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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:IRF7-CARS2 (FusionGDB2 ID:HG3665TG79587) |
Fusion Gene Summary for IRF7-CARS2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IRF7-CARS2 | Fusion gene ID: hg3665tg79587 | Hgene | Tgene | Gene symbol | IRF7 | CARS2 | Gene ID | 3665 | 79587 |
| Gene name | interferon regulatory factor 7 | cysteinyl-tRNA synthetase 2, mitochondrial | |
| Synonyms | IMD39|IRF-7|IRF-7H|IRF7A|IRF7B|IRF7C|IRF7H | COXPD27|cysRS | |
| Cytomap | ('IRF7')('CARS2') 11p15.5 | 13q34 | |
| Type of gene | protein-coding | protein-coding | |
| Description | interferon regulatory factor 7interferon regulatory factor 7G isoforminterferon regulatory factor-7H | probable cysteine--tRNA ligase, mitochondrialcysteine tRNA ligase 2, mitochondrial (putative)cysteinyl-tRNA synthetase 2, mitochondrial (putative) | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q92985 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000330243, ENST00000348655, ENST00000397566, ENST00000397570, ENST00000397574, ENST00000525445, ENST00000397562, | ||
| Fusion gene scores | * DoF score | 3 X 4 X 2=24 | 6 X 5 X 3=90 |
| # samples | 4 | 7 | |
| ** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/90*10)=-0.362570079384708 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: IRF7 [Title/Abstract] AND CARS2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | IRF7(614478)-CARS2(111293936), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | IRF7-CARS2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. IRF7-CARS2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. IRF7-CARS2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. IRF7-CARS2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. IRF7-CARS2 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. IRF7-CARS2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | IRF7 | GO:0002819 | regulation of adaptive immune response | 17404045 |
| Hgene | IRF7 | GO:0032727 | positive regulation of interferon-alpha production | 16127453 |
| Hgene | IRF7 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16127453|17404045 |
| Hgene | IRF7 | GO:0051607 | defense response to virus | 21478870 |
| Fusion gene breakpoints across IRF7 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across CARS2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene information * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for IRF7-CARS2 |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000397570 | ENST00000257347 | IRF7 | chr11 | 614478 | - | CARS2 | chr13 | 111293936 | - | 0.5771408 | 0.42285913 |
| ENST00000397574 | ENST00000257347 | IRF7 | chr11 | 614478 | - | CARS2 | chr13 | 111293936 | - | 0.5771408 | 0.42285913 |
| ENST00000330243 | ENST00000257347 | IRF7 | chr11 | 614478 | - | CARS2 | chr13 | 111293936 | - | 0.60623676 | 0.3937633 |
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Fusion Genomic Features for IRF7-CARS2 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
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Fusion Protein Features for IRF7-CARS2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:614478/chr13:111293936) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IRF7 | . |
| FUNCTION: Key transcriptional regulator of type I interferon (IFN)-dependent immune responses and plays a critical role in the innate immune response against DNA and RNA viruses. Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters (PubMed:17574024, PubMed:32972995). Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction via both the virus-activated, MyD88-independent pathway and the TLR-activated, MyD88-dependent pathway. Induces transcription of ubiquitin hydrolase USP25 mRNA in response to lipopolysaccharide (LPS) or viral infection in a type I IFN-dependent manner (By similarity). Required during both the early and late phases of the IFN gene induction but is more critical for the late than for the early phase. Exists in an inactive form in the cytoplasm of uninfected cells and following viral infection, double-stranded RNA (dsRNA), or toll-like receptor (TLR) signaling, becomes phosphorylated by IKBKE and TBK1 kinases. This induces a conformational change, leading to its dimerization and nuclear localization where along with other coactivators it can activate transcription of the type I IFN and ISG genes. Can also play a role in regulating adaptive immune responses by inducing PSMB9/LMP2 expression, either directly or through induction of IRF1. Binds to the Q promoter (Qp) of EBV nuclear antigen 1 a (EBNA1) and may play a role in the regulation of EBV latency. Can activate distinct gene expression programs in macrophages and regulate the anti-tumor properties of primary macrophages (By similarity) (PubMed:11073981, PubMed:12374802, PubMed:15361868, PubMed:17404045). {ECO:0000250|UniProtKB:P70434, ECO:0000269|PubMed:11073981, ECO:0000269|PubMed:12374802, ECO:0000269|PubMed:15361868, ECO:0000269|PubMed:17404045, ECO:0000269|PubMed:17574024, ECO:0000269|PubMed:32972995}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | IRF7 | chr11:614478 | chr13:111293936 | ENST00000330243 | - | 4 | 10 | 11_126 | 164 | 517.0 | DNA binding | IRF tryptophan pentad repeat |
| Hgene | IRF7 | chr11:614478 | chr13:111293936 | ENST00000348655 | - | 4 | 9 | 11_126 | 151 | 475.0 | DNA binding | IRF tryptophan pentad repeat |
| Hgene | IRF7 | chr11:614478 | chr13:111293936 | ENST00000397566 | - | 3 | 9 | 11_126 | 164 | 517.0 | DNA binding | IRF tryptophan pentad repeat |
| Hgene | IRF7 | chr11:614478 | chr13:111293936 | ENST00000397570 | - | 5 | 10 | 11_126 | 151 | 475.0 | DNA binding | IRF tryptophan pentad repeat |
| Hgene | IRF7 | chr11:614478 | chr13:111293936 | ENST00000397574 | - | 5 | 11 | 11_126 | 151 | 504.0 | DNA binding | IRF tryptophan pentad repeat |
| Tgene | CARS2 | chr11:614478 | chr13:111293936 | ENST00000257347 | 0 | 15 | 317_321 | 0 | 565.0 | Motif | Note='KMSKS' region | |
| Tgene | CARS2 | chr11:614478 | chr13:111293936 | ENST00000257347 | 0 | 15 | 80_90 | 0 | 565.0 | Motif | Note='HIGH' region |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for IRF7-CARS2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >40268_40268_1_IRF7-CARS2_IRF7_chr11_614478_ENST00000330243_CARS2_chr13_111293936_ENST00000257347_length(transcript)=1052nt_BP=879nt CCGGCCCTCCGCTTCCCCGCGAGACGAAACTTCCCGTCCCGGCGGCTCTGGCACCCAGGGTCCGGCCTGCGCCTTCCCGCCAGGCCTGGA CACTGGTTCAACACCTGTGACTTCATGTGTGCGCGCCGGCCACACCTGCAGTCACACCTGTAGCCCCCTCTGCCAAGAGATCCATACCGA GGCAGCGTCGGTGGCTACAAGCCCTCAGTCCACACCTGTGGACACCTGTGACACCTGGCCACACGACCTGTGGCCGCGGCCTGGCGTCTG CTGCGACAGGAGCCCTTACCTCCCCTGTTATAACACCTGACCGCCACCTAACTGCCCCTGCAGAAGGAGCAATGGCCTTGGCTCCTGAGA GGTAAGAGCCCGGCCCACCCTCTCCAGATGCCAGTCCCCGAGCGCCCTGCAGCCGGCCCTGACTCTCCGCGGCCGGGCACCCGCAGGGCA GCCCCACGCGTGCTGTTCGGAGAGTGGCTCCTTGGAGAGATCAGCAGCGGCTGCTATGAGGGGCTGCAGTGGCTGGACGAGGCCCGCACC TGTTTCCGCGTGCCCTGGAAGCACTTCGCGCGCAAGGACCTGAGCGAGGCCGACGCGCGCATCTTCAAGGCCTGGGCTGTGGCCCGCGGC AGGTGGCCGCCTAGCAGCAGGGGAGGTGGCCCGCCCCCCGAGGCTGAGACTGCGGAGCGCGCCGGCTGGAAAACCAACTTCCGCTGCGCA CTGCGCAGCACGCGTCGCTTCGTGATGCTGCGGGATAACTCGGGGGACCCGGCCGACCCGCACAAGGTGTACGCGCTCAGCCGGGAGCTG TGCTGGCGAGAAGGCCCAGGCACGGACCAGACTGAGGCAGAGGCCCCCGCAGCTGTCCCACCACCACAGCCACGTGGGAACTGCTGGATC AAAGGACAAAAGACCAAAAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACAAGACGCACCCATGCTTCTCAGGGTC >40268_40268_1_IRF7-CARS2_IRF7_chr11_614478_ENST00000330243_CARS2_chr13_111293936_ENST00000257347_length(amino acids)=215AA_BP=1 MCSILSPLIFGLLSFDPAVPTWLWWWDSCGGLCLSLVRAWAFSPAQLPAERVHLVRVGRVPRVIPQHHEATRAAQCAAEVGFPAGALRSL SLGGRATSPAARRPPAAGHSPGLEDARVGLAQVLAREVLPGHAETGAGLVQPLQPLIAAAADLSKEPLSEQHAWGCPAGARPRRVRAGCR -------------------------------------------------------------- >40268_40268_2_IRF7-CARS2_IRF7_chr11_614478_ENST00000397570_CARS2_chr13_111293936_ENST00000257347_length(transcript)=996nt_BP=823nt GAAACTCCCGCCTGGCCACCATAAAAGCGCCGGCCCTCCGCTTCCCCGCGAGACGAAACTTCCCGTCCCGGCGGCTCTGGCACCCAGGGT CCGGCCTGCGCCTTCCCGCCAGGCCTGGACACTGGTTCAACACCTGTGACTTCATGTGTGCGCGCCGGCCACACCTGCAGTCACACCTGT AGCCCCCTCTGCCAAGAGATCCATACCGAGGCAGCGTCGGTGGCTACAAGCCCTCAGTCCACACCTGTGGACACCTGTGACACCTGGCCA CACGACCTGTGGCCGCGGCCTGGCGTCTGCTGCGACAGGAGCCCTTACCTCCCCTGTTATAACACCTGACCGCCACCTAACTGCCCCTGC AGAAGGAGCAATGGCCTTGGCTCCTGAGAGGGCAGCCCCACGCGTGCTGTTCGGAGAGTGGCTCCTTGGAGAGATCAGCAGCGGCTGCTA TGAGGGGCTGCAGTGGCTGGACGAGGCCCGCACCTGTTTCCGCGTGCCCTGGAAGCACTTCGCGCGCAAGGACCTGAGCGAGGCCGACGC GCGCATCTTCAAGGCCTGGGCTGTGGCCCGCGGCAGGTGGCCGCCTAGCAGCAGGGGAGGTGGCCCGCCCCCCGAGGCTGAGACTGCGGA GCGCGCCGGCTGGAAAACCAACTTCCGCTGCGCACTGCGCAGCACGCGTCGCTTCGTGATGCTGCGGGATAACTCGGGGGACCCGGCCGA CCCGCACAAGGTGTACGCGCTCAGCCGGGAGCTGTGCTGGCGAGAAGGCCCAGGCACGGACCAGACTGAGGCAGAGGCCCCCGCAGCTGT CCCACCACCACAGCCACGTGGGAACTGCTGGATCAAAGGACAAAAGACCAAAAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTG CTCACGACAAGACGCACCCATGCTTCTCAGGGTCAAGGCTTTATGTTAAAGCTTCCTGTCGGGGCTGCTAGGTCAGCATTAAAGTAAGGC >40268_40268_2_IRF7-CARS2_IRF7_chr11_614478_ENST00000397570_CARS2_chr13_111293936_ENST00000257347_length(amino acids)=216AA_BP=179 MWTPVTPGHTTCGRGLASAATGALTSPVITPDRHLTAPAEGAMALAPERAAPRVLFGEWLLGEISSGCYEGLQWLDEARTCFRVPWKHFA RKDLSEADARIFKAWAVARGRWPPSSRGGGPPPEAETAERAGWKTNFRCALRSTRRFVMLRDNSGDPADPHKVYALSRELCWREGPGTDQ -------------------------------------------------------------- >40268_40268_3_IRF7-CARS2_IRF7_chr11_614478_ENST00000397574_CARS2_chr13_111293936_ENST00000257347_length(transcript)=996nt_BP=823nt GAAACTCCCGCCTGGCCACCATAAAAGCGCCGGCCCTCCGCTTCCCCGCGAGACGAAACTTCCCGTCCCGGCGGCTCTGGCACCCAGGGT CCGGCCTGCGCCTTCCCGCCAGGCCTGGACACTGGTTCAACACCTGTGACTTCATGTGTGCGCGCCGGCCACACCTGCAGTCACACCTGT AGCCCCCTCTGCCAAGAGATCCATACCGAGGCAGCGTCGGTGGCTACAAGCCCTCAGTCCACACCTGTGGACACCTGTGACACCTGGCCA CACGACCTGTGGCCGCGGCCTGGCGTCTGCTGCGACAGGAGCCCTTACCTCCCCTGTTATAACACCTGACCGCCACCTAACTGCCCCTGC AGAAGGAGCAATGGCCTTGGCTCCTGAGAGGGCAGCCCCACGCGTGCTGTTCGGAGAGTGGCTCCTTGGAGAGATCAGCAGCGGCTGCTA TGAGGGGCTGCAGTGGCTGGACGAGGCCCGCACCTGTTTCCGCGTGCCCTGGAAGCACTTCGCGCGCAAGGACCTGAGCGAGGCCGACGC GCGCATCTTCAAGGCCTGGGCTGTGGCCCGCGGCAGGTGGCCGCCTAGCAGCAGGGGAGGTGGCCCGCCCCCCGAGGCTGAGACTGCGGA GCGCGCCGGCTGGAAAACCAACTTCCGCTGCGCACTGCGCAGCACGCGTCGCTTCGTGATGCTGCGGGATAACTCGGGGGACCCGGCCGA CCCGCACAAGGTGTACGCGCTCAGCCGGGAGCTGTGCTGGCGAGAAGGCCCAGGCACGGACCAGACTGAGGCAGAGGCCCCCGCAGCTGT CCCACCACCACAGCCACGTGGGAACTGCTGGATCAAAGGACAAAAGACCAAAAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTG CTCACGACAAGACGCACCCATGCTTCTCAGGGTCAAGGCTTTATGTTAAAGCTTCCTGTCGGGGCTGCTAGGTCAGCATTAAAGTAAGGC >40268_40268_3_IRF7-CARS2_IRF7_chr11_614478_ENST00000397574_CARS2_chr13_111293936_ENST00000257347_length(amino acids)=216AA_BP=179 MWTPVTPGHTTCGRGLASAATGALTSPVITPDRHLTAPAEGAMALAPERAAPRVLFGEWLLGEISSGCYEGLQWLDEARTCFRVPWKHFA RKDLSEADARIFKAWAVARGRWPPSSRGGGPPPEAETAERAGWKTNFRCALRSTRRFVMLRDNSGDPADPHKVYALSRELCWREGPGTDQ -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for IRF7-CARS2 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for IRF7-CARS2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for IRF7-CARS2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | IRF7 | C4225358 | IMMUNODEFICIENCY 39 | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | IRF7 | C0021368 | Inflammation | 1 | CTD_human |
| Hgene | IRF7 | C0021400 | Influenza | 1 | CTD_human |
| Hgene | IRF7 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | IRF7 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Tgene | C4225251 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
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