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Fusion gene ID: 3775 |
FusionGeneSummary for BACE2_TMPRSS2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BACE2_TMPRSS2 | Fusion gene ID: 3775 | Hgene | Tgene | Gene symbol | BACE2 | TMPRSS2 | Gene ID | 25825 | 7113 |
| Gene name | beta-secretase 2 | transmembrane serine protease 2 | |
| Synonyms | AEPLC|ALP56|ASP1|ASP21|BAE2|CDA13|CEAP1|DRAP | PP9284|PRSS10 | |
| Cytomap | 21q22.2-q22.3 | 21q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | beta-secretase 256 kDa aspartic-like proteaseDown syndrome region aspartic proteaseSLCO3A1/BACE2 fusionaspartyl protease 1beta-site APP-cleaving enzyme 2beta-site amyloid beta A4 precursor protein-cleaving enzyme 2memapsin-1membrane-associated asp | transmembrane protease serine 2epitheliasinserine protease 10transmembrane protease, serine 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y5Z0 | O15393 | |
| Ensembl transtripts involved in fusion gene | ENST00000328735, ENST00000330333, ENST00000347667, ENST00000466122, | ENST00000332149, ENST00000398585, ENST00000458356, ENST00000497881, | |
| Fusion gene scores | * DoF score | 8 X 6 X 5=240 | 16 X 12 X 3=576 |
| # samples | 10 | 20 | |
| ** MAII score | log2(10/240*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(20/576*10)=-1.52606881166759 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BACE2 [Title/Abstract] AND TMPRSS2 [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 | BACE2 | GO:0006509 | membrane protein ectodomain proteolysis | 10591213 |
| Tgene | TMPRSS2 | GO:0006508 | proteolysis | 21068237|24227843 |
| Tgene | TMPRSS2 | GO:0046598 | positive regulation of viral entry into host cell | 21068237|24227843 |
| 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 | LD | PRAD | TCGA-KC-A4BV-01A | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| * 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-3CDS | ENST00000328735 | ENST00000332149 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| intron-3CDS | ENST00000328735 | ENST00000398585 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| intron-3CDS | ENST00000328735 | ENST00000458356 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| intron-intron | ENST00000328735 | ENST00000497881 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| Frame-shift | ENST00000330333 | ENST00000332149 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| Frame-shift | ENST00000330333 | ENST00000398585 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| Frame-shift | ENST00000330333 | ENST00000458356 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| 5CDS-intron | ENST00000330333 | ENST00000497881 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| Frame-shift | ENST00000347667 | ENST00000332149 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| Frame-shift | ENST00000347667 | ENST00000398585 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| Frame-shift | ENST00000347667 | ENST00000458356 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| 5CDS-intron | ENST00000347667 | ENST00000497881 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| 3UTR-3CDS | ENST00000466122 | ENST00000332149 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| 3UTR-3CDS | ENST00000466122 | ENST00000398585 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| 3UTR-3CDS | ENST00000466122 | ENST00000458356 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
| 3UTR-intron | ENST00000466122 | ENST00000497881 | BACE2 | chr21 | 42629253 | + | TMPRSS2 | chr21 | 42848547 | - |
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FusionProtFeatures for BACE2_TMPRSS2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BACE2 | TMPRSS2 |
| Responsible for the proteolytic processing of theamyloid precursor protein (APP). Cleaves APP, between residues 690and 691, leading to the generation and extracellular release ofbeta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. Ithas also been shown that it can cleave APP between residues 671and 672. {ECO:0000269|PubMed:10591213,ECO:0000269|PubMed:11083922, ECO:0000269|PubMed:11423558,ECO:0000269|PubMed:15857888, ECO:0000269|PubMed:16816112}. | Serine protease that proteolytically cleaves andactivates the viral spike glycoproteins which facilitate virus-cell membrane fusions; spike proteins are synthesized andmaintained in precursor intermediate folding states andproteolysis permits the refolding and energy release required tocreate stable virus-cell linkages and membrane coalescence.Facilitates human SARS coronavirus (SARS-CoV) infection via twoindependent mechanisms, proteolytic cleavage of ACE2, which mightpromote viral uptake, and cleavage of coronavirus spikeglycoprotein which activates the glycoprotein for cathepsin L-independent host cell entry. Proteolytically cleaves and activatesthe spike glycoproteins of human coronavirus 229E (HCoV-229E) andhuman coronavirus EMC (HCoV-EMC) and the fusion glycoproteins F0of Sendai virus (SeV), human metapneumovirus (HMPV), humanparainfluenza 1, 2, 3, 4a and 4b viruses (HPIV). Essential forspread and pathogenesis of influenza A virus (strains H1N1, H3N2and H7N9); involved in proteolytic cleavage and activation ofhemagglutinin (HA) protein which is essential for viralinfectivity. {ECO:0000269|PubMed:21068237,ECO:0000269|PubMed:21325420, ECO:0000269|PubMed:23536651,ECO:0000269|PubMed:23966399, ECO:0000269|PubMed:24027332,ECO:0000269|PubMed:24227843}. |
| 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 BACE2_TMPRSS2 |
| 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 BACE2_TMPRSS2 |
| 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 |
| BACE2 | GGA1, GGA2, ATP1B3, TMEM30A, HLA-E, MPPE1, ST8SIA4, CHST6, TCTN2, CD1E, CLEC2D, TMPRSS11B, IFNE, ARSG, CD97, TRIM25 | TMPRSS2 | CLK1 |
| - 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 BACE2_TMPRSS2 |
| 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 BACE2_TMPRSS2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | TMPRSS2 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
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