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Fusion gene ID: 40170 |
FusionGeneSummary for TUSC3_LOXL2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TUSC3_LOXL2 | Fusion gene ID: 40170 | Hgene | Tgene | Gene symbol | TUSC3 | LOXL2 | Gene ID | 7991 | 4017 |
| Gene name | tumor suppressor candidate 3 | lysyl oxidase like 2 | |
| Synonyms | D8S1992|M33|MRT22|MRT7|MagT2|N33|OST3A | LOR|LOR2|WS9-14 | |
| Cytomap | 8p22 | 8p21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tumor suppressor candidate 3magnesium uptake/transporter TUSC3oligosaccharyltransferase 3 homolog Aputative prostate cancer tumor suppressor | lysyl oxidase homolog 2lysyl oxidase related 2lysyl oxidase-like 2 delta e13lysyl oxidase-like 2 proteinlysyl oxidase-like protein 2lysyl oxidase-related protein 2lysyl oxidase-related protein WS9-14 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q13454 | Q9Y4K0 | |
| Ensembl transtripts involved in fusion gene | ENST00000503191, ENST00000382020, ENST00000506802, ENST00000509380, ENST00000503731, | ENST00000389131, ENST00000518472, | |
| Fusion gene scores | * DoF score | 5 X 5 X 5=125 | 4 X 3 X 4=48 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/125*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TUSC3 [Title/Abstract] AND LOXL2 [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 |
| Tgene | LOXL2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 25959397 |
| Tgene | LOXL2 | GO:0001837 | epithelial to mesenchymal transition | 16096638 |
| Tgene | LOXL2 | GO:0006464 | cellular protein modification process | 23319596 |
| Tgene | LOXL2 | GO:0018057 | peptidyl-lysine oxidation | 25959397|27735137 |
| Tgene | LOXL2 | GO:0045892 | negative regulation of transcription, DNA-templated | 16096638 |
| Tgene | LOXL2 | GO:0046688 | response to copper ion | 23319596 |
| 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 | RV | PRAD | TCGA-HC-7210-01A | TUSC3 | chr8 | 15601121 | + | LOXL2 | chr8 | 23225947 | - |
| * 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-5UTR | ENST00000503191 | ENST00000389131 | TUSC3 | chr8 | 15601121 | + | LOXL2 | chr8 | 23225947 | - |
| intron-intron | ENST00000503191 | ENST00000518472 | TUSC3 | chr8 | 15601121 | + | LOXL2 | chr8 | 23225947 | - |
| 5CDS-5UTR | ENST00000382020 | ENST00000389131 | TUSC3 | chr8 | 15601121 | + | LOXL2 | chr8 | 23225947 | - |
| 5CDS-intron | ENST00000382020 | ENST00000518472 | TUSC3 | chr8 | 15601121 | + | LOXL2 | chr8 | 23225947 | - |
| 5CDS-5UTR | ENST00000506802 | ENST00000389131 | TUSC3 | chr8 | 15601121 | + | LOXL2 | chr8 | 23225947 | - |
| 5CDS-intron | ENST00000506802 | ENST00000518472 | TUSC3 | chr8 | 15601121 | + | LOXL2 | chr8 | 23225947 | - |
| intron-5UTR | ENST00000509380 | ENST00000389131 | TUSC3 | chr8 | 15601121 | + | LOXL2 | chr8 | 23225947 | - |
| intron-intron | ENST00000509380 | ENST00000518472 | TUSC3 | chr8 | 15601121 | + | LOXL2 | chr8 | 23225947 | - |
| 5CDS-5UTR | ENST00000503731 | ENST00000389131 | TUSC3 | chr8 | 15601121 | + | LOXL2 | chr8 | 23225947 | - |
| 5CDS-intron | ENST00000503731 | ENST00000518472 | TUSC3 | chr8 | 15601121 | + | LOXL2 | chr8 | 23225947 | - |
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FusionProtFeatures for TUSC3_LOXL2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TUSC3 | LOXL2 |
| Acts as accessory component of the N-oligosaccharyltransferase (OST) complex which catalyzes the transfer of a highmannose oligosaccharide from a lipid-linked oligosaccharide donorto an asparagine residue within an Asn-X-Ser/Thr consensus motifin nascent polypeptide chains. Involved in N-glycosylation ofSTT3B-dependent substrates. Specifically required for theglycosylation of a subset of acceptor sites that are near cysteineresidues; in this function seems to act redundantly with MAGT1. Inits oxidized form proposed to form transient mixed disulfides witha glycoprotein substrate to facilitate access of STT3B to theunmodified acceptor site. Has also oxidoreductase-independentfunctions in the STT3B-containing OST complex possibly involvingsubstrate recognition. {ECO:0000269|PubMed:25135935,ECO:0000305|PubMed:12887896, ECO:0000305|PubMed:24685145}. Magnesium transporter. {ECO:0000269|PubMed:19717468}. | Mediates the post-translational oxidative deamination oflysine residues on target proteins leading to the formation ofdeaminated lysine (allysine) (PubMed:27735137). Acts as atranscription corepressor and specifically mediates deamination oftrimethylated 'Lys-4' of histone H3 (H3K4me3), a specific tag forepigenetic transcriptional activation (PubMed:27735137). Shows noactivity against histone H3 when it is trimethylated on 'Lys-9'(H3K9me3) or 'Lys-27' (H3K27me3) or when 'Lys-4' is monomethylated(H3K4me1) or dimethylated (H3K4me2) (PubMed:27735137). Alsomediates deamination of methylated TAF10, a member of thetranscription factor IID (TFIID) complex, which induces release ofTAF10 from promoters, leading to inhibition of TFIID-dependenttranscription (PubMed:25959397). LOXL2-mediated deamination ofTAF10 results in transcriptional repression of genes required forembryonic stem cell pluripotency including POU5F1/OCT4, NANOG,KLF4 and SOX2 (By similarity). Involved in epithelial tomesenchymal transition (EMT) via interaction with SNAI1 andparticipates in repression of E-cadherin CDH1, probably bymediating deamination of histone H3 (PubMed:16096638,PubMed:27735137, PubMed:24414204). During EMT, involved with SNAI1in negatively regulating pericentromeric heterochromatintranscription (PubMed:24239292). SNAI1 recruits LOXL2 topericentromeric regions to oxidize histone H3 and represstranscription which leads to release of heterochromatin componentCBX5/HP1A, enabling chromatin reorganization and acquisition ofmesenchymal traits (PubMed:24239292). Interacts with theendoplasmic reticulum protein HSPA5 which activates the IRE1-XBP1pathway of the unfolded protein response, leading to expression ofseveral transcription factors involved in EMT and subsequent EMTinduction (PubMed:28332555). Involved in E-cadherin repressionfollowing hypoxia, a hallmark of EMT believed to amplify tumoraggressiveness, suggesting that it may play a role in tumorprogression (PubMed:20026874). When secreted into theextracellular matrix, promotes cross-linking of extracellularmatrix proteins by mediating oxidative deamination of peptidyllysine residues in precursors to fibrous collagen and elastin(PubMed:20306300). Acts as a regulator of sprouting angiogenesis,probably via collagen IV scaffolding (PubMed:21835952). Acts as aregulator of chondrocyte differentiation, probably by regulatingexpression of factors that control chondrocyte differentiation (Bysimilarity). {ECO:0000250|UniProtKB:P58022,ECO:0000269|PubMed:16096638, ECO:0000269|PubMed:20026874,ECO:0000269|PubMed:20306300, ECO:0000269|PubMed:21835952,ECO:0000269|PubMed:24239292, ECO:0000269|PubMed:24414204,ECO:0000269|PubMed:25959397, ECO:0000269|PubMed:27735137}. |
| 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 TUSC3_LOXL2 |
| 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 TUSC3_LOXL2 |
| 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 |
| TUSC3 | BMI1, PPP1CA, FBXO6, PEX19, MCOLN3, SYNE4, HTR3C, RPN2, FAM122B, UPK1A, HTR3A, STXBP2, LIN54, SCN3B, STXBP1, NDRG3, GGT7, GABRA3, GABRD, SLC9A3R2, RNF185, CHRND, CHEK1, MAP2K1, TUBA1A | LOXL2 | PDIA3, MTA1, MTA2, RBBP4, RBBP7, SIN3A, HDAC1, EZH2, HIST1H3A, KLK11, TAZ, KLK5, IDS, PLAUR, TMEM25, IL12RB1, TINAGL1, LYZL2, RBM14-RBM4, OS9, DEFA1, WNT7A, PSG8, ADAMTS4, SCGB2A2, INSL5, LRP1, IK, DEFA5, FBXO7, TRIM25 |
| - 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 TUSC3_LOXL2 |
| 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 TUSC3_LOXL2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TUSC3 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | LOXL2 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Tgene | LOXL2 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Tgene | LOXL2 | C0019163 | Hepatitis B | 1 | CTD_human |
| Tgene | LOXL2 | C0019196 | Hepatitis C | 1 | CTD_human |
| Tgene | LOXL2 | C0019202 | Hepatolenticular Degeneration | 1 | CTD_human |
| Tgene | LOXL2 | C0023892 | Biliary cirrhosis | 1 | CTD_human |
| Tgene | LOXL2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | LOXL2 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | LOXL2 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
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