|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 42144 |
FusionGeneSummary for XBP1_JUP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: XBP1_JUP | Fusion gene ID: 42144 | Hgene | Tgene | Gene symbol | XBP1 | JUP | Gene ID | 7494 | 3728 |
| Gene name | X-box binding protein 1 | junction plakoglobin | |
| Synonyms | TREB-5|TREB5|XBP-1|XBP2 | CTNNG|DP3|DPIII|PDGB|PKGB | |
| Cytomap | 22q12.1|22q12 | 17q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | X-box-binding protein 1tax-responsive element-binding protein 5 | junction plakoglobincatenin (cadherin-associated protein), gamma 80kDadesmoplakin IIIdesmoplakin-3 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P17861 | P14923 | |
| Ensembl transtripts involved in fusion gene | ENST00000216037, ENST00000403532, ENST00000405219, ENST00000344347, | ENST00000540235, ENST00000393930, ENST00000393931, ENST00000310706, | |
| Fusion gene scores | * DoF score | 7 X 7 X 4=196 | 21 X 22 X 8=3696 |
| # samples | 9 | 29 | |
| ** MAII score | log2(9/196*10)=-1.12285674778553 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(29/3696*10)=-3.67183995140112 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: XBP1 [Title/Abstract] AND JUP [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 | XBP1 | GO:0002639 | positive regulation of immunoglobulin production | 11460154 |
| Hgene | XBP1 | GO:0008284 | positive regulation of cell proliferation | 25656649 |
| Hgene | XBP1 | GO:0030335 | positive regulation of cell migration | 25656649 |
| Hgene | XBP1 | GO:0035470 | positive regulation of vascular wound healing | 25656649 |
| Hgene | XBP1 | GO:0045579 | positive regulation of B cell differentiation | 11460154 |
| Hgene | XBP1 | GO:0045582 | positive regulation of T cell differentiation | 11460154 |
| Hgene | XBP1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8657566 |
| Hgene | XBP1 | GO:0071222 | cellular response to lipopolysaccharide | 11460154 |
| Hgene | XBP1 | GO:1900100 | positive regulation of plasma cell differentiation | 11460154 |
| Hgene | XBP1 | GO:1902236 | negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 19135031 |
| Tgene | JUP | GO:0002159 | desmosome assembly | 22889254 |
| Tgene | JUP | GO:0042127 | regulation of cell proliferation | 17924338 |
| Tgene | JUP | GO:0042307 | positive regulation of protein import into nucleus | 10825188|14661054 |
| Tgene | JUP | GO:0050982 | detection of mechanical stimulus | 18937352 |
| Tgene | JUP | GO:0051091 | positive regulation of DNA binding transcription factor activity | 14661054 |
| Tgene | JUP | GO:0071681 | cellular response to indole-3-methanol | 10868478 |
| Tgene | JUP | GO:0098609 | cell-cell adhesion | 18937352 |
| 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 | BM807369 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| * 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 | ENST00000216037 | ENST00000540235 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000216037 | ENST00000393930 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000216037 | ENST00000393931 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000216037 | ENST00000310706 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000403532 | ENST00000540235 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000403532 | ENST00000393930 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000403532 | ENST00000393931 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000403532 | ENST00000310706 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000405219 | ENST00000540235 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000405219 | ENST00000393930 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000405219 | ENST00000393931 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000405219 | ENST00000310706 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000344347 | ENST00000540235 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000344347 | ENST00000393930 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000344347 | ENST00000393931 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
| intron-intron | ENST00000344347 | ENST00000310706 | XBP1 | chr22 | 29196445 | - | JUP | chr17 | 39780752 | - |
Top |
FusionProtFeatures for XBP1_JUP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| XBP1 | JUP |
| Functions as a transcription factor during endoplasmicreticulum (ER) stress by regulating the unfolded protein response(UPR). Required for cardiac myogenesis and hepatogenesis duringembryonic development, and the development of secretory tissuessuch as exocrine pancreas and salivary gland (By similarity).Involved in terminal differentiation of B lymphocytes to plasmacells and production of immunoglobulins (PubMed:11460154).Modulates the cellular response to ER stress in a PIK3R-dependentmanner (PubMed:20348923). Binds to the cis-acting X box present inthe promoter regions of major histocompatibility complex class IIgenes (PubMed:8349596). Involved in VEGF-induced endothelial cell(EC) proliferation and retinal blood vessel formation duringembryonic development but also for angiogenesis in adult tissuesunder ischemic conditions. Functions also as a major regulator ofthe UPR in obesity-induced insulin resistance and type 2 diabetesfor the management of obesity and diabetes prevention (Bysimilarity). {ECO:0000250|UniProtKB:O35426,ECO:0000269|PubMed:11460154, ECO:0000269|PubMed:20348923,ECO:0000269|PubMed:8349596}. Isoform 1: Plays a role in the unconventionalcytoplasmic splicing processing of its own mRNA triggered by theendoplasmic reticulum (ER) transmembrane endoribonuclease ENR1:upon ER stress, the emerging XBP1 polypeptide chain, as part of amRNA-ribosome-nascent chain (R-RNC) complex, cotranslationallyrecruits its own unprocessed mRNA through transient docking to theER membrane and translational pausing, therefore facilitatingefficient IRE1-mediated XBP1 mRNA isoform 2 production(PubMed:19394296, PubMed:21233347). In endothelial cells (EC),associated with KDR, promotes IRE1-mediated XBP1 mRNA isoform 2productions in a vascular endothelial growth factor (VEGF)-dependent manner, leading to EC proliferation and angiogenesis(PubMed:23529610). Functions as a negative feed-back regulator ofthe potent transcription factor XBP1 isoform 2 protein levelsthrough proteasome-mediated degradation, thus preventing theconstitutive activation of the ER stress response signalingpathway (PubMed:16461360, PubMed:25239945). Inhibits thetransactivation activity of XBP1 isoform 2 in myeloma cells (Bysimilarity). Acts as a weak transcriptional factor(PubMed:8657566). Together with HDAC3, contributes to theactivation of NFE2L2-mediated HMOX1 transcription factor geneexpression in a PI(3)K/mTORC2/Akt-dependent signaling pathwayleading to EC survival under disturbed flow/oxidative stress(PubMed:25190803). Binds to the ER stress response element (ERSE)upon ER stress (PubMed:11779464). Binds to the consensus 5'-GATGACGTG[TG]N(3)[AT]T-3' sequence related to cAMP responsiveelement (CRE)-like sequences (PubMed:8657566). Binds the Tax-responsive element (TRE) present in the long terminal repeat (LTR)of T-cell leukemia virus type 1 (HTLV-I) and to the TPA responseelements (TRE) (PubMed:2321018, PubMed:2196176, PubMed:1903538,PubMed:8657566). Associates preferentially to the HDAC3 genepromoter region in a static flow-dependent manner(PubMed:25190803). Binds to the CDH5/VE-cadherin gene promoterregion (PubMed:19416856). {ECO:0000250|UniProtKB:O35426,ECO:0000269|PubMed:11779464, ECO:0000269|PubMed:16461360,ECO:0000269|PubMed:1903538, ECO:0000269|PubMed:19394296,ECO:0000269|PubMed:19416856, ECO:0000269|PubMed:21233347,ECO:0000269|PubMed:2196176, ECO:0000269|PubMed:2321018,ECO:0000269|PubMed:23529610, ECO:0000269|PubMed:25190803,ECO:0000269|PubMed:25239945, ECO:0000269|PubMed:8657566}. Isoform 2: Functions as a stress-inducible potenttranscriptional activator during endoplasmic reticulum (ER) stressby inducing unfolded protein response (UPR) target genes viabinding to the UPR element (UPRE). Up-regulates target genesencoding ER chaperones and ER-associated degradation (ERAD)components to enhance the capacity of productive folding anddegradation mechanism, respectively, in order to maintain thehomeostasis of the ER under ER stress (PubMed:11779464,PubMed:25239945). Plays a role in the production ofimmunoglobulins and interleukin-6 in the presence of stimulirequired for plasma cell differentiation (By similarity). Inducesphospholipid biosynthesis and ER expansion (PubMed:15466483).Contributes to the VEGF-induced endothelial cell (EC) growth andproliferation in a Akt/GSK-dependent and/or -independent signalingpathway, respectively, leading to beta-catenin nucleartranslocation and E2F2 gene expression (PubMed:23529610). Promotesumbilical vein EC apoptosis and atherosclerotisis development in acaspase-dependent signaling pathway, and contributes to VEGF-induced EC proliferation and angiogenesis in adult tissues underischemic conditions (PubMed:19416856, PubMed:23529610). Involvedin the regulation of endostatin-induced autophagy in EC throughBECN1 transcriptional activation (PubMed:23184933). Plays a roleas an oncogene by promoting tumor progression: stimulates zincfinger protein SNAI1 transcription to induce epithelial-to-mesenchymal (EMT) transition, cell migration and invasion ofbreast cancer cells (PubMed:25280941). Involved in adipocytedifferentiation by regulating lipogenic gene expression duringlactation. Plays a role in the survival of both dopaminergicneurons of the substantia nigra pars compacta (SNpc), bymaintaining protein homeostasis and of myeloma cells. Increasesinsulin sensitivity in the liver as a response to a highcarbohydrate diet, resulting in improved glucose tolerance.Improves also glucose homeostasis in an ER stress- and/or insulin-independent manner through both binding and proteasome-induceddegradation of the transcription factor FOXO1, hence resulting insuppression of gluconeogenic genes expression and in a reductionof blood glucose levels. Controls the induction of de novo fattyacid synthesis in hepatocytes by regulating the expression of asubset of lipogenic genes in an ER stress- and UPR-independentmanner (By similarity). Associates preferentially to the HDAC3gene promoter region in a disturbed flow-dependent manner(PubMed:25190803). Binds to the BECN1 gene promoter region(PubMed:23184933). Binds to the CDH5/VE-cadherin gene promoterregion (PubMed:19416856). Binds to the ER stress response element(ERSE) upon ER stress (PubMed:11779464). Binds to the 5'-CCACG-3'motif in the PPARG promoter (By similarity).{ECO:0000250|UniProtKB:O35426, ECO:0000269|PubMed:11779464,ECO:0000269|PubMed:15466483, ECO:0000269|PubMed:19416856,ECO:0000269|PubMed:23184933, ECO:0000269|PubMed:23529610,ECO:0000269|PubMed:25190803, ECO:0000269|PubMed:25239945,ECO:0000269|PubMed:25280941}. | 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}. |
| 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 |
Top |
FusionGeneSequence for XBP1_JUP |
| 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). |
Top |
FusionGenePPI for XBP1_JUP |
| 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 |
Top |
RelatedDrugs for XBP1_JUP |
| 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 |
| Tgene | JUP | P14923 | DB01593 | Zinc | Junction plakoglobin | small molecule | approved|investigational |
Top |
RelatedDiseases for XBP1_JUP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | XBP1 | C0036341 | Schizophrenia | 3 | PSYGENET |
| Hgene | XBP1 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| Hgene | XBP1 | C0015695 | Fatty Liver | 1 | CTD_human |
| Hgene | XBP1 | C0017638 | Glioma | 1 | CTD_human |
| Hgene | XBP1 | C0021655 | Insulin Resistance | 1 | CTD_human |
| Hgene | XBP1 | C0271650 | Impaired glucose tolerance | 1 | CTD_human |
| Hgene | XBP1 | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human |
| Hgene | XBP1 | C0853193 | Bipolar I disorder | 1 | PSYGENET |
| Tgene | JUP | C0023895 | Liver diseases | 1 | CTD_human |
| Tgene | JUP | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | JUP | C0232347 | No-Reflow Phenomenon | 1 | CTD_human |
| Tgene | JUP | C1969081 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 | 1 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|