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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:ESRP2-NDUFA1 (FusionGDB2 ID:27534) |
Fusion Gene Summary for ESRP2-NDUFA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ESRP2-NDUFA1 | Fusion gene ID: 27534 | Hgene | Tgene | Gene symbol | ESRP2 | NDUFA1 | Gene ID | 80004 | 4694 |
| Gene name | epithelial splicing regulatory protein 2 | NADH:ubiquinone oxidoreductase subunit A1 | |
| Synonyms | RBM35B | CI-MWFE|MC1DN12|MWFE|ZNF183 | |
| Cytomap | 16q22.1 | Xq24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | epithelial splicing regulatory protein 2RNA binding motif protein 35ARNA-binding motif protein 35BRNA-binding protein 35B | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDaNADH-ubiquinone oxidoreductase MWFE subunitNADH:ubiquinone oxidoreductase (complex 1)complex I MWFE subunittype I dehydrogenase | |
| Modification date | 20200320 | 20200313 | |
| UniProtAcc | Q9H6T0 | Q9P0J0 | |
| Ensembl transtripts involved in fusion gene | ENST00000565858, ENST00000473183, | ENST00000371437, | |
| Fusion gene scores | * DoF score | 6 X 6 X 2=72 | 5 X 5 X 4=100 |
| # samples | 6 | 5 | |
| ** MAII score | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ESRP2 [Title/Abstract] AND NDUFA1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ESRP2(68260514)-NDUFA1(119005876), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | ESRP2 | GO:0043484 | regulation of RNA splicing | 19285943 |
| Fusion gene breakpoints across ESRP2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across NDUFA1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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 |
| ChiTaRS5.0 | N/A | CB162061 | ESRP2 | chr16 | 68260514 | - | NDUFA1 | chrX | 119005876 | + |
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Fusion Gene ORF analysis for ESRP2-NDUFA1 |
| 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 | ENST00000565858 | ENST00000371437 | ESRP2 | chr16 | 68260514 | - | NDUFA1 | chrX | 119005876 | + |
| intron-3CDS | ENST00000473183 | ENST00000371437 | ESRP2 | chr16 | 68260514 | - | NDUFA1 | chrX | 119005876 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| 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 |
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Fusion Genomic Features for ESRP2-NDUFA1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for ESRP2-NDUFA1 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ESRP2 | NDUFA1 |
| FUNCTION: mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2. {ECO:0000269|PubMed:19285943}. | FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:27626371). Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in CARD15-mediated innate mucosal responses and serve to regulate intestinal epithelial cell responses to microbes (PubMed:15753091). {ECO:0000269|PubMed:12628925, ECO:0000269|PubMed:12867595, ECO:0000269|PubMed:15753091, ECO:0000269|PubMed:27626371}. |
| 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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Fusion Gene Sequence for ESRP2-NDUFA1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for ESRP2-NDUFA1 |
| 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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Related Drugs for ESRP2-NDUFA1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | NDUFA1 | Q9P0J0 | DB00157 | NADH | Small molecule | Approved|Nutraceutical | |
| Tgene | NDUFA1 | Q9P0J0 | DB00157 | NADH | Small molecule | Approved|Nutraceutical | |
| Tgene | NDUFA1 | Q9P0J0 | DB00157 | NADH | Small molecule | Approved|Nutraceutical | |
| Tgene | NDUFA1 | Q9P0J0 | DB00157 | NADH | Small molecule | Approved|Nutraceutical |
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Related Diseases for ESRP2-NDUFA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ESRP2 | C0008924 | Cleft upper lip | 1 | GENOMICS_ENGLAND |
| Tgene | NDUFA1 | C0023264 | Leigh Disease | 10 | CLINGEN |
| Tgene | NDUFA1 | C1838951 | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | 10 | CLINGEN |
| Tgene | NDUFA1 | C1850597 | Leigh Syndrome Due To Mitochondrial Complex II Deficiency | 10 | CLINGEN |
| Tgene | NDUFA1 | C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | 10 | CLINGEN |
| Tgene | NDUFA1 | C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | 10 | CLINGEN |
| Tgene | NDUFA1 | C1850600 | Leigh Syndrome due to Mitochondrial Complex V Deficiency | 10 | CLINGEN |
| Tgene | NDUFA1 | C2931891 | Necrotizing encephalopathy, infantile subacute, of Leigh | 10 | CLINGEN |
| Tgene | NDUFA1 | C1838979 | MITOCHONDRIAL COMPLEX I DEFICIENCY | 7 | GENOMICS_ENGLAND;ORPHANET |
| Tgene | NDUFA1 | C0751651 | Mitochondrial Diseases | 2 | GENOMICS_ENGLAND |
| Tgene | NDUFA1 | C4746984 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 | 1 | GENOMICS_ENGLAND;UNIPROT |
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