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Fusion gene ID: 26533 |
FusionGeneSummary for PDLIM5_IFIH1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDLIM5_IFIH1 | Fusion gene ID: 26533 | Hgene | Tgene | Gene symbol | PDLIM5 | IFIH1 | Gene ID | 10611 | 64135 |
| Gene name | PDZ and LIM domain 5 | interferon induced with helicase C domain 1 | |
| Synonyms | ENH|ENH1|L9|LIM | AGS7|Hlcd|IDDM19|MDA-5|MDA5|RLR-2|SGMRT1 | |
| Cytomap | 4q22.3 | 2q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | PDZ and LIM domain protein 5enigma homologenigma-like LIM domain proteinenigma-like PDZ and LIM domains protein | interferon-induced helicase C domain-containing protein 1CADM-140 autoantigenDEAD/H (Asp-Glu-Ala-Asp/His) box polypeptideRIG-I-like receptor 2RNA helicase-DEAD box protein 116clinically amyopathic dermatomyositis autoantigen 140 kDahelicardhelicase | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q96HC4 | Q9BYX4 | |
| Ensembl transtripts involved in fusion gene | ENST00000450793, ENST00000538141, ENST00000380180, ENST00000318007, ENST00000437932, ENST00000317968, ENST00000542407, ENST00000508216, ENST00000514743, ENST00000380176, ENST00000359265, ENST00000512274, ENST00000504489, | ENST00000263642, ENST00000421365, | |
| Fusion gene scores | * DoF score | 14 X 14 X 6=1176 | 4 X 4 X 2=32 |
| # samples | 15 | 4 | |
| ** MAII score | log2(15/1176*10)=-2.97085365434048 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PDLIM5 [Title/Abstract] AND IFIH1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 |
| Tgene | IFIH1 | GO:0016925 | protein sumoylation | 21156324 |
| Tgene | IFIH1 | GO:0032728 | positive regulation of interferon-beta production | 17600090 |
| Tgene | IFIH1 | GO:0039530 | MDA-5 signaling pathway | 17600090 |
| Tgene | IFIH1 | GO:0051607 | defense response to virus | 21478870 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AL080107 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| intron-intron | ENST00000450793 | ENST00000263642 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000450793 | ENST00000421365 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000538141 | ENST00000263642 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000538141 | ENST00000421365 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000380180 | ENST00000263642 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000380180 | ENST00000421365 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000318007 | ENST00000263642 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000318007 | ENST00000421365 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000437932 | ENST00000263642 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000437932 | ENST00000421365 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000317968 | ENST00000263642 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000317968 | ENST00000421365 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000542407 | ENST00000263642 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000542407 | ENST00000421365 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000508216 | ENST00000263642 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000508216 | ENST00000421365 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000514743 | ENST00000263642 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000514743 | ENST00000421365 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000380176 | ENST00000263642 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000380176 | ENST00000421365 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000359265 | ENST00000263642 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000359265 | ENST00000421365 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000512274 | ENST00000263642 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000512274 | ENST00000421365 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000504489 | ENST00000263642 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
| intron-intron | ENST00000504489 | ENST00000421365 | PDLIM5 | chr4 | 95490529 | + | IFIH1 | chr2 | 163164969 | - |
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FusionProtFeatures for PDLIM5_IFIH1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDLIM5 | IFIH1 |
| May play an important role in the heart development byscaffolding PKC to the Z-disk region. May play a role in theregulation of cardiomyocyte expansion. Overexpression promotes thedevelopment of heart hypertrophy. Contributes to the regulation ofdendritic spine morphogenesis in neurons. May restrainpostsynaptic growth of excitatory synapses (By similarity).{ECO:0000250}. | Innate immune receptor which acts as a cytoplasmicsensor of viral nucleic acids and plays a major role in sensingviral infection and in the activation of a cascade of antiviralresponses including the induction of type I interferons andproinflammatory cytokines. Its ligands include mRNA lacking 2'-O-methylation at their 5' cap and long-dsRNA (>1 kb in length). Uponligand binding it associates with mitochondria antiviral signalingprotein (MAVS/IPS1) which activates the IKK-related kinases: TBK1and IKBKE which phosphorylate interferon regulatory factors: IRF3and IRF7 which in turn activate transcription of antiviralimmunological genes, including interferons (IFNs); IFN-alpha andIFN-beta. Responsible for detecting the Picornaviridae familymembers such as encephalomyocarditis virus (EMCV) and mengoencephalomyocarditis virus (ENMG). Can also detect other virusessuch as dengue virus (DENV), west Nile virus (WNV), and reovirus.Also involved in antiviral signaling in response to virusescontaining a dsDNA genome, such as vaccinia virus. Plays animportant role in amplifying innate immune signaling throughrecognition of RNA metabolites that are produced during virusinfection by ribonuclease L (RNase L). May play an important rolein enhancing natural killer cell function and may be involved ingrowth inhibition and apoptosis in several tumor cell lines.{ECO:0000269|PubMed:14645903, ECO:0000269|PubMed:19211564,ECO:0000269|PubMed:19656871, ECO:0000269|PubMed:21217758,ECO:0000269|PubMed:21742966}. |
| 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 |
| - 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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FusionGeneSequence for PDLIM5_IFIH1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for PDLIM5_IFIH1 |
| 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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RelatedDrugs for PDLIM5_IFIH1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PDLIM5_IFIH1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PDLIM5 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| Hgene | PDLIM5 | C0036341 | Schizophrenia | 4 | PSYGENET |
| Hgene | PDLIM5 | C0041696 | Unipolar Depression | 4 | PSYGENET |
| Hgene | PDLIM5 | C1269683 | Major Depressive Disorder | 4 | PSYGENET |
| Hgene | PDLIM5 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | PDLIM5 | C0221765 | Chronic schizophrenia | 1 | PSYGENET |
| Tgene | IFIH1 | C0024141 | Lupus Erythematosus, Systemic | 2 | CTD_human |
| Tgene | IFIH1 | C0162538 | Immunoglobulin A deficiency (disorder) | 2 | CTD_human |
| Tgene | IFIH1 | C3888244 | AICARDI-GOUTIERES SYNDROME 7 | 2 | UNIPROT |
| Tgene | IFIH1 | C0018213 | Graves Disease | 1 | CTD_human |
| Tgene | IFIH1 | C0021400 | Influenza | 1 | CTD_human |
| Tgene | IFIH1 | C0033860 | Psoriasis | 1 | CTD_human |
| Tgene | IFIH1 | C0042900 | Vitiligo | 1 | CTD_human |
| Tgene | IFIH1 | C0796126 | AICARDI-GOUTIERES SYNDROME 1 | 1 | CTD_human |
| Tgene | IFIH1 | C4225427 | SINGLETON-MERTEN SYNDROME 1 | 1 | ORPHANET;UNIPROT |
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