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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:FBN1-MYO5A (FusionGDB2 ID:29561) |
Fusion Gene Summary for FBN1-MYO5A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FBN1-MYO5A | Fusion gene ID: 29561 | Hgene | Tgene | Gene symbol | FBN1 | MYO5A | Gene ID | 2200 | 4644 |
| Gene name | fibrillin 1 | myosin VA | |
| Synonyms | ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2 | GS1|MYH12|MYO5|MYR12 | |
| Cytomap | 15q21.1 | 15q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | fibrillin-1asprosinepididymis secretory sperm binding proteinfibrillin 15fibrillin-1 preproprotein | unconventional myosin-Vadilute myosin heavy chain, non-musclemyosin Vmyosin VA (heavy chain 12, myoxin)myosin, heavy polypeptide kinasemyosin-12myosin-Vamyoxin | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P35555 | Q9Y4I1 | |
| Ensembl transtripts involved in fusion gene | ENST00000316623, ENST00000560355, ENST00000561429, | ENST00000356338, ENST00000358212, ENST00000399231, ENST00000399233, ENST00000553916, | |
| Fusion gene scores | * DoF score | 15 X 17 X 7=1785 | 13 X 14 X 7=1274 |
| # samples | 17 | 13 | |
| ** MAII score | log2(17/1785*10)=-3.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/1274*10)=-3.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FBN1 [Title/Abstract] AND MYO5A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | FBN1(48744759)-MYO5A(52725482), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | FBN1-MYO5A seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. FBN1-MYO5A 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 | FBN1 | GO:0033627 | cell adhesion mediated by integrin | 12807887|17158881 |
| Hgene | FBN1 | GO:0045671 | negative regulation of osteoclast differentiation | 24039232 |
| Hgene | FBN1 | GO:2001205 | negative regulation of osteoclast development | 24039232 |
| Fusion gene breakpoints across FBN1 (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 MYO5A (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 | SARC | TCGA-FX-A3TO-01A | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
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Fusion Gene ORF analysis for FBN1-MYO5A |
| 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 | ENST00000316623 | ENST00000356338 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| Frame-shift | ENST00000316623 | ENST00000358212 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| Frame-shift | ENST00000316623 | ENST00000399231 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| Frame-shift | ENST00000316623 | ENST00000399233 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| Frame-shift | ENST00000316623 | ENST00000553916 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| intron-3CDS | ENST00000560355 | ENST00000356338 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| intron-3CDS | ENST00000560355 | ENST00000358212 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| intron-3CDS | ENST00000560355 | ENST00000399231 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| intron-3CDS | ENST00000560355 | ENST00000399233 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| intron-3CDS | ENST00000560355 | ENST00000553916 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| intron-3CDS | ENST00000561429 | ENST00000356338 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| intron-3CDS | ENST00000561429 | ENST00000358212 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| intron-3CDS | ENST00000561429 | ENST00000399231 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| intron-3CDS | ENST00000561429 | ENST00000399233 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| intron-3CDS | ENST00000561429 | ENST00000553916 | FBN1 | chr15 | 48744759 | - | MYO5A | chr15 | 52725482 | - |
| 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 FBN1-MYO5A |
| 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 FBN1-MYO5A |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:48744759/:52725482) - 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 |
| FBN1 | MYO5A |
| FUNCTION: [Fibrillin-1]: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:1860873, PubMed:15062093). Fibrillin-1-containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring roles. Fibrillin-1 also plays a key role in tissue homeostasis through specific interactions with growth factors, such as the bone morphogenetic proteins (BMPs), growth and differentiation factors (GDFs) and latent transforming growth factor-beta-binding proteins (LTBPs), cell-surface integrins and other extracellular matrix protein and proteoglycan components (PubMed:27026396). Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity). Negatively regulates osteoclastogenesis by binding and sequestering an osteoclast differentiation and activation factor TNFSF11. This leads to disruption of TNFSF11-induced Ca(2+) signaling and impairment of TNFSF11-mediated nuclear translocation and activation of transcription factor NFATC1 which regulates genes important for osteoclast differentiation and function (PubMed:24039232). Mediates cell adhesion via its binding to cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1 (PubMed:12807887, PubMed:17158881). Binds heparin and this interaction has an important role in the assembly of microfibrils (PubMed:11461921). {ECO:0000250|UniProtKB:Q61554, ECO:0000269|PubMed:11461921, ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:15062093, ECO:0000269|PubMed:17158881, ECO:0000269|PubMed:1860873, ECO:0000269|PubMed:24039232, ECO:0000303|PubMed:27026396}.; FUNCTION: [Asprosin]: Hormone that targets the liver to increase plasma glucose levels. Secreted by white adipose tissue and circulates in the plasma. Acts in response to fasting and promotes blood glucose elevation by binding to the surface of hepatocytes. Promotes hepatocyte glucose release by activating the protein kinase A activity in the liver, resulting in rapid glucose release into the circulation. {ECO:0000269|PubMed:27087445}. | FUNCTION: Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation. {ECO:0000269|PubMed:10448864}. |
| 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 FBN1-MYO5A |
| 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 FBN1-MYO5A |
| 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 FBN1-MYO5A |
| 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 FBN1-MYO5A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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