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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 IRF4 |
 Gene summary |
| Gene information | Gene symbol | IRF4 | Gene ID | 3662 |
| Gene name | interferon regulatory factor 4 | |
| Synonyms | LSIRF|MUM1|NF-EM5|SHEP8 | |
| Cytomap | 6p25.3 | |
| Type of gene | protein-coding | |
| Description | interferon regulatory factor 4lymphocyte-specific interferon regulatory factormultiple myeloma oncogene 1 | |
| Modification date | 20180520 | |
| UniProtAcc | Q15306 | |
| Context | PubMed: IRF4 [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 |
| IRF4 | GO:0045082 | positive regulation of interleukin-10 biosynthetic process | 12374808 |
| IRF4 | GO:0045086 | positive regulation of interleukin-2 biosynthetic process | 12374808 |
| IRF4 | GO:0045368 | positive regulation of interleukin-13 biosynthetic process | 12374808 |
| IRF4 | GO:0045404 | positive regulation of interleukin-4 biosynthetic process | 12374808 |
| IRF4 | GO:0045893 | positive regulation of transcription, DNA-templated | 12374808 |
| IRF4 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12374808 |
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Exon skipping events across known transcript of Ensembl for IRF4 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 IRF4 |
| 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 IRF4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_447500 | 6 | 391767:391809:393097:393368:394820:395007 | 393097:393368 | ENSG00000137265.10 | ENST00000493114.1 |
| exon_skip_447503 | 6 | 397110:397252:398827:398935:401423:401777 | 398827:398935 | ENSG00000137265.10 | ENST00000493114.1,ENST00000380956.4 |
| exon_skip_447504 | 6 | 405017:405130:406765:406899:407454:407618 | 406765:406899 | ENSG00000137265.10 | ENST00000493114.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IRF4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_447500 | 6 | 391767:391809:393097:393368:394820:395007 | 393097:393368 | ENSG00000137265.10 | ENST00000493114.1 |
| exon_skip_447503 | 6 | 397110:397252:398827:398935:401423:401777 | 398827:398935 | ENSG00000137265.10 | ENST00000380956.4,ENST00000493114.1 |
| exon_skip_447504 | 6 | 405017:405130:406765:406899:407454:407618 | 406765:406899 | ENSG00000137265.10 | ENST00000493114.1 |
| 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 IRF4 |
| 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 |
| ENST00000380956 | 398827 | 398935 | 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 |
| ENST00000380956 | 398827 | 398935 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IRF4 |
| 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 |
| ENST00000380956 | 5348 | 451 | 398827 | 398935 | 764 | 871 | 212 | 248 |
| 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 |
| ENST00000380956 | 5348 | 451 | 398827 | 398935 | 764 | 871 | 212 | 248 |
| 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 |
| Q15306 | 212 | 248 | 1 | 451 | Chain | ID=PRO_0000154556;Note=Interferon regulatory factor 4 |
| 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 |
| Q15306 | 212 | 248 | 1 | 451 | Chain | ID=PRO_0000154556;Note=Interferon regulatory factor 4 |
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SNVs in the skipped exons for IRF4 |
| - 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. |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_447500 | 393098 | 393368 | 393224 | 393224 | Frame_Shift_Del | C | - | p.L24fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_447500 | 393098 | 393368 | 393263 | 393263 | Frame_Shift_Del | C | - | p.Y37fs |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_447500 | 393098 | 393368 | 393302 | 393302 | Frame_Shift_Del | C | - | p.F50fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_447503 | 398828 | 398935 | 398848 | 398848 | Frame_Shift_Del | T | - | p.F220fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_447503 | 398828 | 398935 | 398861 | 398861 | Frame_Shift_Del | C | - | p.A224fs |
| LIHC | TCGA-CC-5262-01 | exon_skip_447500 | 393098 | 393368 | 393366 | 393366 | Nonsense_Mutation | A | T | p.K72* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| IPC298_SKIN | 393098 | 393368 | 393222 | 393222 | Missense_Mutation | C | T | p.L24F |
| BT483_BREAST | 398828 | 398935 | 398896 | 398896 | Missense_Mutation | G | A | p.E236K |
| HCT15_LARGE_INTESTINE | 398828 | 398935 | 398902 | 398902 | Missense_Mutation | A | T | p.S238C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IRF4 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IRF4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IRF4 |
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RelatedDrugs for IRF4 |
| 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 IRF4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| IRF4 | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human |
| IRF4 | C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | CTD_human |
| IRF4 | C0026764 | Multiple Myeloma | 1 | CTD_human |
| IRF4 | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
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