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Fusion gene ID: 23214 |
FusionGeneSummary for MYOF_FBN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MYOF_FBN1 | Fusion gene ID: 23214 | Hgene | Tgene | Gene symbol | MYOF | FBN1 | Gene ID | 26509 | 2200 |
| Gene name | myoferlin | fibrillin 1 | |
| Synonyms | FER1L3 | ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2 | |
| Cytomap | 10q23.33 | 15q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | myoferlinfer-1-like 3, myoferlinfer-1-like family member 3fer-1-like protein 3 | fibrillin-1asprosinfibrillin 15fibrillin-1 preproprotein | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9NZM1 | P35555 | |
| Ensembl transtripts involved in fusion gene | ENST00000359263, ENST00000358334, ENST00000371501, ENST00000371502, ENST00000371489, ENST00000485212, ENST00000371488, | ENST00000316623, ENST00000561429, ENST00000560355, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 9 X 9 X 3=243 |
| # samples | 4 | 9 | |
| ** MAII score | log2(4/9*10)=2.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(9/243*10)=-1.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MYOF [Title/Abstract] AND FBN1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 |
| Tgene | FBN1 | GO:0033627 | cell adhesion mediated by integrin | 12807887|17158881 |
| Tgene | FBN1 | GO:0045671 | negative regulation of osteoclast differentiation | 24039232 |
| Tgene | FBN1 | GO:2001205 | negative regulation of osteoclast development | 24039232 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BG007318 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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-3UTR | ENST00000359263 | ENST00000316623 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000359263 | ENST00000561429 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000359263 | ENST00000560355 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-3UTR | ENST00000358334 | ENST00000316623 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000358334 | ENST00000561429 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000358334 | ENST00000560355 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-3UTR | ENST00000371501 | ENST00000316623 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000371501 | ENST00000561429 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000371501 | ENST00000560355 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-3UTR | ENST00000371502 | ENST00000316623 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000371502 | ENST00000561429 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000371502 | ENST00000560355 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-3UTR | ENST00000371489 | ENST00000316623 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000371489 | ENST00000561429 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000371489 | ENST00000560355 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-3UTR | ENST00000485212 | ENST00000316623 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000485212 | ENST00000561429 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000485212 | ENST00000560355 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-3UTR | ENST00000371488 | ENST00000316623 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000371488 | ENST00000561429 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
| intron-intron | ENST00000371488 | ENST00000560355 | MYOF | chr10 | 95105726 | - | FBN1 | chr15 | 48703034 | - |
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FusionProtFeatures for MYOF_FBN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MYOF | FBN1 |
| Fibrillin-1: Structural component of the 10-12 nmdiameter microfibrils of the extracellular matrix, which conveysboth structural and regulatory properties to load-bearingconnective tissues (PubMed:1860873, PubMed:15062093). Fibrillin-1-containing microfibrils provide long-term force bearing structuralsupport. In tissues such as the lung, blood vessels and skin,microfibrils form the periphery of the elastic fiber, acting as ascaffold for the deposition of elastin. In addition, microfibrilscan occur as elastin-independent networks in tissues such as theciliary zonule, tendon, cornea and glomerulus where they providetensile strength and have anchoring roles. Fibrillin-1 also playsa key role in tissue homeostasis through specific interactionswith growth factors, such as the bone morphogenetic proteins(BMPs), growth and differentiation factors (GDFs) and latenttransforming growth factor-beta-binding proteins (LTBPs), cell-surface integrins and other extracellular matrix protein andproteoglycan components (PubMed:27026396). Regulates osteoblastmaturation by controlling TGF-beta bioavailability and calibratingTGF-beta and BMP levels, respectively (By similarity). Negativelyregulates osteoclastogenesis by binding and sequestering anosteoclast differentiation and activation factor TNFSF11. Thisleads to disruption of TNFSF11-induced Ca(2+) signaling andimpairment of TNFSF11-mediated nuclear translocation andactivation of transcription factor NFATC1 which regulates genesimportant for osteoclast differentiation and function(PubMed:24039232). Mediates cell adhesion via its binding to cellsurface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1(PubMed:12807887, PubMed:17158881). Binds heparin and thisinteraction 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}. Asprosin: Hormone that targets the liver to increaseplasma glucose levels. Secreted by white adipose tissue andcirculates in the plasma. Acts in response to fasting and promotesblood glucose elevation by binding to the surface of hepatocytes.Promotes hepatocyte glucose release by activating the proteinkinase A activity in the liver, resulting in rapid glucose releaseinto the circulation. {ECO:0000269|PubMed:27087445}. |
| 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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FusionGeneSequence for MYOF_FBN1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for MYOF_FBN1 |
| 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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RelatedDrugs for MYOF_FBN1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MYOF_FBN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | FBN1 | C0024796 | Marfan Syndrome | 48 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FBN1 | C3541518 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT | 5 | CTD_human;UNIPROT |
| Tgene | FBN1 | C0003496 | Aortic Rupture | 1 | CTD_human |
| Tgene | FBN1 | C0003706 | Arachnodactyly | 1 | CTD_human;HPO |
| Tgene | FBN1 | C0013581 | Ectopia Lentis | 1 | CTD_human;HPO;ORPHANET |
| Tgene | FBN1 | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | FBN1 | C0020456 | Hyperglycemia | 1 | CTD_human |
| Tgene | FBN1 | C0020459 | Hyperinsulinism | 1 | CTD_human |
| Tgene | FBN1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Tgene | FBN1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | FBN1 | C0162872 | Aortic Aneurysm, Thoracic | 1 | CTD_human |
| Tgene | FBN1 | C0265287 | Acromicric Dysplasia | 1 | ORPHANET;UNIPROT |
| Tgene | FBN1 | C1861456 | Stiff Skin Syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FBN1 | C3280054 | GELEOPHYSIC DYSPLASIA 2 | 1 | UNIPROT |
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