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Fusion gene ID: 13025 |
FusionGeneSummary for FBL_HLA-E |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FBL_HLA-E | Fusion gene ID: 13025 | 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 | 20180523 | 20180523 | |
| UniProtAcc | P22087 | P13747 | |
| Ensembl transtripts involved in fusion gene | ENST00000221801, ENST00000593503, | ENST00000376630, ENST00000415649, ENST00000415289, ENST00000444683, ENST00000383597, ENST00000425603, ENST00000427936, | |
| Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 2 X 2 X 2=8 |
| # samples | 5 | 2 | |
| ** MAII score | log2(5/120*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: FBL [Title/Abstract] AND HLA-E [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 | FBL | GO:1990258 | histone glutamine methylation | 24352239 |
| 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: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: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: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: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 |
| 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 | AW630569 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| * 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-intron | ENST00000221801 | ENST00000376630 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| intron-intron | ENST00000221801 | ENST00000415649 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| intron-intron | ENST00000221801 | ENST00000415289 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| intron-intron | ENST00000221801 | ENST00000444683 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| intron-intron | ENST00000221801 | ENST00000383597 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| intron-intron | ENST00000221801 | ENST00000425603 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| intron-3UTR | ENST00000221801 | ENST00000427936 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| intron-intron | ENST00000593503 | ENST00000376630 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| intron-intron | ENST00000593503 | ENST00000415649 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| intron-intron | ENST00000593503 | ENST00000415289 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| intron-intron | ENST00000593503 | ENST00000444683 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| intron-intron | ENST00000593503 | ENST00000383597 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| intron-intron | ENST00000593503 | ENST00000425603 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
| intron-3UTR | ENST00000593503 | ENST00000427936 | FBL | chr19 | 40325135 | - | HLA-E | chr6 | 1793577 | + |
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FusionProtFeatures for FBL_HLA-E |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FBL | HLA-E |
| S-adenosyl-L-methionine-dependent methyltransferase thathas the ability to methylate both RNAs and proteins. Involved inpre-rRNA processing by catalyzing the site-specific 2'-hydroxylmethylation of ribose moieties in pre-ribosomal RNA. Sitespecificity is provided by a guide RNA that base pairs with thesubstrate. Methylation occurs at a characteristic distance fromthe sequence involved in base pairing with the guide RNA. Alsoacts as a protein methyltransferase by mediating methylation of'Gln-105' of histone H2A (H2AQ104me), a modification that impairsbinding of the FACT complex and is specifically present at 35Sribosomal DNA locus (PubMed:24352239).{ECO:0000269|PubMed:24352239}. | Preferably binds to a peptide derived from the signalsequence of most HLA-A, -B, -C and -G molecules. |
| 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 FBL_HLA-E |
| 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 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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RelatedDrugs for FBL_HLA-E |
| 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 FBL_HLA-E |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FBL | C0004364 | Autoimmune Diseases | 3 | CTD_human |
| Hgene | FBL | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | HLA-E | C0036341 | Schizophrenia | 5 | PSYGENET |
| Tgene | HLA-E | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | HLA-E | C0030491 | Parapsoriasis | 1 | CTD_human |
| Tgene | HLA-E | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Tgene | HLA-E | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
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