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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:SMG6-LTF (FusionGDB2 ID:84124) |
Fusion Gene Summary for SMG6-LTF |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMG6-LTF | Fusion gene ID: 84124 | Hgene | Tgene | Gene symbol | SMG6 | LTF | Gene ID | 23293 | 4057 |
| Gene name | SMG6 nonsense mediated mRNA decay factor | lactotransferrin | |
| Synonyms | C17orf31|EST1A|SMG-6|hSMG5/7a | GIG12|HEL110|HLF2|LF | |
| Cytomap | 17p13.3 | 3p21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | telomerase-binding protein EST1AEST1 telomerase component homolog Aever shorter telomeres 1Asmg-6 homolog, nonsense mediated mRNA decay factortelomerase subunit EST1A | lactotransferrinepididymis luminal protein 110growth-inhibiting protein 12kaliocin-1lactoferricinlactoferroxinneutrophil lactoferrintalalactoferrin | |
| Modification date | 20200320 | 20200313 | |
| UniProtAcc | . | P02788 | |
| Ensembl transtripts involved in fusion gene | ENST00000263073, ENST00000354901, ENST00000536871, ENST00000544865, ENST00000573166, | ENST00000231751, ENST00000417439, ENST00000426532, ENST00000493056, | |
| Fusion gene scores | * DoF score | 19 X 14 X 6=1596 | 6 X 8 X 4=192 |
| # samples | 19 | 6 | |
| ** MAII score | log2(19/1596*10)=-3.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/192*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMG6 [Title/Abstract] AND LTF [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | SMG6(2102003)-LTF(46477499), # 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 | SMG6 | GO:1904354 | negative regulation of telomere capping | 12676087 |
| Tgene | LTF | GO:0001817 | regulation of cytokine production | 20345905 |
| Tgene | LTF | GO:0002227 | innate immune response in mucosa | 12037568 |
| Tgene | LTF | GO:0019731 | antibacterial humoral response | 1599934|18714013 |
| Tgene | LTF | GO:0019732 | antifungal humoral response | 11083624 |
| Tgene | LTF | GO:0031640 | killing of cells of other organism | 9727055 |
| Tgene | LTF | GO:0031665 | negative regulation of lipopolysaccharide-mediated signaling pathway | 20345905 |
| Tgene | LTF | GO:0032680 | regulation of tumor necrosis factor production | 20345905 |
| Tgene | LTF | GO:0033690 | positive regulation of osteoblast proliferation | 15166119 |
| Tgene | LTF | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 20345905 |
| Tgene | LTF | GO:0045669 | positive regulation of osteoblast differentiation | 15166119 |
| Tgene | LTF | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 20345905 |
| Tgene | LTF | GO:0060349 | bone morphogenesis | 15166119 |
| Tgene | LTF | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 20345905 |
| Tgene | LTF | GO:1900229 | negative regulation of single-species biofilm formation in or on host organism | 12037568 |
| Tgene | LTF | GO:1902732 | positive regulation of chondrocyte proliferation | 15166119 |
| Tgene | LTF | GO:2000117 | negative regulation of cysteine-type endopeptidase activity | 12788072 |
| Fusion gene breakpoints across SMG6 (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 LTF (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 | GW493221 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
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Fusion Gene ORF analysis for SMG6-LTF |
| 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 | ENST00000263073 | ENST00000231751 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-3UTR | ENST00000354901 | ENST00000231751 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-3UTR | ENST00000536871 | ENST00000231751 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-3UTR | ENST00000544865 | ENST00000231751 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-3UTR | ENST00000573166 | ENST00000231751 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000263073 | ENST00000417439 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000263073 | ENST00000426532 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000263073 | ENST00000493056 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000354901 | ENST00000417439 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000354901 | ENST00000426532 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000354901 | ENST00000493056 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000536871 | ENST00000417439 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000536871 | ENST00000426532 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000536871 | ENST00000493056 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000544865 | ENST00000417439 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000544865 | ENST00000426532 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000544865 | ENST00000493056 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000573166 | ENST00000417439 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000573166 | ENST00000426532 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| intron-intron | ENST00000573166 | ENST00000493056 | SMG6 | chr17 | 2102003 | - | LTF | chr3 | 46477499 | + |
| 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 SMG6-LTF |
| 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 SMG6-LTF |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:2102003/:46477499) - 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 |
| . | LTF |
| FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. {ECO:0000269|PubMed:22900286}.; FUNCTION: [Lactotransferrin]: Major iron-binding and multifunctional protein found in exocrine fluids such as breast milk and mucosal secretions (PubMed:14573629, PubMed:1599934, PubMed:6802759, PubMed:3169987, PubMed:11179314, PubMed:12693969). Has antimicrobial activity, which depends on the extracellular cation concentration (PubMed:6802759). Antimicrobial properties include bacteriostasis, which is related to its ability to sequester free iron and thus inhibit microbial growth, as well as direct bactericidal properties leading to the release of lipopolysaccharides from the bacterial outer membrane (PubMed:14573629, PubMed:1599934, PubMed:6802759, PubMed:3169987, PubMed:11179314, PubMed:12693969). Can also prevent bacterial biofilm development in P.aeruginosa infection (PubMed:12037568). Has weak antifungal activity against C.albicans (PubMed:11083624). Has anabolic, differentiating and anti-apoptotic effects on osteoblasts and can also inhibit osteoclastogenesis, possibly playing a role in the regulation of bone growth (PubMed:15166119). Promotes binding of species C adenoviruses to epithelial cells, promoting adenovirus infection (PubMed:17079302). Can inhibit papillomavirus infections (PubMed:17481742). Stimulates the TLR4 signaling pathway leading to NF-kappa-B activation and subsequent pro-inflammatory cytokine production while also interfering with the lipopolysaccharide (LPS)-stimulated TLR4 signaling (PubMed:20345905). Inhibits neutrophil granulocyte migration to sites of apoptosis, when secreted by apoptotic cells (PubMed:19033648). Stimulates VEGFA-mediated endothelial cell migration and proliferation (PubMed:16842782). Binds heparin, chondroitin sulfate and possibly other glycosaminoglycans (GAGs) (PubMed:9359845). Also binds specifically to pneumococcal surface protein A (pspA), the lipid A portion of bacterial lipopolysaccharide (LPS), lysozyme and DNA (PubMed:9359845). {ECO:0000269|PubMed:11083624, ECO:0000269|PubMed:11179314, ECO:0000269|PubMed:12037568, ECO:0000269|PubMed:12693969, ECO:0000269|PubMed:14573629, ECO:0000269|PubMed:15166119, ECO:0000269|PubMed:1599934, ECO:0000269|PubMed:16842782, ECO:0000269|PubMed:17079302, ECO:0000269|PubMed:17481742, ECO:0000269|PubMed:19033648, ECO:0000269|PubMed:20345905, ECO:0000269|PubMed:3169987, ECO:0000269|PubMed:6802759, ECO:0000269|PubMed:9359845}.; FUNCTION: Lactoferricin binds to the bacterial surface and is crucial for the bactericidal functions. Has some antiviral activity against papillomavirus infection (PubMed:17481742). N-terminal region shows strong antifungal activity against C.albicans (PubMed:11083624). Contains two BBXB heparin-binding consensus sequences that appear to form the predominate functional GAG-binding site. {ECO:0000269|PubMed:11083624, ECO:0000269|PubMed:17481742}.; FUNCTION: [Kaliocin-1]: Has antimicrobial activity and is able to permeabilize different ions through liposomal membranes. {ECO:0000269|PubMed:12693969}.; FUNCTION: [Lactoferroxin-A]: Has opioid antagonist activity (PubMed:1369293). Shows preference for mu-receptor (PubMed:1369293). {ECO:0000269|PubMed:1369293}.; FUNCTION: [Lactoferroxin-B]: Has opioid antagonist activity (PubMed:1369293). Shows higher degrees of preference for kappa-receptors than for mu-receptors (PubMed:1369293). {ECO:0000269|PubMed:1369293}.; FUNCTION: [Lactoferroxin-C]: Has opioid antagonist activity (PubMed:1369293). Shows higher degrees of preference for kappa-receptors than for mu-receptors (PubMed:1369293). {ECO:0000269|PubMed:1369293}.; FUNCTION: The lactotransferrin transferrin-like domain 1 functions as a serine protease of the peptidase S60 family that cuts arginine rich regions (PubMed:12535064). This function contributes to the antimicrobial activity (PubMed:12535064). Shows a preferential cleavage at -Arg-Ser-Arg-Arg-|- and -Arg-Arg-Ser-Arg-|-, and of Z-Phe-Arg-|-aminomethylcoumarin sites (PubMed:12535064). {ECO:0000269|PubMed:12535064}.; FUNCTION: [Isoform DeltaLf]: transcription factor with antiproliferative properties and ability to induce cell cycle arrest (PubMed:15222485). Binds to the DeltaLf response element found in the SKP1, BAX, DCPS, and SELENOH promoters (PubMed:22320386). {ECO:0000269|PubMed:15222485, ECO:0000269|PubMed:22320386}. |
| 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 SMG6-LTF |
| 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 SMG6-LTF |
| 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 SMG6-LTF |
| 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 SMG6-LTF |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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