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Fusion Protein:FBN1-URI1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: FBN1-URI1 | FusionPDB ID: 29568 | FusionGDB2.0 ID: 29568 | Hgene | Tgene | Gene symbol | FBN1 | URI1 | Gene ID | 2200 | 8725 |
| Gene name | fibrillin 1 | URI1 prefoldin like chaperone | |
| Synonyms | ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2 | C19orf2|NNX3|PPP1R19|RMP|URI | |
| Cytomap | 15q21.1 | 19q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | fibrillin-1asprosinepididymis secretory sperm binding proteinfibrillin 15fibrillin-1 preproprotein | unconventional prefoldin RPB5 interactor 1RNA polymerase II subunit 5-mediating proteinRPB5-mediating proteinprotein phosphatase 1, regulatory subunit 19 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P35555 | O94763 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000316623, ENST00000560355, ENST00000561429, | ENST00000312051, ENST00000392271, ENST00000574176, ENST00000360605, ENST00000542441, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 15 X 17 X 7=1785 | 16 X 13 X 8=1664 |
| # samples | 17 | 18 | |
| ** MAII score | log2(17/1785*10)=-3.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(18/1664*10)=-3.20858662181142 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: FBN1 [Title/Abstract] AND URI1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | FBN1(48936803)-URI1(30476130), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | FBN1-URI1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. FBN1-URI1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. FBN1-URI1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. FBN1-URI1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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 |
| Tgene | URI1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12737519|15367675|21730289 |
| Tgene | URI1 | GO:0001558 | regulation of cell growth | 21730289 |
| Tgene | URI1 | GO:0071363 | cellular response to growth factor stimulus | 17936702 |
| Tgene | URI1 | GO:0071383 | cellular response to steroid hormone stimulus | 21730289 |
| 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. |
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| Fusion gene breakpoints across URI1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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-DX-AB2P-01A | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| ChimerDB4 | SARC | TCGA-LI-A9QH-01A | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000316623 | FBN1 | chr15 | 48936803 | - | ENST00000360605 | URI1 | chr19 | 30476130 | + | 2053 | 620 | 84 | 1949 | 621 |
| ENST00000316623 | FBN1 | chr15 | 48936803 | - | ENST00000542441 | URI1 | chr19 | 30476130 | + | 2707 | 620 | 84 | 2075 | 663 |
| 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 |
| ENST00000316623 | ENST00000360605 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + | 0.000821884 | 0.9991781 |
| ENST00000316623 | ENST00000542441 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + | 0.000583602 | 0.9994165 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >29568_29568_1_FBN1-URI1_FBN1_chr15_48936803_ENST00000316623_URI1_chr19_30476130_ENST00000360605_length(amino acids)=621AA_BP=57 MRGRYLKRWGKEGAAGAAAETVGATSGQEPQLGQLRAEPSSGCSGHDWEQPPPPPRESEPPLLHWQGPPEVGAAPGEGGRSPARGTGGGI AGPRRRGALQGAAAAADRAPGAARGGGSRWRLGIMRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGK KVDNDYNALRERLSTLPDKLSYNIMVPFGPFAFMPGKLVHTNEVTVLLGDNWFAKCSAKQAVGLVEHRKEHVRKTIDDLKKVMKNFESRV EFTEDLQKMSDAAGDIVDIREEIKCDFEFKAKHRIAHKPHSKPKTSDIFEADIANDVKSKDLLADKELWARLEELERQEELLGELDSKPD TVIANGEDTTSSEEEKEDRNTNVNAMHQVTDSHTPCHKDVASSEPFSGQVNSQLNCSVNGSSSYHSDDDDDDDDDDDDDNIDDDDGDNDH EALGVGDNSIPTIYFSHTVEPKRVRINTGKNTTLKFSEKKEEAKRKRKNSTGSGHSAQELPTIRTPADIYRAFVDVVNGEYVPRKSILKS -------------------------------------------------------------- >29568_29568_2_FBN1-URI1_FBN1_chr15_48936803_ENST00000316623_URI1_chr19_30476130_ENST00000542441_length(amino acids)=663AA_BP=57 MRGRYLKRWGKEGAAGAAAETVGATSGQEPQLGQLRAEPSSGCSGHDWEQPPPPPRESEPPLLHWQGPPEVGAAPGEGGRSPARGTGGGI AGPRRRGALQGAAAAADRAPGAARGGGSRWRLGIMRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGK KVDNDYNALRERLSTLPDKLSYNIMVPFGPFAFMPGKLVHTNEVTVLLGDNWFAKCSAKQAVGLVEHRKEHVRKTIDDLKKVMKNFESRV EFTEDLQKMSDAAGDIVDIREEIKCDFEFKAKHRIAHKPHSKPKTSDIFEADIANDVKSKDLLADKELWARLEELERQEELLGELDSKPD TVIANGEDTTSSEEEKEDRNTNVNAMHQVTDSHTPCHKDVASSEPFSGQVNSQLNCSVNGSSSYHSDDDDDDDDDDDDDNIDDDDGDNDH EALGVGDNSIPTIYFSHTVEPKRVRINTGKNTTLKFSEKKEEAKRKRKNSTGSGHSAQELPTIRTPADIYRAFVDVVNGEYVPRKSILKS RSRENSVCSDTSESSAAEFDDRRGVLRSISCEEATCSDTSESILEEEPQENQKKLLPLSVTPEAFSGTVIEKEFVSPSLTPPPAIAHPAL -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr15:48936803/chr19:30476130) - 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 | URI1 |
| 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: Involved in gene transcription regulation. Acts as a transcriptional repressor in concert with the corepressor UXT to regulate androgen receptor (AR) transcription. May act as a tumor suppressor to repress AR-mediated gene transcription and to inhibit anchorage-independent growth in prostate cancer cells. Required for cell survival in ovarian cancer cells. Together with UXT, associates with chromatin to the NKX3-1 promoter region. Antagonizes transcriptional modulation via hepatitis B virus X protein.; FUNCTION: Plays a central role in maintaining S6K1 signaling and BAD phosphorylation under normal growth conditions thereby protecting cells from potential deleterious effects of sustained S6K1 signaling. The URI1-PPP1CC complex acts as a central component of a negative feedback mechanism that counteracts excessive S6K1 survival signaling to BAD in response to growth factors. Mediates inhibition of PPP1CC phosphatase activity in mitochondria. Coordinates the regulation of nutrient-sensitive gene expression availability in a mTOR-dependent manner. Seems to be a scaffolding protein able to assemble a prefoldin-like complex that contains PFDs and proteins with roles in transcription and ubiquitination. |
| 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. |
| - 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 |
| Tgene | URI1 | chr15:48936803 | chr19:30476130 | ENST00000360605 | 1 | 11 | 299_311 | 32.666666666666664 | 476.0 | Compositional bias | Note=Poly-Asp | |
| Tgene | URI1 | chr15:48936803 | chr19:30476130 | ENST00000360605 | 1 | 11 | 314_321 | 32.666666666666664 | 476.0 | Compositional bias | Note=Poly-Asp | |
| Tgene | URI1 | chr15:48936803 | chr19:30476130 | ENST00000392271 | 1 | 11 | 299_311 | 0 | 460.0 | Compositional bias | Note=Poly-Asp | |
| Tgene | URI1 | chr15:48936803 | chr19:30476130 | ENST00000392271 | 1 | 11 | 314_321 | 0 | 460.0 | Compositional bias | Note=Poly-Asp | |
| Tgene | URI1 | chr15:48936803 | chr19:30476130 | ENST00000542441 | 1 | 11 | 299_311 | 50.666666666666664 | 536.0 | Compositional bias | Note=Poly-Asp | |
| Tgene | URI1 | chr15:48936803 | chr19:30476130 | ENST00000542441 | 1 | 11 | 314_321 | 50.666666666666664 | 536.0 | Compositional bias | Note=Poly-Asp |
| - 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 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 402_446 | 54.666666666666664 | 2872.0 | Compositional bias | Note=Pro-rich |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1028_1069 | 54.666666666666664 | 2872.0 | Domain | EGF-like 15%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1070_1112 | 54.666666666666664 | 2872.0 | Domain | EGF-like 16%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1113_1154 | 54.666666666666664 | 2872.0 | Domain | EGF-like 17%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1155_1196 | 54.666666666666664 | 2872.0 | Domain | EGF-like 18%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 115_146 | 54.666666666666664 | 2872.0 | Domain | EGF-like 2 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1197_1237 | 54.666666666666664 | 2872.0 | Domain | EGF-like 19%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1238_1279 | 54.666666666666664 | 2872.0 | Domain | EGF-like 20%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1280_1321 | 54.666666666666664 | 2872.0 | Domain | EGF-like 21%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1322_1362 | 54.666666666666664 | 2872.0 | Domain | EGF-like 22%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1363_1403 | 54.666666666666664 | 2872.0 | Domain | EGF-like 23%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1404_1445 | 54.666666666666664 | 2872.0 | Domain | EGF-like 24%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1446_1486 | 54.666666666666664 | 2872.0 | Domain | EGF-like 25%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 147_178 | 54.666666666666664 | 2872.0 | Domain | EGF-like 3 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1487_1527 | 54.666666666666664 | 2872.0 | Domain | EGF-like 26%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1532_1589 | 54.666666666666664 | 2872.0 | Domain | Note=TB 6 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1606_1647 | 54.666666666666664 | 2872.0 | Domain | EGF-like 27%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1648_1688 | 54.666666666666664 | 2872.0 | Domain | EGF-like 28%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1693_1748 | 54.666666666666664 | 2872.0 | Domain | Note=TB 7 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1766_1807 | 54.666666666666664 | 2872.0 | Domain | EGF-like 29%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1808_1848 | 54.666666666666664 | 2872.0 | Domain | EGF-like 30%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1849_1890 | 54.666666666666664 | 2872.0 | Domain | EGF-like 31%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 184_236 | 54.666666666666664 | 2872.0 | Domain | Note=TB 1 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1891_1929 | 54.666666666666664 | 2872.0 | Domain | EGF-like 32%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1930_1972 | 54.666666666666664 | 2872.0 | Domain | EGF-like 33%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1973_2012 | 54.666666666666664 | 2872.0 | Domain | EGF-like 34%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2013_2054 | 54.666666666666664 | 2872.0 | Domain | EGF-like 35%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2059_2111 | 54.666666666666664 | 2872.0 | Domain | Note=TB 8 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2127_2165 | 54.666666666666664 | 2872.0 | Domain | EGF-like 36%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2166_2205 | 54.666666666666664 | 2872.0 | Domain | EGF-like 37%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2206_2246 | 54.666666666666664 | 2872.0 | Domain | EGF-like 38%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2247_2290 | 54.666666666666664 | 2872.0 | Domain | EGF-like 39%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2291_2332 | 54.666666666666664 | 2872.0 | Domain | EGF-like 40%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2337_2390 | 54.666666666666664 | 2872.0 | Domain | Note=TB 9 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2402_2443 | 54.666666666666664 | 2872.0 | Domain | EGF-like 41%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2444_2484 | 54.666666666666664 | 2872.0 | Domain | EGF-like 42%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 246_287 | 54.666666666666664 | 2872.0 | Domain | EGF-like 4%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2485_2523 | 54.666666666666664 | 2872.0 | Domain | EGF-like 43%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2524_2566 | 54.666666666666664 | 2872.0 | Domain | EGF-like 44%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2567_2606 | 54.666666666666664 | 2872.0 | Domain | EGF-like 45%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2607_2647 | 54.666666666666664 | 2872.0 | Domain | EGF-like 46%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2648_2687 | 54.666666666666664 | 2872.0 | Domain | EGF-like 47%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 288_329 | 54.666666666666664 | 2872.0 | Domain | EGF-like 5%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 334_389 | 54.666666666666664 | 2872.0 | Domain | Note=TB 2 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 449_489 | 54.666666666666664 | 2872.0 | Domain | EGF-like 6 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 490_529 | 54.666666666666664 | 2872.0 | Domain | EGF-like 7%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 530_571 | 54.666666666666664 | 2872.0 | Domain | EGF-like 8%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 572_612 | 54.666666666666664 | 2872.0 | Domain | EGF-like 9%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 613_653 | 54.666666666666664 | 2872.0 | Domain | EGF-like 10%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 659_711 | 54.666666666666664 | 2872.0 | Domain | Note=TB 3 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 723_764 | 54.666666666666664 | 2872.0 | Domain | EGF-like 11%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 765_806 | 54.666666666666664 | 2872.0 | Domain | EGF-like 12%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 807_846 | 54.666666666666664 | 2872.0 | Domain | EGF-like 13%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 81_112 | 54.666666666666664 | 2872.0 | Domain | EGF-like 1 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 851_902 | 54.666666666666664 | 2872.0 | Domain | Note=TB 4 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 910_951 | 54.666666666666664 | 2872.0 | Domain | EGF-like 14%3B calcium-binding |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 956_1008 | 54.666666666666664 | 2872.0 | Domain | Note=TB 5 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1541_1543 | 54.666666666666664 | 2872.0 | Motif | Cell attachment site |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1528_2731 | 54.666666666666664 | 2872.0 | Region | C-terminal domain |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 195_221 | 54.666666666666664 | 2872.0 | Region | Hybrid domain 1 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 45_450 | 54.666666666666664 | 2872.0 | Region | N-terminal domain |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 45_81 | 54.666666666666664 | 2872.0 | Region | Fibrillin unique N-terminal (FUN) domain |
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Fusion Protein Structures |
| PDB and CIF files of the predicted fusion proteins * Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
| Fusion protein PDB link (fusion AA seq ID in FusionPDB) | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | AA seq | Len(AA seq) |
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pLDDT score distribution |
| pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
FBN1_pLDDT.png  |
URI1_pLDDT.png  |
| pLDDT score distribution of the predicted fusion protein structures from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
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Ramachandran Plot of Fusion Protein Structure |
| Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide. |
| Fusion AA seq ID in FusionPDB and their Ramachandran plots |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| FBN1 | |
| URI1 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 119_329 | 54.666666666666664 | 2872.0 | MFAP4 |
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Related Drugs to FBN1-URI1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to FBN1-URI1 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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