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Kinase Fusion Gene:PSAP_ERN1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: PSAP_ERN1 | KinaseFusionDB ID: KFG5079 | FusionGDB2.0 ID: KFG5079 | Hgene | Tgene | Gene symbol | PSAP | ERN1 | Gene ID | 729238 | 2081 | |
| Gene name | endoplasmic reticulum to nucleus signaling 1 | |||||||||||
| Synonyms | IRE1|IRE1P|IRE1a|hIRE1p | |||||||||||
| Cytomap | 17q23.3 | |||||||||||
| Type of gene | protein-coding | |||||||||||
| Description | serine/threonine-protein kinase/endoribonuclease IRE1ER to nucleus signalling 1inositol-requiring 1inositol-requiring enzyme 1inositol-requiring protein 1ire1-alphaprotein kinase/endoribonuclease | |||||||||||
| Modification date | 20240416 | |||||||||||
| UniProtAcc | Q9NZJ7 | O75460 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000394934, ENST00000394936, | ENST00000433197, ENST00000577567, ENST00000606895, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: PSAP [Title/Abstract] AND ERN1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | PSAP(73595329)-ERN1(62116509), # samples:1 | |||||||||||
| 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 | ERN1 | GO:0001935 | endothelial cell proliferation | 23529610 |
| Tgene | ERN1 | GO:0006468 | protein phosphorylation | 9637683 |
| Tgene | ERN1 | GO:0033120 | positive regulation of RNA splicing | 11779464|19622636 |
| Tgene | ERN1 | GO:0034620 | cellular response to unfolded protein | 19328063 |
| Tgene | ERN1 | GO:0034976 | response to endoplasmic reticulum stress | 10650002 |
| Tgene | ERN1 | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 23529610 |
| Tgene | ERN1 | GO:0036289 | peptidyl-serine autophosphorylation | 20103773 |
| Tgene | ERN1 | GO:0036498 | IRE1-mediated unfolded protein response | 9637683|11779465|19328063|29198525 |
| Tgene | ERN1 | GO:0043507 | positive regulation of JUN kinase activity | 10650002 |
| Tgene | ERN1 | GO:0046777 | protein autophosphorylation | 9637683|19328063 |
| Tgene | ERN1 | GO:0070054 | mRNA splicing, via endonucleolytic cleavage and ligation | 11779464|19328063|19622636|21317875 |
| Tgene | ERN1 | GO:0071333 | cellular response to glucose stimulus | 20103773 |
| Tgene | ERN1 | GO:1901142 | insulin metabolic process | 20103773 |
| Kinase Fusion gene breakpoints across PSAP (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene breakpoints across ERN1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * 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 | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ChiTaRS5.0 | AI799794 | PSAP | chr10 | 73595329 | ERN1 | chr17 | 62116509 |
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Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:73595329/:62116509) - 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 |
| PSAP | ERN1 |
| FUNCTION: Protein insertase that mediates insertion of transmembrane proteins into the mitochondrial outer membrane (PubMed:36264797). Catalyzes insertion of proteins with alpha-helical transmembrane regions, such as signal-anchored, tail-anchored and multi-pass membrane proteins (By similarity). Does not mediate insertion of beta-barrel transmembrane proteins (By similarity). May play a role in apoptosis (PubMed:12377771). {ECO:0000250|UniProtKB:Q9Y6C9, ECO:0000269|PubMed:12377771, ECO:0000269|PubMed:36264797}. | FUNCTION: Serine/threonine-protein kinase and endoribonuclease that acts as a key sensor for the endoplasmic reticulum unfolded protein response (UPR) (PubMed:11175748, PubMed:11779464, PubMed:12637535, PubMed:21317875, PubMed:28128204, PubMed:9637683, PubMed:30118681). In unstressed cells, the endoplasmic reticulum luminal domain is maintained in its inactive monomeric state by binding to the endoplasmic reticulum chaperone HSPA5/BiP (PubMed:21317875). Accumulation of misfolded proteins in the endoplasmic reticulum causes release of HSPA5/BiP, allowing the luminal domain to homodimerize, promoting autophosphorylation of the kinase domain and subsequent activation of the endoribonuclease activity (PubMed:21317875). The endoribonuclease activity is specific for XBP1 mRNA and excises 26 nucleotides from XBP1 mRNA (PubMed:11779464, PubMed:24508390, PubMed:21317875). The resulting spliced transcript of XBP1 encodes a transcriptional activator protein that up-regulates expression of UPR target genes (PubMed:11779464, PubMed:24508390, PubMed:21317875). Acts as an upstream signal for ER stress-induced GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane by modulating the expression and localization of SEC16A (PubMed:21884936, PubMed:28067262). {ECO:0000269|PubMed:11175748, ECO:0000269|PubMed:11779464, ECO:0000269|PubMed:12637535, ECO:0000269|PubMed:21317875, ECO:0000269|PubMed:21884936, ECO:0000269|PubMed:28067262, ECO:0000269|PubMed:28128204, ECO:0000269|PubMed:30118681, ECO:0000269|PubMed:9637683, ECO:0000305|PubMed:24508390}. |
| 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. |
| - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of PSAP_ERN1 |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| ERN1 | O75460 | human | ERN1 | O75460 | Y628 | EHPNVIRyFCTEkDR | Pkinase |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| ERN1 | ID | Description | 0.00e+00 |
| ERN1 | GO:1900103 | positive regulation of endoplasmic reticulum unfolded protein response | 1.66e-02 |
| ERN1 | GO:0000394 | RNA splicin | 7.42e-04 |
| ERN1 | GO:0036498 | IRE1-mediated unfolded protein response | 1.66e-02 |
| ERN1 | GO:1900101 | regulation of endoplasmic reticulum unfolded protein response | 1.66e-02 |
| ERN1 | GO:0043507 | positive regulation of JUN kinase activity | 1.66e-02 |
| ERN1 | GO:1905898 | positive regulation of response to endoplasmic reticulum stress | 1.66e-02 |
| ERN1 | GO:0043506 | regulation of JUN kinase activity | 1.66e-02 |
| ERN1 | GO:0033120 | positive regulation of RNA splicing | 1.66e-02 |
| ERN1 | GO:1904707 | positive regulation of vascular associated smooth muscle cell proliferation | 1.66e-02 |
| ERN1 | GO:0070059 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 1.66e-02 |
| ERN1 | GO:0070301 | cellular response to hydrogen peroxide | 1.66e-02 |
| ERN1 | GO:0030968 | endoplasmic reticulum unfolded protein response | 1.66e-02 |
| ERN1 | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 1.66e-02 |
| ERN1 | GO:1905897 | regulation of response to endoplasmic reticulum stress | 1.66e-02 |
| ERN1 | GO:0043406 | positive regulation of MAP kinase activity | 1.66e-02 |
| ERN1 | GO:0034620 | cellular response to unfolded protein | 1.66e-02 |
| ERN1 | GO:1904705 | regulation of vascular associated smooth muscle cell proliferation | 1.66e-02 |
| ERN1 | GO:1990874 | vascular associated smooth muscle cell proliferation | 1.66e-02 |
| ERN1 | GO:0048661 | positive regulation of smooth muscle cell proliferation | 1.66e-02 |
| ERN1 | GO:0042542 | response to hydrogen peroxide | 1.66e-02 |
| ERN1 | GO:0035967 | cellular response to topologically incorrect protein | 1.66e-02 |
| ERN1 | GO:0071333 | cellular response to glucose stimulus | 1.66e-02 |
| ERN1 | GO:0006986 | response to unfolded protein | 1.66e-02 |
| ERN1 | GO:0071331 | cellular response to hexose stimulus | 1.66e-02 |
| ERN1 | GO:0071326 | cellular response to monosaccharide stimulus | 1.66e-02 |
| ERN1 | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 1.66e-02 |
| ERN1 | GO:0043405 | regulation of MAP kinase activity | 1.66e-02 |
| ERN1 | GO:0071322 | cellular response to carbohydrate stimulus | 1.66e-02 |
| ERN1 | GO:0034614 | cellular response to reactive oxygen species | 1.66e-02 |
| ERN1 | GO:0001678 | intracellular glucose homeostasis | 1.66e-02 |
| ERN1 | GO:0016241 | regulation of macroautophagy | 1.66e-02 |
| ERN1 | GO:0035966 | response to topologically incorrect protein | 1.66e-02 |
| ERN1 | GO:0048660 | regulation of smooth muscle cell proliferation | 1.69e-02 |
| ERN1 | GO:0048659 | smooth muscle cell proliferation | 1.69e-02 |
| ERN1 | GO:0043484 | regulation of RNA splicing | 1.69e-02 |
| ERN1 | GO:0009749 | response to glucose | 1.69e-02 |
| ERN1 | GO:0009746 | response to hexose | 1.69e-02 |
| ERN1 | GO:0046777 | protein autophosphorylation | 1.69e-02 |
| ERN1 | GO:0001935 | endothelial cell proliferation | 1.69e-02 |
| ERN1 | GO:0000302 | response to reactive oxygen species | 1.69e-02 |
| ERN1 | GO:0034284 | response to monosaccharide | 1.69e-02 |
| ERN1 | GO:0009743 | response to carbohydrate | 1.84e-02 |
| ERN1 | GO:0033002 | muscle cell proliferation | 1.87e-02 |
| ERN1 | GO:0042593 | glucose homeostasis | 1.87e-02 |
| ERN1 | GO:0033500 | carbohydrate homeostasis | 1.87e-02 |
| ERN1 | GO:0034599 | cellular response to oxidative stress | 1.87e-02 |
| ERN1 | GO:0034976 | response to endoplasmic reticulum stress | 1.91e-02 |
| ERN1 | GO:0045860 | positive regulation of protein kinase activity | 1.96e-02 |
| ERN1 | GO:0071900 | regulation of protein serine/threonine kinase activity | 1.96e-02 |
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Related Drugs to PSAP_ERN1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning PSAP-ERN1 and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to PSAP_ERN1 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
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