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Fusion Protein:ERN1-DHRSX |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ERN1-DHRSX | FusionPDB ID: 27440 | FusionGDB2.0 ID: 27440 | Hgene | Tgene | Gene symbol | ERN1 | DHRSX | Gene ID | 2081 | 207063 |
| Gene name | endoplasmic reticulum to nucleus signaling 1 | dehydrogenase/reductase X-linked | |
| Synonyms | IRE1|IRE1P|IRE1a|hIRE1p | CXorf11|DHRS5X|DHRS5Y|DHRSXY|DHRSY|SDR46C1|SDR7C6 | |
| Cytomap | 17q23.3 | Xp22.33 and Yp11.2 | |
| 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 | dehydrogenase/reductase SDR family member on chromosome Xdehydrogenase/reductase (SDR family) X chromosomedehydrogenase/reductase (SDR family) X-linkeddehydrogenase/reductase (SDR family) Y-linkedshort chain dehydrogenase/reductase family 46C member 1 | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | O75460 | Q8N5I4 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000433197, ENST00000577567, ENST00000606895, | ENST00000464935, ENST00000334651, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 7 X 9 X 7=441 | 17 X 16 X 8=2176 |
| # samples | 10 | 17 | |
| ** MAII score | log2(10/441*10)=-2.1407786557828 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(17/2176*10)=-3.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ERN1 [Title/Abstract] AND DHRSX [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ERN1(62149340)-DHRSX(2134988), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ERN1-DHRSX seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ERN1-DHRSX seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. | ||
| * 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:0034620 | cellular response to unfolded protein | 19328063 |
| 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 | 9637683|11779465|19328063|29198525 |
| Hgene | ERN1 | GO:0046777 | protein autophosphorylation | 9637683|19328063 |
| Hgene | ERN1 | GO:0070054 | mRNA splicing, via endonucleolytic cleavage and ligation | 11779464|19328063|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 breakpoints across ERN1 (5'-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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| Fusion gene breakpoints across DHRSX (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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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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 | OV | TCGA-25-1317 | ERN1 | chr17 | 62149340 | - | DHRSX | chrY | 2134988 | - |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000433197 | ERN1 | chr17 | 62149340 | - | ENST00000334651 | DHRSX | chrY | 2134988 | - | 2704 | 574 | 27 | 1178 | 383 |
| 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 |
| ENST00000433197 | ENST00000334651 | ERN1 | chr17 | 62149340 | - | DHRSX | chrY | 2134988 | - | 0.001590793 | 0.9984092 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >27440_27440_1_ERN1-DHRSX_ERN1_chr17_62149340_ENST00000433197_DHRSX_chrY_2134988_ENST00000334651_length(amino acids)=383AA_BP=182 MSSRRPRPVLCPYRPRSQGRVLAMPARRLLLLLTLLLPGLGIFGSTSTVTLPETLLFVSTLDGSLHAVSKRTGSIKWTLKEDPVLQVPTH VEEPAFLPDPNDGSLYTLGSKNNEGLTKLPFTIPELVQASPCRSSDGILYMGKKQDIWYVIDLLTGEKQQTLSSAFADSLCPSTSLLYLG RTAGVMMVPQRKTRDGFEEHFGLNYLGHFLLTNLLLDTLKESGSPGHSARVVTVSSATHYVAELNMDDLQSSACYSPHAAYAQSKLALVL FTYHLQRLLAAEGSHVTANVVDPGVVNTDVYKHVFWATRLAKKLLGWLLFKTPDEGAWTSIYAAVTPELEGVGGHYLYNEKETKSLHVTY -------------------------------------------------------------- |
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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/chr17:62149340/chrY:2134988) - 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 |
| ERN1 | DHRSX |
| FUNCTION: Serine/threonine-protein kinase and endoribonuclease that acts as a key sensor for the endoplasmic reticulum unfolded protein response (UPR) (PubMed:11779464, PubMed:11175748, PubMed:12637535, PubMed:9637683, PubMed:21317875, PubMed:28128204). 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:9637683, ECO:0000305|PubMed:24508390}. | FUNCTION: Involved in the positive regulation of starvation-induced autophagy (PubMed:25076851). {ECO:0000269|PubMed:25076851}. |
| 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 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 |
| - 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 |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000433197 | - | 6 | 22 | 571_832 | 159.33333333333334 | 978.0 | Domain | Protein kinase |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000433197 | - | 6 | 22 | 835_963 | 159.33333333333334 | 978.0 | Domain | KEN |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000606895 | - | 1 | 1 | 571_832 | 0 | 71.0 | Domain | Protein kinase |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000606895 | - | 1 | 1 | 835_963 | 0 | 71.0 | Domain | KEN |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000433197 | - | 6 | 22 | 577_585 | 159.33333333333334 | 978.0 | Nucleotide binding | ATP |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000433197 | - | 6 | 22 | 643_645 | 159.33333333333334 | 978.0 | Nucleotide binding | ATP |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000433197 | - | 6 | 22 | 690_693 | 159.33333333333334 | 978.0 | Nucleotide binding | ATP |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000606895 | - | 1 | 1 | 577_585 | 0 | 71.0 | Nucleotide binding | ATP |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000606895 | - | 1 | 1 | 643_645 | 0 | 71.0 | Nucleotide binding | ATP |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000606895 | - | 1 | 1 | 690_693 | 0 | 71.0 | Nucleotide binding | ATP |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000433197 | - | 6 | 22 | 906_907 | 159.33333333333334 | 978.0 | Region | Interacts with hydroxy-aryl-aldehyde inhibitors |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000606895 | - | 1 | 1 | 906_907 | 0 | 71.0 | Region | Interacts with hydroxy-aryl-aldehyde inhibitors |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000433197 | - | 6 | 22 | 19_443 | 159.33333333333334 | 978.0 | Topological domain | Lumenal |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000433197 | - | 6 | 22 | 465_977 | 159.33333333333334 | 978.0 | Topological domain | Cytoplasmic |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000606895 | - | 1 | 1 | 19_443 | 0 | 71.0 | Topological domain | Lumenal |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000606895 | - | 1 | 1 | 465_977 | 0 | 71.0 | Topological domain | Cytoplasmic |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000433197 | - | 6 | 22 | 444_464 | 159.33333333333334 | 978.0 | Transmembrane | Helical |
| Hgene | ERN1 | chr17:62149340 | chrY:2134988 | ENST00000606895 | - | 1 | 1 | 444_464 | 0 | 71.0 | Transmembrane | Helical |
| Tgene | DHRSX | chr17:62149340 | chrY:2134988 | ENST00000334651 | 3 | 7 | 47_71 | 129.33333333333334 | 331.0 | Nucleotide binding | NAD or NADP |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| ERN1 | |
| DHRSX |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to ERN1-DHRSX |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ERN1-DHRSX |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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