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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:JUP-RFX5 (FusionGDB2 ID:40892) |
Fusion Gene Summary for JUP-RFX5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: JUP-RFX5 | Fusion gene ID: 40892 | Hgene | Tgene | Gene symbol | JUP | RFX5 | Gene ID | 3728 | 5993 |
| Gene name | junction plakoglobin | regulatory factor X5 | |
| Synonyms | CTNNG|DP3|DPIII|PDGB|PKGB | - | |
| Cytomap | 17q21.2 | 1q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | junction plakoglobincatenin (cadherin-associated protein), gamma 80kDadesmoplakin IIIdesmoplakin-3 | DNA-binding protein RFX5regulatory factor X 5regulatory factor X, 5 (influences HLA class II expression) | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P14923 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000540235, ENST00000393930, ENST00000393931, ENST00000310706, | ENST00000290524, ENST00000368870, ENST00000452671, ENST00000452513, ENST00000478564, | |
| Fusion gene scores | * DoF score | 22 X 25 X 12=6600 | 1 X 1 X 1=1 |
| # samples | 32 | 1 | |
| ** MAII score | log2(32/6600*10)=-4.36632221424582 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: JUP [Title/Abstract] AND RFX5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | JUP(39923781)-RFX5(151315256), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | JUP | GO:0002159 | desmosome assembly | 22889254 |
| Hgene | JUP | GO:0042127 | regulation of cell proliferation | 17924338 |
| Hgene | JUP | GO:0042307 | positive regulation of protein import into nucleus | 10825188|14661054 |
| Hgene | JUP | GO:0050982 | detection of mechanical stimulus | 18937352 |
| Hgene | JUP | GO:0051091 | positive regulation of DNA-binding transcription factor activity | 14661054 |
| Hgene | JUP | GO:0071681 | cellular response to indole-3-methanol | 10868478 |
| Hgene | JUP | GO:0098609 | cell-cell adhesion | 18937352 |
| Tgene | RFX5 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10586057 |
| Fusion gene breakpoints across JUP (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 RFX5 (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 | BRCA | TCGA-A2-A0YT-01A | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| ChimerDB4 | BRCA | TCGA-A2-A0YT-01A | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
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Fusion Gene ORF analysis for JUP-RFX5 |
| 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-3CDS | ENST00000540235 | ENST00000290524 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000540235 | ENST00000368870 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000540235 | ENST00000452671 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000540235 | ENST00000452513 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-intron | ENST00000540235 | ENST00000478564 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000393930 | ENST00000290524 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000393930 | ENST00000368870 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000393930 | ENST00000452671 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000393930 | ENST00000452513 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-intron | ENST00000393930 | ENST00000478564 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000393931 | ENST00000290524 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000393931 | ENST00000368870 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000393931 | ENST00000452671 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000393931 | ENST00000452513 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-intron | ENST00000393931 | ENST00000478564 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000310706 | ENST00000290524 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000310706 | ENST00000368870 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000310706 | ENST00000452671 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-3CDS | ENST00000310706 | ENST00000452513 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| intron-intron | ENST00000310706 | ENST00000478564 | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| 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 JUP-RFX5 |
| 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. |
| 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 JUP-RFX5 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| JUP | . |
| FUNCTION: Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity). {ECO:0000250}. | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
| 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 JUP-RFX5 |
| 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 JUP-RFX5 |
| 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 JUP-RFX5 |
| 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 |
| Hgene | JUP | P14923 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
| Hgene | JUP | P14923 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
| Hgene | JUP | P14923 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
| Hgene | JUP | P14923 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational | |
| Hgene | JUP | P14923 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational | |
| Hgene | JUP | P14923 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational |
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Related Diseases for JUP-RFX5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | JUP | C1832600 | Naxos disease | 5 | CTD_human;GENOMICS_ENGLAND |
| Hgene | JUP | C1969081 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | JUP | C0023895 | Liver diseases | 1 | CTD_human |
| Hgene | JUP | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | JUP | C0086565 | Liver Dysfunction | 1 | CTD_human |
| Hgene | JUP | C0232347 | No-Reflow Phenomenon | 1 | CTD_human |
| Hgene | JUP | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
| Hgene | JUP | C1864826 | Epidermolysis bullosa, lethal acantholytic | 1 | ORPHANET |
| Hgene | JUP | C2713615 | Slow-Flow Phenomenon | 1 | CTD_human |
| Tgene | RFX5 | C0494261 | Combined immunodeficiency | 1 | GENOMICS_ENGLAND |
| Tgene | RFX5 | C1859536 | Bare Lymphocyte Syndrome, Type II, Complementation Group C | 1 | GENOMICS_ENGLAND |
| Tgene | RFX5 | C1859538 | Bare Lymphocyte Syndrome, Type II, Complementation Group E | 1 | GENOMICS_ENGLAND |
| Tgene | RFX5 | C2931418 | Bare lymphocyte syndrome 2 | 1 | CTD_human;ORPHANET;UNIPROT |
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