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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:PLGRKT-JAK2 (FusionGDB2 ID:66348) |
Fusion Gene Summary for PLGRKT-JAK2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PLGRKT-JAK2 | Fusion gene ID: 66348 | Hgene | Tgene | Gene symbol | PLGRKT | JAK2 | Gene ID | 55848 | 3717 |
| Gene name | plasminogen receptor with a C-terminal lysine | Janus kinase 2 | |
| Synonyms | AD025|C9orf46|MDS030|PLG-RKT|Plg-R(KT) | JTK10|THCYT3 | |
| Cytomap | 9p24.1 | 9p24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | plasminogen receptor (KT)5033414D02Rikplasminogen receptor, C-terminal lysine transmembrane proteintransmembrane protein C9orf46 | tyrosine-protein kinase JAK2JAK-2Janus kinase 2 (a protein tyrosine kinase) | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | Q9HBL7 | O60674 | |
| Ensembl transtripts involved in fusion gene | ENST00000223864, ENST00000482696, | ENST00000487310, ENST00000381652, ENST00000539801, ENST00000544510, | |
| Fusion gene scores | * DoF score | 6 X 4 X 5=120 | 22 X 26 X 9=5148 |
| # samples | 6 | 15 | |
| ** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/5148*10)=-5.10097764772482 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PLGRKT [Title/Abstract] AND JAK2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | PLGRKT(5431897)-JAK2(5123004), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | PLGRKT-JAK2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. PLGRKT-JAK2 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. PLGRKT-JAK2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. PLGRKT-JAK2 seems lost the major protein functional domain in Tgene partner, which is a kinase 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 |
| Tgene | JAK2 | GO:0010811 | positive regulation of cell-substrate adhesion | 10925297 |
| Tgene | JAK2 | GO:0019221 | cytokine-mediated signaling pathway | 8609418 |
| Tgene | JAK2 | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 8609418 |
| Tgene | JAK2 | GO:0034612 | response to tumor necrosis factor | 8609418 |
| Tgene | JAK2 | GO:0035409 | histone H3-Y41 phosphorylation | 19783980 |
| Tgene | JAK2 | GO:0035722 | interleukin-12-mediated signaling pathway | 7528775 |
| Tgene | JAK2 | GO:0046677 | response to antibiotic | 16280321 |
| Tgene | JAK2 | GO:0050727 | regulation of inflammatory response | 10925297 |
| Tgene | JAK2 | GO:0060396 | growth hormone receptor signaling pathway | 10925297 |
| Tgene | JAK2 | GO:0070671 | response to interleukin-12 | 7528775 |
| Fusion gene breakpoints across PLGRKT (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across JAK2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 |
| ChimerDB4 | CESC | TCGA-PN-A8MA-01A | PLGRKT | chr9 | 5431897 | - | JAK2 | chr9 | 5123004 | + |
| ChimerDB4 | CESC | TCGA-PN-A8MA-01A | PLGRKT | chr9 | 5436569 | - | JAK2 | chr9 | 5123004 | + |
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Fusion Gene ORF analysis for PLGRKT-JAK2 |
| 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 |
| 5CDS-intron | ENST00000223864 | ENST00000487310 | PLGRKT | chr9 | 5431897 | - | JAK2 | chr9 | 5123004 | + |
| 5UTR-3CDS | ENST00000223864 | ENST00000381652 | PLGRKT | chr9 | 5436569 | - | JAK2 | chr9 | 5123004 | + |
| 5UTR-3CDS | ENST00000223864 | ENST00000539801 | PLGRKT | chr9 | 5436569 | - | JAK2 | chr9 | 5123004 | + |
| 5UTR-3CDS | ENST00000223864 | ENST00000544510 | PLGRKT | chr9 | 5436569 | - | JAK2 | chr9 | 5123004 | + |
| 5UTR-3CDS | ENST00000482696 | ENST00000381652 | PLGRKT | chr9 | 5431897 | - | JAK2 | chr9 | 5123004 | + |
| 5UTR-3CDS | ENST00000482696 | ENST00000381652 | PLGRKT | chr9 | 5436569 | - | JAK2 | chr9 | 5123004 | + |
| 5UTR-3CDS | ENST00000482696 | ENST00000539801 | PLGRKT | chr9 | 5431897 | - | JAK2 | chr9 | 5123004 | + |
| 5UTR-3CDS | ENST00000482696 | ENST00000539801 | PLGRKT | chr9 | 5436569 | - | JAK2 | chr9 | 5123004 | + |
| 5UTR-3CDS | ENST00000482696 | ENST00000544510 | PLGRKT | chr9 | 5431897 | - | JAK2 | chr9 | 5123004 | + |
| 5UTR-3CDS | ENST00000482696 | ENST00000544510 | PLGRKT | chr9 | 5436569 | - | JAK2 | chr9 | 5123004 | + |
| 5UTR-intron | ENST00000223864 | ENST00000487310 | PLGRKT | chr9 | 5436569 | - | JAK2 | chr9 | 5123004 | + |
| 5UTR-intron | ENST00000482696 | ENST00000487310 | PLGRKT | chr9 | 5431897 | - | JAK2 | chr9 | 5123004 | + |
| 5UTR-intron | ENST00000482696 | ENST00000487310 | PLGRKT | chr9 | 5436569 | - | JAK2 | chr9 | 5123004 | + |
| Frame-shift | ENST00000223864 | ENST00000381652 | PLGRKT | chr9 | 5431897 | - | JAK2 | chr9 | 5123004 | + |
| Frame-shift | ENST00000223864 | ENST00000539801 | PLGRKT | chr9 | 5431897 | - | JAK2 | chr9 | 5123004 | + |
| Frame-shift | ENST00000223864 | ENST00000544510 | PLGRKT | chr9 | 5431897 | - | JAK2 | chr9 | 5123004 | + |
| 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 |
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Fusion Genomic Features for PLGRKT-JAK2 |
| 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) |
| PLGRKT | chr9 | 5436568 | - | JAK2 | chr9 | 5123003 | + | 0.9877987 | 0.012201264 |
| PLGRKT | chr9 | 5431896 | - | JAK2 | chr9 | 5123003 | + | 0.23095216 | 0.76904786 |
| PLGRKT | chr9 | 5436568 | - | JAK2 | chr9 | 5123003 | + | 0.9877987 | 0.012201264 |
| PLGRKT | chr9 | 5431896 | - | JAK2 | chr9 | 5123003 | + | 0.23095216 | 0.76904786 |
| 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. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for PLGRKT-JAK2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:5431897/:5123004) - 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 |
| PLGRKT | JAK2 |
| FUNCTION: Receptor for plasminogen. Regulates urokinase plasminogen activator-dependent and stimulates tissue-type plasminogen activator-dependent cell surface plasminogen activation. Proposed to be part of a local catecholaminergic cell plasminogen activation system that regulates neuroendocrine prohormone processing. Involved in regulation of inflammatory response; regulates monocyte chemotactic migration and matrix metalloproteinase activation, such as of MMP2 and MMP9. {ECO:0000269|PubMed:21940822}. | FUNCTION: Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and multiple interleukins (PubMed:7615558). Following ligand-binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins (PubMed:9618263). Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, cell stimulation with erythropoietin (EPO) during erythropoiesis leads to JAK2 autophosphorylation, activation, and its association with erythropoietin receptor (EPOR) that becomes phosphorylated in its cytoplasmic domain. Then, STAT5 (STAT5A or STAT5B) is recruited, phosphorylated and activated by JAK2. Once activated, dimerized STAT5 translocates into the nucleus and promotes the transcription of several essential genes involved in the modulation of erythropoiesis. Part of a signaling cascade that is activated by increased cellular retinol and that leads to the activation of STAT5 (STAT5A or STAT5B) (PubMed:21368206). In addition, JAK2 mediates angiotensin-2-induced ARHGEF1 phosphorylation (PubMed:20098430). Plays a role in cell cycle by phosphorylating CDKN1B (PubMed:21423214). Cooperates with TEC through reciprocal phosphorylation to mediate cytokine-driven activation of FOS transcription. In the nucleus, plays a key role in chromatin by specifically mediating phosphorylation of 'Tyr-41' of histone H3 (H3Y41ph), a specific tag that promotes exclusion of CBX5 (HP1 alpha) from chromatin (PubMed:19783980). {ECO:0000269|PubMed:12023369, ECO:0000269|PubMed:19783980, ECO:0000269|PubMed:20098430, ECO:0000269|PubMed:21368206, ECO:0000269|PubMed:21423214, ECO:0000269|PubMed:7615558, ECO:0000269|PubMed:9618263}. |
| 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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Fusion Gene Sequence for PLGRKT-JAK2 |
| 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. |
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Fusion Gene PPI Analysis for PLGRKT-JAK2 |
| 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 PLGRKT-JAK2 |
| 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 PLGRKT-JAK2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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