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Fusion gene ID: 18114 |
FusionGeneSummary for JUP_RFX5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: JUP_RFX5 | Fusion gene ID: 18114 | 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 | 20180523 | 20180523 | |
| UniProtAcc | P14923 | P48382 | |
| Ensembl transtripts involved in fusion gene | ENST00000540235, ENST00000393930, ENST00000393931, ENST00000310706, | ENST00000290524, ENST00000368870, ENST00000452671, ENST00000452513, ENST00000478564, | |
| Fusion gene scores | * DoF score | 18 X 17 X 8=2448 | 1 X 1 X 1=1 |
| # samples | 21 | 1 | |
| ** MAII score | log2(21/2448*10)=-3.54314232502653 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] | ||
| 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 |
| 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 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 |
| TCGA | LD | BRCA | TCGA-A2-A0YT-01A | JUP | chr17 | 39923781 | - | RFX5 | chr1 | 151315256 | - |
| * 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-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 | - |
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FusionProtFeatures for JUP_RFX5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| JUP | RFX5 |
| Common junctional plaque protein. The membrane-associated plaques are architectural elements in an importantstrategic position to influence the arrangement and function ofboth the cytoskeleton and the cells within the tissue. Thepresence of plakoglobin in both the desmosomes and in theintermediate junctions suggests that it plays a central role inthe structure and function of submembranous plaques. Acts as asubstrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-cateninin E-cadherin/catenin adhesion complexes which are proposed tocouple cadherins to the actin cytoskeleton (By similarity).{ECO:0000250}. | Activates transcription from class II MHC promoters.Recognizes X-boxes. Mediates cooperative binding between RFX andNF-Y. RFX binds the X1 box of MHC-II promoters. |
| 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 JUP_RFX5 |
| 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 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 |
| JUP | BIRC2, WDYHV1, RIBC2, NFKBIE, CTNNBIP1, PHB2, LGALS9, CTNNB1, CDH1, CTNNA1, EGFR, MUC1, APC, CDH3, CDH5, CDH2, PTPN14, PKP3, RAB8B, ARHGDIA, DSG3, PKP2, DSG2, ERBB2, BTRC, DSC2, GJB1, DSC3, PECAM1, TCF7L2, DSP, DSG1, PTPRF, PTPRK, USP1, DSC1, INSIG2, CUL4B, CUL2, CDK2, COPS5, GRK5, ILF3, PLEC, ITGB4, PTRH2, B4GALT1, RPL21, DBN1, SLC25A44, ABCC2, NENF, IARS2, ILF2, DES, ESR1, CCDC130, ZFYVE9, PAN2, CTNNA3, BRCA1, NFATC4, MAPK7, CDK15, TARDBP, ATP6V1B2, C1QBP, CSDE1, GANAB, GMPPB, HSPA4, DPYSL3, MSH2, NARS, PDE3A, PLOD2, SAMHD1, ST13, TRMT1, XRCC5, XRCC6, WWOX, CDH10, FHL2, CUL7, OBSL1, CCDC8, EED, ABCE1, RAD51AP1, C21orf59, CCDC51, GMCL1, RBM24, HNRNPA1, NTRK1, CTNNA2, MSN, PTEN, CEP128, TMEM17, CAT, FLNA, MYH9, RAB7A, YEATS4, AXIN1, DYNLL1, ATP6AP2, SYNPO, GOLT1B, LIMA1, MRPL9, MCM2, MCM5, UBXN1, CDC73, PI4KA, GPATCH2L, CDH8, NPPA, PDE4DIP, OAZ3, BRF2, RBM3, CYLD, CREBBP, EP300, CDK1, COQ2, DLD, SDHA, SOAT1, TRIM25 | RFX5 | RFXAP, CIITA, RFXANK, HDAC2, HDAC4, MLLT1, ANKRA2, CDV3, NDUFA7, MRPL53, RPS19, NDUFA2, SRPRB, RBMS1, SLIRP, LSM7, MOV10, NXF1, PPARG, APP, HIST1H2BG, HIST1H3A, EWSR1, GIGYF2, CDC73, RFX7, CSTF2T |
| - 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 JUP_RFX5 |
| 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 |
| Hgene | JUP | P14923 | DB01593 | Zinc | Junction plakoglobin | small molecule | approved|investigational |
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RelatedDiseases for JUP_RFX5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | JUP | C0023895 | Liver diseases | 1 | CTD_human |
| Hgene | JUP | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | JUP | C0232347 | No-Reflow Phenomenon | 1 | CTD_human |
| Hgene | JUP | C1969081 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 | 1 | CTD_human;UNIPROT |
| Tgene | RFX5 | C2931418 | Bare lymphocyte syndrome 2 | 1 | CTD_human;ORPHANET;UNIPROT |
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