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Fusion gene ID: 12049 |
FusionGeneSummary for ERN1_TBXA2R |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ERN1_TBXA2R | Fusion gene ID: 12049 | Hgene | Tgene | Gene symbol | ERN1 | TBXA2R | Gene ID | 2081 | 6915 |
| Gene name | endoplasmic reticulum to nucleus signaling 1 | thromboxane A2 receptor | |
| Synonyms | IRE1|IRE1P|IRE1a|hIRE1p | BDPLT13|TXA2-R | |
| Cytomap | 17q23.3 | 19p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase/endoribonuclease IRE1ER to nucleus signalling 1inositol-requiring 1inositol-requiring enzyme 1inositol-requiring protein 1ire1-alphaprotein kinase/endoribonuclease | thromboxane A2 receptorprostanoid TP receptor | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O75460 | P21731 | |
| Ensembl transtripts involved in fusion gene | ENST00000433197, ENST00000577567, ENST00000606895, | ENST00000375190, ENST00000589966, ENST00000411851, ENST00000587717, | |
| Fusion gene scores | * DoF score | 5 X 6 X 5=150 | 1 X 1 X 1=1 |
| # samples | 7 | 1 | |
| ** MAII score | log2(7/150*10)=-1.09953567355091 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ERN1 [Title/Abstract] AND TBXA2R [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 | ERN1 | GO:0001935 | endothelial cell proliferation | 23529610 |
| Hgene | ERN1 | GO:0006468 | protein phosphorylation | 9637683 |
| Hgene | ERN1 | GO:0007257 | activation of JUN kinase activity | 10650002 |
| Hgene | ERN1 | GO:0033120 | positive regulation of RNA splicing | 11779464|19622636 |
| Hgene | ERN1 | GO:0034976 | response to endoplasmic reticulum stress | 10650002 |
| Hgene | ERN1 | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 23529610 |
| Hgene | ERN1 | GO:0036289 | peptidyl-serine autophosphorylation | 20103773 |
| Hgene | ERN1 | GO:0036498 | IRE1-mediated unfolded protein response | 19328063|29198525 |
| Hgene | ERN1 | GO:0046777 | protein autophosphorylation | 9637683|19328063 |
| Hgene | ERN1 | GO:0070054 | mRNA splicing, via endonucleolytic cleavage and ligation | 11779464|19622636|21317875 |
| Hgene | ERN1 | GO:0071333 | cellular response to glucose stimulus | 20103773 |
| Hgene | ERN1 | GO:0098787 | mRNA cleavage involved in mRNA processing | 21317875 |
| Hgene | ERN1 | GO:1901142 | insulin metabolic process | 20103773 |
| 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 | D38081 | ERN1 | chr17 | 62150309 | + | TBXA2R | chr19 | 3606730 | - |
| * 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-5UTR | ENST00000433197 | ENST00000375190 | ERN1 | chr17 | 62150309 | + | TBXA2R | chr19 | 3606730 | - |
| intron-intron | ENST00000433197 | ENST00000589966 | ERN1 | chr17 | 62150309 | + | TBXA2R | chr19 | 3606730 | - |
| intron-intron | ENST00000433197 | ENST00000411851 | ERN1 | chr17 | 62150309 | + | TBXA2R | chr19 | 3606730 | - |
| intron-intron | ENST00000433197 | ENST00000587717 | ERN1 | chr17 | 62150309 | + | TBXA2R | chr19 | 3606730 | - |
| intron-5UTR | ENST00000577567 | ENST00000375190 | ERN1 | chr17 | 62150309 | + | TBXA2R | chr19 | 3606730 | - |
| intron-intron | ENST00000577567 | ENST00000589966 | ERN1 | chr17 | 62150309 | + | TBXA2R | chr19 | 3606730 | - |
| intron-intron | ENST00000577567 | ENST00000411851 | ERN1 | chr17 | 62150309 | + | TBXA2R | chr19 | 3606730 | - |
| intron-intron | ENST00000577567 | ENST00000587717 | ERN1 | chr17 | 62150309 | + | TBXA2R | chr19 | 3606730 | - |
| intron-5UTR | ENST00000606895 | ENST00000375190 | ERN1 | chr17 | 62150309 | + | TBXA2R | chr19 | 3606730 | - |
| intron-intron | ENST00000606895 | ENST00000589966 | ERN1 | chr17 | 62150309 | + | TBXA2R | chr19 | 3606730 | - |
| intron-intron | ENST00000606895 | ENST00000411851 | ERN1 | chr17 | 62150309 | + | TBXA2R | chr19 | 3606730 | - |
| intron-intron | ENST00000606895 | ENST00000587717 | ERN1 | chr17 | 62150309 | + | TBXA2R | chr19 | 3606730 | - |
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FusionProtFeatures for ERN1_TBXA2R |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ERN1 | TBXA2R |
| Serine/threonine-protein kinase and endoribonucleasethat acts as a key sensor for the endoplasmic reticulum unfoldedprotein response (UPR) (PubMed:11779464, PubMed:11175748,PubMed:12637535, PubMed:9637683, PubMed:21317875). In unstressedcells, the endoplasmic reticulum luminal domain is maintained inits inactive monomeric state by binding to the endoplasmicreticulum chaperone HSPA5/BiP (PubMed:21317875). Accumulation ofmisfolded protein in the endoplasmic reticulum causes release ofHSPA5/BiP, allowing the luminal domain to homodimerize, promotingautophosphorylation of the kinase domain and subsequent activationof the endoribonuclease activity (PubMed:21317875). Theendoribonuclease activity is specific for XBP1 mRNA and excises 26nucleotides from XBP1 mRNA (PubMed:11779464, PubMed:24508390,PubMed:21317875). The resulting spliced transcript of XBP1 encodesa transcriptional activator protein that up-regulates expressionof UPR target genes (PubMed:11779464, PubMed:24508390,PubMed:21317875). {ECO:0000269|PubMed:11175748,ECO:0000269|PubMed:11779464, ECO:0000269|PubMed:12637535,ECO:0000269|PubMed:21317875, ECO:0000269|PubMed:9637683,ECO:0000305|PubMed:24508390}. | Receptor for thromboxane A2 (TXA2), a potent stimulatorof platelet aggregation. The activity of this receptor is mediatedby a G-protein that activates a phosphatidylinositol-calciumsecond messenger system. In the kidney, the binding of TXA2 toglomerular TP receptors causes intense vasoconstriction. Activatesphospholipase C. Isoform 1 activates adenylyl cyclase. Isoform 2inhibits adenylyl cyclase. {ECO:0000269|PubMed:8613548}. |
| 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 ERN1_TBXA2R |
| 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 ERN1_TBXA2R |
| 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 ERN1_TBXA2R |
| 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 | TBXA2R | P21731 | DB06739 | Seratrodast | Thromboxane A2 receptor | small molecule | approved |
| Tgene | TBXA2R | P21731 | DB09285 | Morniflumate | Thromboxane A2 receptor | small molecule | approved |
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RelatedDiseases for ERN1_TBXA2R |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ERN1 | C0014544 | Epilepsy | 1 | CTD_human |
| Tgene | TBXA2R | C0005818 | Blood Platelet Disorders | 2 | CTD_human |
| Tgene | TBXA2R | C1319853 | Asthma, Aspirin-Induced | 2 | CTD_human |
| Tgene | TBXA2R | C0019087 | Hemorrhagic Disorders | 1 | CTD_human |
| Tgene | TBXA2R | C0027540 | Necrosis | 1 | CTD_human |
| Tgene | TBXA2R | C0034065 | Pulmonary Embolism | 1 | CTD_human |
| Tgene | TBXA2R | C0035455 | Rhinitis | 1 | CTD_human |
| Tgene | TBXA2R | C3279614 | BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO | 1 | ORPHANET;UNIPROT |
| Tgene | TBXA2R | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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