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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:FBL-HLA-E (FusionGDB2 ID:29518) |
Fusion Gene Summary for FBL-HLA-E |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FBL-HLA-E | Fusion gene ID: 29518 | Hgene | Tgene | Gene symbol | FBL | HLA-E | Gene ID | 2091 | 3133 |
| Gene name | fibrillarin | major histocompatibility complex, class I, E | |
| Synonyms | FIB|FLRN|Nop1|RNU3IP1 | HLA-6.2|QA1 | |
| Cytomap | 19q13.2 | 6p22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rRNA 2'-O-methyltransferase fibrillarin34 kDa nucleolar scleroderma antigen34-kD nucleolar scleroderma antigenRNA, U3 small nucleolar interacting protein 1histone-glutamine methyltransferase | HLA class I histocompatibility antigen, alpha chain EMHC class I antigen EMHC class Ib antigen | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P22087 | P13747 | |
| Ensembl transtripts involved in fusion gene | ENST00000221801, ENST00000593503, | ENST00000376630, ENST00000383597, ENST00000415289, ENST00000415649, ENST00000425603, ENST00000427936, ENST00000444683, | |
| Fusion gene scores | * DoF score | 11 X 9 X 4=396 | 3 X 3 X 2=18 |
| # samples | 11 | 3 | |
| ** MAII score | log2(11/396*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: FBL [Title/Abstract] AND HLA-E [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | FBL(40325135)-HLA-E(30461287), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | FBL | GO:0031167 | rRNA methylation | 30540930 |
| Hgene | FBL | GO:1990258 | histone glutamine methylation | 24352239|30540930 |
| Tgene | HLA-E | GO:0001815 | positive regulation of antibody-dependent cellular cytotoxicity | 30134159 |
| Tgene | HLA-E | GO:0001916 | positive regulation of T cell mediated cytotoxicity | 25631937 |
| Tgene | HLA-E | GO:0002250 | adaptive immune response | 25631937 |
| Tgene | HLA-E | GO:0002476 | antigen processing and presentation of endogenous peptide antigen via MHC class Ib | 9754572 |
| Tgene | HLA-E | GO:0002477 | antigen processing and presentation of exogenous peptide antigen via MHC class Ib | 30087334 |
| Tgene | HLA-E | GO:0002519 | natural killer cell tolerance induction | 9486650 |
| Tgene | HLA-E | GO:0002715 | regulation of natural killer cell mediated immunity | 18448674 |
| Tgene | HLA-E | GO:0002717 | positive regulation of natural killer cell mediated immunity | 9754572 |
| Tgene | HLA-E | GO:0002729 | positive regulation of natural killer cell cytokine production | 30134159 |
| Tgene | HLA-E | GO:0019731 | antibacterial humoral response | 25631937 |
| Tgene | HLA-E | GO:0032736 | positive regulation of interleukin-13 production | 25631937 |
| Tgene | HLA-E | GO:0032753 | positive regulation of interleukin-4 production | 25631937 |
| Tgene | HLA-E | GO:0032759 | positive regulation of TRAIL production | 25631937 |
| Tgene | HLA-E | GO:0032760 | positive regulation of tumor necrosis factor production | 25631937 |
| Tgene | HLA-E | GO:0032819 | positive regulation of natural killer cell proliferation | 30134159 |
| Tgene | HLA-E | GO:0036037 | CD8-positive, alpha-beta T cell activation | 25631937 |
| Tgene | HLA-E | GO:0042270 | protection from natural killer cell mediated cytotoxicity | 9754572|25631937 |
| Tgene | HLA-E | GO:0045953 | negative regulation of natural killer cell mediated cytotoxicity | 9486650|10799855|17179229|23335510 |
| Tgene | HLA-E | GO:0045954 | positive regulation of natural killer cell mediated cytotoxicity | 23335510 |
| Tgene | HLA-E | GO:0050830 | defense response to Gram-positive bacterium | 25631937 |
| Tgene | HLA-E | GO:0051024 | positive regulation of immunoglobulin secretion | 25631937 |
| Tgene | HLA-E | GO:2000566 | positive regulation of CD8-positive, alpha-beta T cell proliferation | 25631937 |
| Tgene | HLA-E | GO:2001187 | positive regulation of CD8-positive, alpha-beta T cell activation | 28676677 |
| Fusion gene breakpoints across FBL (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 HLA-E (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 |
| ChiTaRS5.0 | N/A | AW630569 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
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Fusion Gene ORF analysis for FBL-HLA-E |
| 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 | ENST00000221801 | ENST00000376630 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| intron-3UTR | ENST00000593503 | ENST00000376630 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| intron-intron | ENST00000221801 | ENST00000383597 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| intron-intron | ENST00000221801 | ENST00000415289 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| intron-intron | ENST00000221801 | ENST00000415649 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| intron-intron | ENST00000221801 | ENST00000425603 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| intron-intron | ENST00000221801 | ENST00000427936 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| intron-intron | ENST00000221801 | ENST00000444683 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| intron-intron | ENST00000593503 | ENST00000383597 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| intron-intron | ENST00000593503 | ENST00000415289 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| intron-intron | ENST00000593503 | ENST00000415649 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| intron-intron | ENST00000593503 | ENST00000425603 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| intron-intron | ENST00000593503 | ENST00000427936 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| intron-intron | ENST00000593503 | ENST00000444683 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 30461287 | + |
| 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 FBL-HLA-E |
| 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 FBL-HLA-E |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:40325135/:30461287) - 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 |
| FBL | HLA-E |
| FUNCTION: S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins (PubMed:24352239, PubMed:30540930, PubMed:32017898). Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA (PubMed:30540930). Site specificity is provided by a guide RNA that base pairs with the substrate (By similarity). Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA (By similarity). Probably catalyzes 2'-O-methylation of U6 snRNAs in box C/D RNP complexes (PubMed:32017898). U6 snRNA 2'-O-methylation is required for mRNA splicing fidelity (PubMed:32017898). Also acts as a protein methyltransferase by mediating methylation of 'Gln-105' of histone H2A (H2AQ104me), a modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus (PubMed:24352239, PubMed:30540930). {ECO:0000250|UniProtKB:P15646, ECO:0000269|PubMed:24352239, ECO:0000269|PubMed:30540930, ECO:0000269|PubMed:32017898}. | FUNCTION: Non-classical major histocompatibility class Ib molecule involved in immune self-nonself discrimination. In complex with B2M/beta-2-microglobulin binds nonamer self-peptides derived from the signal sequence of classical MHC class Ia molecules (VL9 peptides) (PubMed:9754572, PubMed:18083576, PubMed:18339401). Peptide-bound HLA-E-B2M heterotrimeric complex primarily functions as a ligand for natural killer (NK) cell inhibitory receptor KLRD1-KLRC1, enabling NK cells to monitor the expression of other MHC class I molecules in healthy cells and to tolerate self (PubMed:9754572, PubMed:9486650, PubMed:17179229, PubMed:18083576). Upon cellular stress, preferentially binds signal sequence-derived peptides from stress-induced chaperones and is no longer recognized by NK cell inhibitory receptor KLRD1-KLRC1, resulting in impaired protection from NK cells (PubMed:12461076). Binds signal sequence-derived peptides from non-classical MHC class Ib HLA-G molecules and acts as a ligand for NK cell activating receptor KLRD1-KLRC2, likely playing a role in the generation and effector functions of adaptive NK cells and in maternal-fetal tolerance during pregnancy (PubMed:9754572, PubMed:30134159). Besides self-peptides, can also bind and present pathogen-derived peptides conformationally similar to VL9 peptides to alpha-beta T cell receptor (TCR) on unconventional CD8+ cytotoxic T cells, ultimately triggering antimicrobial immune response (PubMed:16474394, PubMed:30087334). {ECO:0000269|PubMed:12461076, ECO:0000269|PubMed:16474394, ECO:0000269|PubMed:17179229, ECO:0000269|PubMed:18083576, ECO:0000269|PubMed:18339401, ECO:0000269|PubMed:30087334, ECO:0000269|PubMed:30134159, ECO:0000269|PubMed:9486650, ECO:0000269|PubMed:9754572}.; FUNCTION: (Microbial infection) Viruses like human cytomegalovirus have evolved an escape mechanism whereby virus-induced down-regulation of host MHC class I molecules is coupled to the binding of viral peptides to HLA-E, restoring HLA-E expression and inducing HLA-E-dependent NK cell immune tolerance to infected cells. {ECO:0000269|PubMed:10799855, ECO:0000269|PubMed:23335510}.; FUNCTION: (Microbial infection) May bind HIV-1 gag/Capsid protein p24-derived peptide (AISPRTLNA) on infected cells and may inhibit NK cell cytotoxicity, a mechanism that allows HIV-1 to escape immune recognition. {ECO:0000269|PubMed:15751767}.; FUNCTION: (Microbial infection) Upon SARS-CoV-2 infection, may contribute to functional exhaustion of cytotoxic NK cells and CD8-positive T cells (PubMed:32859121). Binds SARS-CoV-2 S/Spike protein S1-derived peptide (LQPRTFLL) expressed on the surface of lung epithelial cells, inducing NK cell exhaustion and dampening antiviral immune surveillance (PubMed:32859121). {ECO:0000269|PubMed:32859121}. |
| 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 FBL-HLA-E |
| 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 FBL-HLA-E |
| 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 FBL-HLA-E |
| 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 FBL-HLA-E |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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