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Fusion gene ID: 15321 |
FusionGeneSummary for GPX3_NSMCE1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GPX3_NSMCE1 | Fusion gene ID: 15321 | Hgene | Tgene | Gene symbol | GPX3 | NSMCE1 | Gene ID | 2878 | 197370 |
| Gene name | glutathione peroxidase 3 | NSE1 homolog, SMC5-SMC6 complex component | |
| Synonyms | GPx-P|GSHPx-3|GSHPx-P | NSE1 | |
| Cytomap | 5q33.1 | 16p12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | glutathione peroxidase 3GPx-3extracellular glutathione peroxidaseglutathione peroxidase 3 (plasma)plasma glutathione peroxidase | non-structural maintenance of chromosomes element 1 homolognon-SMC element 1 homolog | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P22352 | Q8WV22 | |
| Ensembl transtripts involved in fusion gene | ENST00000388825, ENST00000521722, ENST00000517973, | ENST00000361439, ENST00000565384, | |
| Fusion gene scores | * DoF score | 8 X 11 X 3=264 | 2 X 3 X 3=18 |
| # samples | 14 | 3 | |
| ** MAII score | log2(14/264*10)=-0.915111102413487 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: GPX3 [Title/Abstract] AND NSMCE1 [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 | GPX3 | GO:0051289 | protein homotetramerization | 3693360 |
| 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 | CV421185 | GPX3 | chr5 | 150408223 | - | NSMCE1 | chr16 | 27238540 | - |
| * 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 |
| 3UTR-intron | ENST00000388825 | ENST00000361439 | GPX3 | chr5 | 150408223 | - | NSMCE1 | chr16 | 27238540 | - |
| 3UTR-intron | ENST00000388825 | ENST00000565384 | GPX3 | chr5 | 150408223 | - | NSMCE1 | chr16 | 27238540 | - |
| intron-intron | ENST00000521722 | ENST00000361439 | GPX3 | chr5 | 150408223 | - | NSMCE1 | chr16 | 27238540 | - |
| intron-intron | ENST00000521722 | ENST00000565384 | GPX3 | chr5 | 150408223 | - | NSMCE1 | chr16 | 27238540 | - |
| intron-intron | ENST00000517973 | ENST00000361439 | GPX3 | chr5 | 150408223 | - | NSMCE1 | chr16 | 27238540 | - |
| intron-intron | ENST00000517973 | ENST00000565384 | GPX3 | chr5 | 150408223 | - | NSMCE1 | chr16 | 27238540 | - |
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FusionProtFeatures for GPX3_NSMCE1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GPX3 | NSMCE1 |
| Protects cells and enzymes from oxidative damage, bycatalyzing the reduction of hydrogen peroxide, lipid peroxides andorganic hydroperoxide, by glutathione. | RING-type zinc finger-containing E3 ubiquitin ligasethat assembles with melanoma antigen protein (MAGE) to catalyzethe direct transfer of ubiquitin from E2 ubiquitin-conjugatingenzyme to a specific substrate. Within MAGE-RING ubiquitin ligasecomplex, MAGE stimulates and specifies ubiquitin ligase activitylikely through recruitment and/or stabilization of the E2ubiquitin-conjugating enzyme at the E3:substrate complex. Involvedin maintenance of genome integrity, DNA damage response and DNArepair (PubMed:29225034, PubMed:20864041). NSMCE3/MAGEG1 andNSMCE1 ubiquitin ligase are components of SMC5-SMC6 complex andmay positively regulate homologous recombination-mediated DNArepair (PubMed:18086888). MAGEF1-NSMCE1 ubiquitin ligase promotesproteasomal degradation of MMS19, a key component of the cytosoliciron-sulfur protein assembly (CIA) machinery. Down-regulation ofMMS19 impairs the activity of several DNA repair and metabolismenzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that requireiron-sulfur clusters as cofactors (PubMed:29225034).{ECO:0000269|PubMed:18086888, ECO:0000269|PubMed:20864041,ECO:0000269|PubMed:29225034}. |
| 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 GPX3_NSMCE1 |
| 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 GPX3_NSMCE1 |
| 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 GPX3_NSMCE1 |
| 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 |
| Hgene | GPX3 | P22352 | DB00143 | Glutathione | Glutathione peroxidase 3 | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for GPX3_NSMCE1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GPX3 | C0014175 | Endometriosis | 2 | CTD_human |
| Hgene | GPX3 | C0024121 | Lung Neoplasms | 2 | CTD_human |
| Hgene | GPX3 | C0028754 | Obesity | 2 | CTD_human |
| Hgene | GPX3 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | GPX3 | C0015624 | Fanconi Syndrome | 1 | CTD_human |
| Hgene | GPX3 | C0021655 | Insulin Resistance | 1 | CTD_human |
| Hgene | GPX3 | C0023903 | Liver neoplasms | 1 | CTD_human |
| Hgene | GPX3 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | GPX3 | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |
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