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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:EPAS1-SYPL2 (FusionGDB2 ID:HG2034TG284612) |
Fusion Gene Summary for EPAS1-SYPL2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EPAS1-SYPL2 | Fusion gene ID: hg2034tg284612 | Hgene | Tgene | Gene symbol | EPAS1 | SYPL2 | Gene ID | 2034 | 284612 |
| Gene name | endothelial PAS domain protein 1 | synaptophysin like 2 | |
| Synonyms | ECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73 | MG29 | |
| Cytomap | ('EPAS1')('SYPL2') 2p21 | 1p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | endothelial PAS domain-containing protein 1EPAS-1HIF-1-alpha-like factorHIF-1alpha-like factorHIF-2-alphaHIF2-alphaPAS domain-containing protein 2basic-helix-loop-helix-PAS protein MOP2class E basic helix-loop-helix protein 73hypoxia-inducible fa | synaptophysin-like protein 2mitsugumin 29 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q99814 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000467888, ENST00000263734, | ||
| Fusion gene scores | * DoF score | 11 X 9 X 6=594 | 2 X 2 X 2=8 |
| # samples | 12 | 2 | |
| ** MAII score | log2(12/594*10)=-2.30742852519225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: EPAS1 [Title/Abstract] AND SYPL2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | EPAS1(46525076)-SYPL2(110009681), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | EPAS1-SYPL2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. EPAS1-SYPL2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. EPAS1-SYPL2 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. EPAS1-SYPL2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. EPAS1-SYPL2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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 | EPAS1 | GO:0001666 | response to hypoxia | 11782478 |
| Hgene | EPAS1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11573933 |
| Hgene | EPAS1 | GO:0071456 | cellular response to hypoxia | 11573933 |
| 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 | LIHC | TCGA-XR-A8TG-01A | EPAS1 | chr2 | 46525076 | - | SYPL2 | chr1 | 110009681 | + |
| ChimerDB4 | LIHC | TCGA-XR-A8TG-01A | EPAS1 | chr2 | 46525076 | + | SYPL2 | chr1 | 110009681 | + |
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Fusion Gene ORF analysis for EPAS1-SYPL2 |
| 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 |
| 3UTR-3CDS | ENST00000467888 | ENST00000369872 | EPAS1 | chr2 | 46525076 | + | SYPL2 | chr1 | 110009681 | + |
| 3UTR-3CDS | ENST00000467888 | ENST00000401021 | EPAS1 | chr2 | 46525076 | + | SYPL2 | chr1 | 110009681 | + |
| 3UTR-intron | ENST00000467888 | ENST00000475497 | EPAS1 | chr2 | 46525076 | + | SYPL2 | chr1 | 110009681 | + |
| 5CDS-intron | ENST00000263734 | ENST00000475497 | EPAS1 | chr2 | 46525076 | + | SYPL2 | chr1 | 110009681 | + |
| Frame-shift | ENST00000263734 | ENST00000369872 | EPAS1 | chr2 | 46525076 | + | SYPL2 | chr1 | 110009681 | + |
| Frame-shift | ENST00000263734 | ENST00000401021 | EPAS1 | chr2 | 46525076 | + | SYPL2 | chr1 | 110009681 | + |
| 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 EPAS1-SYPL2 |
| 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) |
| EPAS1 | chr2 | 46525076 | + | SYPL2 | chr1 | 110009680 | + | 0.069719955 | 0.9302801 |
| EPAS1 | chr2 | 46525076 | + | SYPL2 | chr1 | 110009680 | + | 0.069719955 | 0.9302801 |
| 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 EPAS1-SYPL2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:46525076/:110009681) - 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 |
| EPAS1 | . |
| FUNCTION: Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX1 seems to activate CTAD (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:P97481}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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 |
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Fusion Gene Sequence for EPAS1-SYPL2 |
| 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 EPAS1-SYPL2 |
| 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 EPAS1-SYPL2 |
| 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 |
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Related Diseases for EPAS1-SYPL2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EPAS1 | C2673187 | Erythrocytosis, Familial, 4 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | EPAS1 | C1708353 | Hereditary Paraganglioma-Pheochromocytoma Syndrome | 3 | CLINGEN |
| Hgene | EPAS1 | C0004403 | Autosome Abnormalities | 1 | CTD_human |
| Hgene | EPAS1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | EPAS1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | EPAS1 | C0008625 | Chromosome Aberrations | 1 | CTD_human |
| Hgene | EPAS1 | C0030421 | Paraganglioma | 1 | GENOMICS_ENGLAND |
| Hgene | EPAS1 | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | EPAS1 | C1266042 | Chromophobe Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | EPAS1 | C1266043 | Sarcomatoid Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | EPAS1 | C1266044 | Collecting Duct Carcinoma of the Kidney | 1 | CTD_human |
| Hgene | EPAS1 | C1306837 | Papillary Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | EPAS1 | C2973725 | Pulmonary arterial hypertension | 1 | GENOMICS_ENGLAND |
| Hgene | EPAS1 | C3203102 | Idiopathic pulmonary arterial hypertension | 1 | GENOMICS_ENGLAND |
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