065:131822248:131822331 | 131821942:131822065 | ENST00000405885.2,ENST00000245414.4 | KIRP | rs9282762 | chr5:131822055 | T/C | 4.60e-05 |
| exon_skip_443908 | 5 | 131821358:131821408:131821942:131822065:131822248:131822331 | 131821942:131822065 | ENST00000405885.2,ENST00000245414.4 | KIRP | rs9282762 | chr5:131822055 | T/C | 9.26e-04 |
| exon_skip_443908 | 5 | 131821358:131821408:131821942:131822065:131822248:131822331 | 131821942:131822065 | ENST00000405885.2,ENST00000245414.4 | LGG | rs9282762 | chr5:131822055 | T/C | 3.00e-06 |
| exon_skip_443908 | 5 | 131821358:131821408:131821942:131822065:131822248:131822331 | 131821942:131822065 | ENST00000405885.2,ENST00000245414.4 | LGG | rs9282762 | chr5:131822055 | T/C | 2.57e-04 |
| exon_skip_443908 | 5 | 131821358:131821408:131821942:131822065:131822248:131822331 | 131821942:131822065 | ENST00000405885.2,ENST00000245414.4 | KIRC | rs9282762 | chr5:131822055 | T/C | 9.89e-05 |
| exon_skip_443908 | 5 | 131821358:131821408:131821942:131822065:131822248:131822331 | 131821942:131822065 | ENST00000405885.2,ENST00000245414.4 | KIRC | rs9282762 | chr5:131822055 | T/C | 4.68e-04 |
| exon_skip_443908 | 5 | 131821358:131821408:131821942:131822065:131822248:131822331 | 131821942:131822065 | ENST00000405885.2,ENST00000245414.4 | LUSC | rs9282762 | chr5:131822055 | T/C | 4.79e-06 |
| exon_skip_443908 | 5 | 131821358:131821408:131821942:131822065:131822248:131822331 | 131821942:131822065 | ENST00000405885.2,ENST00000245414.4 | LUSC | rs9282762 | chr5:131822055 | T/C | 4.79e-06 |
| exon_skip_443908 | 5 | 131821358:131821408:131821942:131822065:131822248:131822331 | 131821942:131822065 | ENST00000405885.2,ENST00000245414.4 | THCA | rs9282762 | chr5:131822055 | T/C | 2.18e-06 |
| exon_skip_443908 | 5 | 131821358:131821408:131821942:131822065:131822248:131822331 | 131821942:131822065 | ENST00000405885.2,ENST00000245414.4 | THCA | rs9282762 | chr5:131822055 | T/C | 2.96e-06 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IRF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IRF1 |
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RelatedDrugs for IRF1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for IRF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| IRF1 | C0699791 | Stomach Carcinoma | 2 | HPO;UNIPROT |
| IRF1 | C0038454 | Cerebrovascular accident | 1 | CTD_human |
| IRF1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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