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Fusion gene ID: 13038 |
FusionGeneSummary for FBN1_URI1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FBN1_URI1 | Fusion gene ID: 13038 | 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-1asprosinfibrillin 15fibrillin-1 preproprotein | unconventional prefoldin RPB5 interactor 1RNA polymerase II subunit 5-mediating proteinRPB5-mediating proteinprotein phosphatase 1, regulatory subunit 19 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P35555 | O94763 | |
| Ensembl transtripts involved in fusion gene | ENST00000316623, ENST00000561429, ENST00000560355, | ENST00000360605, ENST00000542441, ENST00000392271, ENST00000312051, ENST00000574176, | |
| Fusion gene scores | * DoF score | 8 X 8 X 4=256 | 4 X 5 X 4=80 |
| # samples | 8 | 5 | |
| ** MAII score | log2(8/256*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FBN1 [Title/Abstract] AND URI1 [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 |
| 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 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 |
| TCGA | LD | SARC | TCGA-LI-A9QH-01A | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| * 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 |
| In-frame | ENST00000316623 | ENST00000360605 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| In-frame | ENST00000316623 | ENST00000542441 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| 5CDS-5UTR | ENST00000316623 | ENST00000392271 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| 5CDS-5UTR | ENST00000316623 | ENST00000312051 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| 5CDS-intron | ENST00000316623 | ENST00000574176 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| intron-3CDS | ENST00000561429 | ENST00000360605 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| intron-3CDS | ENST00000561429 | ENST00000542441 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| intron-5UTR | ENST00000561429 | ENST00000392271 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| intron-5UTR | ENST00000561429 | ENST00000312051 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| intron-intron | ENST00000561429 | ENST00000574176 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| intron-3CDS | ENST00000560355 | ENST00000360605 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| intron-3CDS | ENST00000560355 | ENST00000542441 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| intron-5UTR | ENST00000560355 | ENST00000392271 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| intron-5UTR | ENST00000560355 | ENST00000312051 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
| intron-intron | ENST00000560355 | ENST00000574176 | FBN1 | chr15 | 48936803 | - | URI1 | chr19 | 30476130 | + |
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FusionProtFeatures for FBN1_URI1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FBN1 | URI1 |
| 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}. | Involved in gene transcription regulation. Acts as atranscriptional repressor in concert with the corepressor UXT toregulate androgen receptor (AR) transcription. May act as a tumorsuppressor to repress AR-mediated gene transcription and toinhibit anchorage-independent growth in prostate cancer cells.Required for cell survival in ovarian cancer cells. Together withUXT, associates with chromatin to the NKX3-1 promoter region.Antagonizes transcriptional modulation via hepatitis B virus Xprotein. Plays a central role in maintaining S6K1 signaling andBAD phosphorylation under normal growth conditions therebyprotecting cells from potential deleterious effects of sustainedS6K1 signaling. The URI1-PPP1CC complex acts as a centralcomponent of a negative feedback mechanism that counteractsexcessive S6K1 survival signaling to BAD in response to growthfactors. Mediates inhibition of PPP1CC phosphatase activity inmitochondria. Coordinates the regulation of nutrient-sensitivegene expression availability in a mTOR-dependent manner. Seems tobe a scaffolding protein able to assemble a prefoldin-like complexthat contains PFDs and proteins with roles in transcription andubiquitination. |
| 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 |
| Tgene | >URI1 | chr15:48936803 | chr19:30476130 | ENST00000360605 | + | 1 | 11 | 299_311 | 32 | 476 | Compositional bias | Note=Poly-Asp |
| Tgene | >URI1 | chr15:48936803 | chr19:30476130 | ENST00000360605 | + | 1 | 11 | 314_321 | 32 | 476 | Compositional bias | Note=Poly-Asp |
| Tgene | >URI1 | chr15:48936803 | chr19:30476130 | ENST00000392271 | + | 1 | 11 | 299_311 | -26 | 460 | Compositional bias | Note=Poly-Asp |
| Tgene | >URI1 | chr15:48936803 | chr19:30476130 | ENST00000392271 | + | 1 | 11 | 314_321 | -26 | 460 | Compositional bias | Note=Poly-Asp |
| Tgene | >URI1 | chr15:48936803 | chr19:30476130 | ENST00000542441 | + | 1 | 11 | 299_311 | 50 | 536 | Compositional bias | Note=Poly-Asp |
| Tgene | >URI1 | chr15:48936803 | chr19:30476130 | ENST00000542441 | + | 1 | 11 | 314_321 | 50 | 536 | Compositional bias | Note=Poly-Asp |
| - 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 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 402_446 | 54 | 2872 | Compositional bias | Note=Pro-rich |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1028_1069 | 54 | 2872 | Domain | EGF-like 15%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1070_1112 | 54 | 2872 | Domain | EGF-like 16%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1113_1154 | 54 | 2872 | Domain | EGF-like 17%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1155_1196 | 54 | 2872 | Domain | EGF-like 18%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 115_146 | 54 | 2872 | Domain | EGF-like 2 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1197_1237 | 54 | 2872 | Domain | EGF-like 19%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1238_1279 | 54 | 2872 | Domain | EGF-like 20%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1280_1321 | 54 | 2872 | Domain | EGF-like 21%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1322_1362 | 54 | 2872 | Domain | EGF-like 22%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1363_1403 | 54 | 2872 | Domain | EGF-like 23%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1404_1445 | 54 | 2872 | Domain | EGF-like 24%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1446_1486 | 54 | 2872 | Domain | EGF-like 25%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 147_178 | 54 | 2872 | Domain | EGF-like 3 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1487_1527 | 54 | 2872 | Domain | EGF-like 26%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1532_1589 | 54 | 2872 | Domain | Note=TB 6 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1606_1647 | 54 | 2872 | Domain | EGF-like 27%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1648_1688 | 54 | 2872 | Domain | EGF-like 28%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1693_1748 | 54 | 2872 | Domain | Note=TB 7 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1766_1807 | 54 | 2872 | Domain | EGF-like 29%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1808_1848 | 54 | 2872 | Domain | EGF-like 30%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1849_1890 | 54 | 2872 | Domain | EGF-like 31%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 184_236 | 54 | 2872 | Domain | Note=TB 1 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1891_1929 | 54 | 2872 | Domain | EGF-like 32%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1930_1972 | 54 | 2872 | Domain | EGF-like 33%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1973_2012 | 54 | 2872 | Domain | EGF-like 34%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2013_2054 | 54 | 2872 | Domain | EGF-like 35%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2059_2111 | 54 | 2872 | Domain | Note=TB 8 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2127_2165 | 54 | 2872 | Domain | EGF-like 36%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2166_2205 | 54 | 2872 | Domain | EGF-like 37%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2206_2246 | 54 | 2872 | Domain | EGF-like 38%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2247_2290 | 54 | 2872 | Domain | EGF-like 39%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2291_2332 | 54 | 2872 | Domain | EGF-like 40%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2337_2390 | 54 | 2872 | Domain | Note=TB 9 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2402_2443 | 54 | 2872 | Domain | EGF-like 41%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2444_2484 | 54 | 2872 | Domain | EGF-like 42%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 246_287 | 54 | 2872 | Domain | EGF-like 4%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2485_2523 | 54 | 2872 | Domain | EGF-like 43%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2524_2566 | 54 | 2872 | Domain | EGF-like 44%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2567_2606 | 54 | 2872 | Domain | EGF-like 45%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2607_2647 | 54 | 2872 | Domain | EGF-like 46%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 2648_2687 | 54 | 2872 | Domain | EGF-like 47%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 288_329 | 54 | 2872 | Domain | EGF-like 5%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 334_389 | 54 | 2872 | Domain | Note=TB 2 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 449_489 | 54 | 2872 | Domain | EGF-like 6 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 490_529 | 54 | 2872 | Domain | EGF-like 7%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 530_571 | 54 | 2872 | Domain | EGF-like 8%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 572_612 | 54 | 2872 | Domain | EGF-like 9%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 613_653 | 54 | 2872 | Domain | EGF-like 10%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 659_711 | 54 | 2872 | Domain | Note=TB 3 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 723_764 | 54 | 2872 | Domain | EGF-like 11%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 765_806 | 54 | 2872 | Domain | EGF-like 12%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 807_846 | 54 | 2872 | Domain | EGF-like 13%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 81_112 | 54 | 2872 | Domain | EGF-like 1 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 851_902 | 54 | 2872 | Domain | Note=TB 4 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 910_951 | 54 | 2872 | Domain | EGF-like 14%3B calcium-binding |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 956_1008 | 54 | 2872 | Domain | Note=TB 5 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1541_1543 | 54 | 2872 | Motif | Cell attachment site |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 1528_2731 | 54 | 2872 | Region | C-terminal domain |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 195_221 | 54 | 2872 | Region | Hybrid domain 1 |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 45_450 | 54 | 2872 | Region | N-terminal domain |
| Hgene | >FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 45_81 | 54 | 2872 | Region | Fibrillin unique N-terminal (FUN) domain |
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FusionGeneSequence for FBN1_URI1 |
| 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. |
| >In-frame_FBN1_ENST00000316623_chr15_48936803_-_URI1_ENST00000360605_chr19_30476130_+_498aa MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGKKVDNDYNALRERLSTLPDKLSYNIMVPFGPFAFM PGKLVHTNEVTVLLGDNWFAKCSAKQAVGLVEHRKEHVRKTIDDLKKVMKNFESRVEFTEDLQKMSDAAGDIVDIREEIKCDFEFKAKHR IAHKPHSKPKTSDIFEADIANDVKSKDLLADKELWARLEELERQEELLGELDSKPDTVIANGEDTTSSEEEKEDRNTNVNAMHQVTDSHT PCHKDVASSEPFSGQVNSQLNCSVNGSSSYHSDDDDDDDDDDDDDNIDDDDGDNDHEALGVGDNSIPTIYFSHTVEPKRVRINTGKNTTL KFSEKKEEAKRKRKNSTGSGHSAQELPTIRTPADIYRAFVDVVNGEYVPRKSILKSRSRENSVCSDTSESSAAEFDDRRGVLRSISCEEA >In-frame_FBN1_ENST00000316623_chr15_48936803_-_URI1_ENST00000542441_chr19_30476130_+_540aa MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGKKVDNDYNALRERLSTLPDKLSYNIMVPFGPFAFM PGKLVHTNEVTVLLGDNWFAKCSAKQAVGLVEHRKEHVRKTIDDLKKVMKNFESRVEFTEDLQKMSDAAGDIVDIREEIKCDFEFKAKHR IAHKPHSKPKTSDIFEADIANDVKSKDLLADKELWARLEELERQEELLGELDSKPDTVIANGEDTTSSEEEKEDRNTNVNAMHQVTDSHT PCHKDVASSEPFSGQVNSQLNCSVNGSSSYHSDDDDDDDDDDDDDNIDDDDGDNDHEALGVGDNSIPTIYFSHTVEPKRVRINTGKNTTL KFSEKKEEAKRKRKNSTGSGHSAQELPTIRTPADIYRAFVDVVNGEYVPRKSILKSRSRENSVCSDTSESSAAEFDDRRGVLRSISCEEA TCSDTSESILEEEPQENQKKLLPLSVTPEAFSGTVIEKEFVSPSLTPPPAIAHPALPTIPERKEVLLEASEETGKRVSKFKAARLQQKDX |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_FBN1_ENST00000316623_chr15_48936803_-_URI1_ENST00000360605_chr19_30476130_+_1494nt ATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTACACGAGCCATGGGGCGGACGCCAATTTGGAG GCTGGGAACGTGAAGGAAACCAGAGCCAGTCGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGGGAAGAAGGTAGATAAT GACTATAATGCCCTTCGAGAAAGACTCAGCACCTTGCCTGATAAATTGTCTTATAATATAATGGTACCATTTGGCCCTTTTGCCTTCATG CCAGGAAAACTTGTCCATACTAATGAAGTCACTGTTTTACTGGGGGACAACTGGTTTGCAAAGTGCTCAGCAAAGCAGGCTGTAGGTTTA GTTGAGCACCGGAAAGAACATGTAAGAAAAACAATAGATGACTTAAAAAAAGTGATGAAAAATTTTGAATCCAGAGTTGAATTCACAGAA GATTTGCAGAAAATGAGCGATGCTGCAGGTGATATTGTTGACATACGAGAAGAAATTAAATGTGACTTCGAATTTAAAGCAAAACACCGA ATTGCTCATAAACCGCATTCCAAACCAAAAACTTCAGATATTTTTGAAGCAGATATTGCAAATGATGTGAAATCCAAGGATTTGCTAGCT GATAAAGAACTGTGGGCTCGACTTGAAGAACTAGAGAGACAGGAAGAATTGCTGGGTGAACTTGATAGTAAGCCTGATACTGTGATTGCA AATGGAGAAGATACGACATCTTCTGAAGAGGAAAAGGAAGATCGTAACACAAATGTGAATGCGATGCATCAAGTAACAGACTCTCATACT CCTTGTCATAAGGATGTTGCAAGTTCAGAACCATTCAGTGGTCAAGTGAATAGTCAGTTGAACTGTTCAGTGAATGGTTCCAGTTCTTAC CACAGTGATGATGATGATGATGATGATGATGACGACGACGACGACAACATTGACGACGATGATGGTGATAACGACCATGAGGCTTTAGGG GTTGGAGATAATTCTATACCAACAATATATTTTTCACATACTGTTGAGCCTAAGAGGGTCCGAATAAATACTGGAAAGAATACCACTTTA AAATTCAGTGAAAAGAAAGAAGAAGCCAAACGTAAACGAAAGAACAGCACTGGCAGTGGCCACTCTGCCCAGGAGCTGCCGACCATCAGG ACGCCTGCAGACATTTACAGAGCCTTTGTTGATGTTGTGAATGGAGAATATGTCCCTCGCAAATCCATCCTGAAGTCTCGAAGTAGAGAG AATAGTGTGTGTAGCGACACTAGTGAAAGCAGTGCTGCTGAATTTGATGATAGGCGGGGAGTTTTGAGGAGTATCAGCTGCGAAGAAGCC ACTTGCAGTGACACCAGTGAGAGCATTTTGGAAGAGGAACCACAAGAAAATCAAAAGAAACTTTTGCCCTTATCAGTAACACCTGAGGTT >In-frame_FBN1_ENST00000316623_chr15_48936803_-_URI1_ENST00000542441_chr19_30476130_+_1620nt ATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTACACGAGCCATGGGGCGGACGCCAATTTGGAG GCTGGGAACGTGAAGGAAACCAGAGCCAGTCGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGGGAAGAAGGTAGATAAT GACTATAATGCCCTTCGAGAAAGACTCAGCACCTTGCCTGATAAATTGTCTTATAATATAATGGTACCATTTGGCCCTTTTGCCTTCATG CCAGGAAAACTTGTCCATACTAATGAAGTCACTGTTTTACTGGGGGACAACTGGTTTGCAAAGTGCTCAGCAAAGCAGGCTGTAGGTTTA GTTGAGCACCGGAAAGAACATGTAAGAAAAACAATAGATGACTTAAAAAAAGTGATGAAAAATTTTGAATCCAGAGTTGAATTCACAGAA GATTTGCAGAAAATGAGCGATGCTGCAGGTGATATTGTTGACATACGAGAAGAAATTAAATGTGACTTCGAATTTAAAGCAAAACACCGA ATTGCTCATAAACCGCATTCCAAACCAAAAACTTCAGATATTTTTGAAGCAGATATTGCAAATGATGTGAAATCCAAGGATTTGCTAGCT GATAAAGAACTGTGGGCTCGACTTGAAGAACTAGAGAGACAGGAAGAATTGCTGGGTGAACTTGATAGTAAGCCTGATACTGTGATTGCA AATGGAGAAGATACGACATCTTCTGAAGAGGAAAAGGAAGATCGTAACACAAATGTGAATGCGATGCATCAAGTAACAGACTCTCATACT CCTTGTCATAAGGATGTTGCAAGTTCAGAACCATTCAGTGGTCAAGTGAATAGTCAGTTGAACTGTTCAGTGAATGGTTCCAGTTCTTAC CACAGTGATGATGATGATGATGATGATGATGACGACGACGACGACAACATTGACGACGATGATGGTGATAACGACCATGAGGCTTTAGGG GTTGGAGATAATTCTATACCAACAATATATTTTTCACATACTGTTGAGCCTAAGAGGGTCCGAATAAATACTGGAAAGAATACCACTTTA AAATTCAGTGAAAAGAAAGAAGAAGCCAAACGTAAACGAAAGAACAGCACTGGCAGTGGCCACTCTGCCCAGGAGCTGCCGACCATCAGG ACGCCTGCAGACATTTACAGAGCCTTTGTTGATGTTGTGAATGGAGAATATGTCCCTCGCAAATCCATCCTGAAGTCTCGAAGTAGAGAG AATAGTGTGTGTAGCGACACTAGTGAAAGCAGTGCTGCTGAATTTGATGATAGGCGGGGAGTTTTGAGGAGTATCAGCTGCGAAGAAGCC ACTTGCAGTGACACCAGTGAGAGCATTTTGGAAGAGGAACCACAAGAAAATCAAAAGAAACTTTTGCCCTTATCAGTAACACCTGAGGCT TTTTCTGGAACTGTTATAGAAAAAGAATTTGTATCACCTTCCTTAACACCACCCCCAGCCATTGCTCATCCCGCACTACCCACTATTCCA GAACGAAAGGAAGTTCTGTTGGAAGCATCTGAAGAAACTGGAAAGAGGGTTTCAAAGTTTAAAGCTGCCAGATTGCAACAGAAAGACTAG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_FBN1_ENST00000316623_chr15_48936803_-_URI1_ENST00000360605_chr19_30476130_+_2053nt GTGGTGATGAGGGCGACGAAGGAGGGGGTGTCATTTTCTTTTTCTTTCTTTTTTTAAAAAAAGTATTTCTCTCGCGAGAAACCGCTGCGC GGACGATACTTGAAGAGGTGGGGAAAGGAGGGGGCTGCGGGAGCCGCGGCAGAGACTGTGGGTGCCACAAGCGGACAGGAGCCACAGCTG GGACAGCTGCGAGCGGAGCCGAGCAGTGGCTGTAGCGGCCACGACTGGGAGCAGCCGCCGCCGCCTCCTCGGGAGTCGGAGCCGCCGCTT CTCCACTGGCAGGGGCCGCCTGAAGTGGGAGCAGCGCCTGGAGAAGGCGGGAGGAGCCCGGCCCGGGGGACGGGCGGCGGGATAGCGGGA CCCCGGCGGCGCGGTGCGCTTCAGGGCGCAGCGGCGGCCGCAGACCGAGCCCCGGGCGCGGCAAGAGGCGGCGGGAGCCGGTGGCGGCTC GGCATCATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTACACGAGCCATGGGGCGGACGCCAAT TTGGAGGCTGGGAACGTGAAGGAAACCAGAGCCAGTCGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGGGAAGAAGGTA GATAATGACTATAATGCCCTTCGAGAAAGACTCAGCACCTTGCCTGATAAATTGTCTTATAATATAATGGTACCATTTGGCCCTTTTGCC TTCATGCCAGGAAAACTTGTCCATACTAATGAAGTCACTGTTTTACTGGGGGACAACTGGTTTGCAAAGTGCTCAGCAAAGCAGGCTGTA GGTTTAGTTGAGCACCGGAAAGAACATGTAAGAAAAACAATAGATGACTTAAAAAAAGTGATGAAAAATTTTGAATCCAGAGTTGAATTC ACAGAAGATTTGCAGAAAATGAGCGATGCTGCAGGTGATATTGTTGACATACGAGAAGAAATTAAATGTGACTTCGAATTTAAAGCAAAA CACCGAATTGCTCATAAACCGCATTCCAAACCAAAAACTTCAGATATTTTTGAAGCAGATATTGCAAATGATGTGAAATCCAAGGATTTG CTAGCTGATAAAGAACTGTGGGCTCGACTTGAAGAACTAGAGAGACAGGAAGAATTGCTGGGTGAACTTGATAGTAAGCCTGATACTGTG ATTGCAAATGGAGAAGATACGACATCTTCTGAAGAGGAAAAGGAAGATCGTAACACAAATGTGAATGCGATGCATCAAGTAACAGACTCT CATACTCCTTGTCATAAGGATGTTGCAAGTTCAGAACCATTCAGTGGTCAAGTGAATAGTCAGTTGAACTGTTCAGTGAATGGTTCCAGT TCTTACCACAGTGATGATGATGATGATGATGATGATGACGACGACGACGACAACATTGACGACGATGATGGTGATAACGACCATGAGGCT TTAGGGGTTGGAGATAATTCTATACCAACAATATATTTTTCACATACTGTTGAGCCTAAGAGGGTCCGAATAAATACTGGAAAGAATACC ACTTTAAAATTCAGTGAAAAGAAAGAAGAAGCCAAACGTAAACGAAAGAACAGCACTGGCAGTGGCCACTCTGCCCAGGAGCTGCCGACC ATCAGGACGCCTGCAGACATTTACAGAGCCTTTGTTGATGTTGTGAATGGAGAATATGTCCCTCGCAAATCCATCCTGAAGTCTCGAAGT AGAGAGAATAGTGTGTGTAGCGACACTAGTGAAAGCAGTGCTGCTGAATTTGATGATAGGCGGGGAGTTTTGAGGAGTATCAGCTGCGAA GAAGCCACTTGCAGTGACACCAGTGAGAGCATTTTGGAAGAGGAACCACAAGAAAATCAAAAGAAACTTTTGCCCTTATCAGTAACACCT GAGGTTTTGCGGCTAGTTGGCTATTCAAGAAACCTCGCCCCTCTGAATGTCATACTGTAATCTTTAAGGAAGAAAGCTACATGAATTAAT >In-frame_FBN1_ENST00000316623_chr15_48936803_-_URI1_ENST00000542441_chr19_30476130_+_2707nt GTGGTGATGAGGGCGACGAAGGAGGGGGTGTCATTTTCTTTTTCTTTCTTTTTTTAAAAAAAGTATTTCTCTCGCGAGAAACCGCTGCGC GGACGATACTTGAAGAGGTGGGGAAAGGAGGGGGCTGCGGGAGCCGCGGCAGAGACTGTGGGTGCCACAAGCGGACAGGAGCCACAGCTG GGACAGCTGCGAGCGGAGCCGAGCAGTGGCTGTAGCGGCCACGACTGGGAGCAGCCGCCGCCGCCTCCTCGGGAGTCGGAGCCGCCGCTT CTCCACTGGCAGGGGCCGCCTGAAGTGGGAGCAGCGCCTGGAGAAGGCGGGAGGAGCCCGGCCCGGGGGACGGGCGGCGGGATAGCGGGA CCCCGGCGGCGCGGTGCGCTTCAGGGCGCAGCGGCGGCCGCAGACCGAGCCCCGGGCGCGGCAAGAGGCGGCGGGAGCCGGTGGCGGCTC GGCATCATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTACACGAGCCATGGGGCGGACGCCAAT TTGGAGGCTGGGAACGTGAAGGAAACCAGAGCCAGTCGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGGGAAGAAGGTA GATAATGACTATAATGCCCTTCGAGAAAGACTCAGCACCTTGCCTGATAAATTGTCTTATAATATAATGGTACCATTTGGCCCTTTTGCC TTCATGCCAGGAAAACTTGTCCATACTAATGAAGTCACTGTTTTACTGGGGGACAACTGGTTTGCAAAGTGCTCAGCAAAGCAGGCTGTA GGTTTAGTTGAGCACCGGAAAGAACATGTAAGAAAAACAATAGATGACTTAAAAAAAGTGATGAAAAATTTTGAATCCAGAGTTGAATTC ACAGAAGATTTGCAGAAAATGAGCGATGCTGCAGGTGATATTGTTGACATACGAGAAGAAATTAAATGTGACTTCGAATTTAAAGCAAAA CACCGAATTGCTCATAAACCGCATTCCAAACCAAAAACTTCAGATATTTTTGAAGCAGATATTGCAAATGATGTGAAATCCAAGGATTTG CTAGCTGATAAAGAACTGTGGGCTCGACTTGAAGAACTAGAGAGACAGGAAGAATTGCTGGGTGAACTTGATAGTAAGCCTGATACTGTG ATTGCAAATGGAGAAGATACGACATCTTCTGAAGAGGAAAAGGAAGATCGTAACACAAATGTGAATGCGATGCATCAAGTAACAGACTCT CATACTCCTTGTCATAAGGATGTTGCAAGTTCAGAACCATTCAGTGGTCAAGTGAATAGTCAGTTGAACTGTTCAGTGAATGGTTCCAGT TCTTACCACAGTGATGATGATGATGATGATGATGATGACGACGACGACGACAACATTGACGACGATGATGGTGATAACGACCATGAGGCT TTAGGGGTTGGAGATAATTCTATACCAACAATATATTTTTCACATACTGTTGAGCCTAAGAGGGTCCGAATAAATACTGGAAAGAATACC ACTTTAAAATTCAGTGAAAAGAAAGAAGAAGCCAAACGTAAACGAAAGAACAGCACTGGCAGTGGCCACTCTGCCCAGGAGCTGCCGACC ATCAGGACGCCTGCAGACATTTACAGAGCCTTTGTTGATGTTGTGAATGGAGAATATGTCCCTCGCAAATCCATCCTGAAGTCTCGAAGT AGAGAGAATAGTGTGTGTAGCGACACTAGTGAAAGCAGTGCTGCTGAATTTGATGATAGGCGGGGAGTTTTGAGGAGTATCAGCTGCGAA GAAGCCACTTGCAGTGACACCAGTGAGAGCATTTTGGAAGAGGAACCACAAGAAAATCAAAAGAAACTTTTGCCCTTATCAGTAACACCT GAGGCTTTTTCTGGAACTGTTATAGAAAAAGAATTTGTATCACCTTCCTTAACACCACCCCCAGCCATTGCTCATCCCGCACTACCCACT ATTCCAGAACGAAAGGAAGTTCTGTTGGAAGCATCTGAAGAAACTGGAAAGAGGGTTTCAAAGTTTAAAGCTGCCAGATTGCAACAGAAA GACTAGGCCCTGTCTAGGAAATGGGAATTTACATCCTAAAACCTAGTTGTTCATTTGTTTAGAGTATCTATAGCAAAATAGGTTACATGT AGTTTGAAATAAGGTATCCTGAGTTACTTTGGCAACAAGTTCTTTTACCCTTACCCGTGGTATTTGAAAAAAATCAAGGTAACTGTCTGA ATACTTTAATATCAGCTTGTTTTGTGAATTCTCTGAATACTGTCAACACTCTTATCTAAGTTTGCCTTTATGATGCAGTGGCAGCATTTT GAATTACTTTTCAAAGAATACTGTTCATATGCATTGTTTTTGTGTTTCAAACTAAATACAGGCAGTTTTGTGCCAGCTGTGATATTGTGC ATACCATATGGACCATTTTAAAGAAAATTTTAAAATTTCAAATAGATTCAACAATTACATTACTTGCTTTCACATTTTAAAGGCACTTTA AAAAAATCTACTTCTCTTGTAGGTTTTGCGGCTAGTTGGCTATTCAAGAAACCTCGCCCCTCTGAATGTCATACTGTAATCTTTAAGGAA GAAAGCTACATGAATTAATTGTACTCTATGGGAAAATTTCTTTGGAAAGATATTTTGTAAAACTTTTTTTTCCAAGTAAAAACTTTATGA |
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FusionGenePPI for FBN1_URI1 |
| 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 |
| FBN1 | MFAP2, FBLN2, MYOC, VCAN, ELN, ATXN7, SPRY2, ZFP41, ZNF408, C4orf26 | URI1 | DMAP1, URI1, POLR2E, RPAP2, RPAP3, RUVBL2, GPN1, UXT, APP, HSP90AA1, PPP1CC, RPS6KB1, RUVBL1, TTI1, ATF7, ITCH, NEDD4, PIH1D1, PPP1CA, SCP2, SKAP1, PPP1R3A, PDRG1, BLM, KRAS, HERC2, OFD1, NPHP1, XPO1, PPP1CB, POLR1A, POLR3E, PPEF2, ASB7, PFDN2, ZBBX, PPP1R7, ZNHIT2, TBC1D7, TSC1, POLR1C, POLR2A, POLR2B, POLR3A, POLR3B, PRPF8, TANGO6, WDR92, LMNA, PFDN6, PKP3, POLR3D, YWHAB, POLR2H, GPN3, MAT2A, RPL12P2, SUPT6H, KRT18, PCBP2, NOP58, PPP2CB, TRIM28, NOC4L, ZC3HAV1, RPRD1B, POLR1D, DNAJA2, PFDN5, PPP2R1A, PPP2CA |
| - 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 |
| Hgene | FBN1 | chr15:48936803 | chr19:30476130 | ENST00000316623 | - | 2 | 66 | 119_329 | 54 | 2872 | MFAP4 |
| - 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 FBN1_URI1 |
| 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 FBN1_URI1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FBN1 | C0024796 | Marfan Syndrome | 48 | CTD_human;ORPHANET;UNIPROT |
| Hgene | FBN1 | C3541518 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT | 5 | CTD_human;UNIPROT |
| Hgene | FBN1 | C0003496 | Aortic Rupture | 1 | CTD_human |
| Hgene | FBN1 | C0003706 | Arachnodactyly | 1 | CTD_human;HPO |
| Hgene | FBN1 | C0013581 | Ectopia Lentis | 1 | CTD_human;HPO;ORPHANET |
| Hgene | FBN1 | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | FBN1 | C0020456 | Hyperglycemia | 1 | CTD_human |
| Hgene | FBN1 | C0020459 | Hyperinsulinism | 1 | CTD_human |
| Hgene | FBN1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Hgene | FBN1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | FBN1 | C0162872 | Aortic Aneurysm, Thoracic | 1 | CTD_human |
| Hgene | FBN1 | C0265287 | Acromicric Dysplasia | 1 | ORPHANET;UNIPROT |
| Hgene | FBN1 | C1861456 | Stiff Skin Syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | FBN1 | C3280054 | GELEOPHYSIC DYSPLASIA 2 | 1 | UNIPROT |
| Tgene | URI1 | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| Tgene | URI1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
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