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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:EPHB2-SYNC (FusionGDB2 ID:26995) |
Fusion Gene Summary for EPHB2-SYNC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EPHB2-SYNC | Fusion gene ID: 26995 | Hgene | Tgene | Gene symbol | EPHB2 | SYNC | Gene ID | 2048 | 81493 |
| Gene name | EPH receptor B2 | syncoilin, intermediate filament protein | |
| Synonyms | BDPLT22|CAPB|DRT|EK5|EPHT3|ERK|Hek5|PCBC|Tyro5 | SYNC1|SYNCOILIN | |
| Cytomap | 1p36.12 | 1p35.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ephrin type-B receptor 2EPH-like kinase 5developmentally-regulated Eph-related tyrosine kinaseelk-related tyrosine kinaseeph tyrosine kinase 3protein-tyrosine kinase HEK5renal carcinoma antigen NY-REN-47tyrosine-protein kinase TYRO5tyrosine-protei | syncoilinintermediate filament protein syncoilinsyncoilin intermediate filament 1syncoilin-1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P29323 | ERVFRD-1 | |
| Ensembl transtripts involved in fusion gene | ENST00000374627, ENST00000374630, ENST00000374632, ENST00000400191, ENST00000544305, ENST00000465676, | ENST00000373484, ENST00000409190, | |
| Fusion gene scores | * DoF score | 9 X 6 X 7=378 | 9 X 8 X 3=216 |
| # samples | 13 | 9 | |
| ** MAII score | log2(13/378*10)=-1.53987461119262 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/216*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EPHB2 [Title/Abstract] AND SYNC [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | EPHB2(23111569)-SYNC(33161645), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | EPHB2-SYNC seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. EPHB2-SYNC seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. EPHB2-SYNC seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor 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 |
| Fusion gene breakpoints across EPHB2 (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 SYNC (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 |
| ChimerDB4 | CESC | TCGA-C5-A8YQ-01A | EPHB2 | chr1 | 23111569 | + | SYNC | chr1 | 33161645 | - |
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Fusion Gene ORF analysis for EPHB2-SYNC |
| 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 |
| Frame-shift | ENST00000374627 | ENST00000373484 | EPHB2 | chr1 | 23111569 | + | SYNC | chr1 | 33161645 | - |
| Frame-shift | ENST00000374627 | ENST00000409190 | EPHB2 | chr1 | 23111569 | + | SYNC | chr1 | 33161645 | - |
| Frame-shift | ENST00000374630 | ENST00000373484 | EPHB2 | chr1 | 23111569 | + | SYNC | chr1 | 33161645 | - |
| Frame-shift | ENST00000374630 | ENST00000409190 | EPHB2 | chr1 | 23111569 | + | SYNC | chr1 | 33161645 | - |
| Frame-shift | ENST00000374632 | ENST00000373484 | EPHB2 | chr1 | 23111569 | + | SYNC | chr1 | 33161645 | - |
| Frame-shift | ENST00000374632 | ENST00000409190 | EPHB2 | chr1 | 23111569 | + | SYNC | chr1 | 33161645 | - |
| Frame-shift | ENST00000400191 | ENST00000373484 | EPHB2 | chr1 | 23111569 | + | SYNC | chr1 | 33161645 | - |
| Frame-shift | ENST00000400191 | ENST00000409190 | EPHB2 | chr1 | 23111569 | + | SYNC | chr1 | 33161645 | - |
| Frame-shift | ENST00000544305 | ENST00000373484 | EPHB2 | chr1 | 23111569 | + | SYNC | chr1 | 33161645 | - |
| Frame-shift | ENST00000544305 | ENST00000409190 | EPHB2 | chr1 | 23111569 | + | SYNC | chr1 | 33161645 | - |
| intron-3CDS | ENST00000465676 | ENST00000373484 | EPHB2 | chr1 | 23111569 | + | SYNC | chr1 | 33161645 | - |
| intron-3CDS | ENST00000465676 | ENST00000409190 | EPHB2 | chr1 | 23111569 | + | SYNC | chr1 | 33161645 | - |
| 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 EPHB2-SYNC |
| 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 EPHB2-SYNC |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:23111569/:33161645) - 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 |
| EPHB2 | SYNC |
| FUNCTION: Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Functions in axon guidance during development. Involved in the guidance of commissural axons, that form a major interhemispheric connection between the 2 temporal lobes of the cerebral cortex. Also involved in guidance of contralateral inner ear efferent growth cones at the midline and of retinal ganglion cell axons to the optic disk. In addition to axon guidance, also regulates dendritic spines development and maturation and stimulates the formation of excitatory synapses. Upon activation by EFNB1, abolishes the ARHGEF15-mediated negative regulation on excitatory synapse formation. Controls other aspects of development including angiogenesis, palate development and in inner ear development through regulation of endolymph production. Forward and reverse signaling through the EFNB2/EPHB2 complex regulate movement and adhesion of cells that tubularize the urethra and septate the cloaca. May function as a tumor suppressor. May be involved in the regulation of platelet activation and blood coagulation (PubMed:30213874). {ECO:0000269|PubMed:15300251, ECO:0000269|PubMed:30213874}. | 538 |
| 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 EPHB2-SYNC |
| 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 EPHB2-SYNC |
| 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 EPHB2-SYNC |
| 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 EPHB2-SYNC |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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