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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:BACE2-TMPRSS2 (FusionGDB2 ID:HG25825TG7113)

Fusion Gene Summary for BACE2-TMPRSS2

check button Fusion gene summary
Fusion gene informationFusion gene name: BACE2-TMPRSS2
Fusion gene ID: hg25825tg7113
HgeneTgene
Gene symbol

BACE2

TMPRSS2

Gene ID

25825

7113

Gene namebeta-secretase 2transmembrane serine protease 2
SynonymsAEPLC|ALP56|ASP1|ASP21|BAE2|CDA13|CEAP1|DRAPPP9284|PRSS10
Cytomap('BACE2')('TMPRSS2')

21q22.2-q22.3

21q22.3

Type of geneprotein-codingprotein-coding
Descriptionbeta-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 asptransmembrane protease serine 2epitheliasinserine protease 10transmembrane protease, serine 2
Modification date2020031320200313
UniProtAcc.

O15393

Ensembl transtripts involved in fusion geneENST00000466122, ENST00000330333, 
ENST00000347667, ENST00000328735, 
ENST00000328735, ENST00000330333, 
ENST00000347667, ENST00000466122, 
Fusion gene scores* DoF score13 X 5 X 10=65028 X 34 X 5=4760
# samples 1535
** MAII scorelog2(15/650*10)=-2.11547721741994
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(35/4760*10)=-3.76553474636298
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]

Most frequent breakpointBACE2(42629253)-TMPRSS2(42848547), # samples:2
Anticipated loss of major functional domain due to fusion event.BACE2-TMPRSS2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BACE2-TMPRSS2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
BACE2-TMPRSS2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneBACE2

GO:0006509

membrane protein ectodomain proteolysis

10591213

TgeneTMPRSS2

GO:0006508

proteolysis

21068237|24227843

TgeneTMPRSS2

GO:0046598

positive regulation of viral entry into host cell

21068237|24227843



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-KC-A4BV-01ABACE2chr21

42629253

+TMPRSS2chr21

42848547

-
ChimerDB4PRADTCGA-KC-A4BVBACE2chr21

42629253

+TMPRSS2chr21

42848547

-


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Fusion Gene ORF analysis for BACE2-TMPRSS2

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3CDSENST00000466122ENST00000332149BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
3UTR-3CDSENST00000466122ENST00000398585BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
3UTR-3CDSENST00000466122ENST00000458356BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
3UTR-intronENST00000466122ENST00000497881BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
5CDS-intronENST00000330333ENST00000497881BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
5CDS-intronENST00000347667ENST00000497881BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
Frame-shiftENST00000330333ENST00000332149BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
Frame-shiftENST00000330333ENST00000398585BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
Frame-shiftENST00000330333ENST00000458356BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
Frame-shiftENST00000347667ENST00000332149BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
Frame-shiftENST00000347667ENST00000398585BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
Frame-shiftENST00000347667ENST00000458356BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
intron-3CDSENST00000328735ENST00000332149BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
intron-3CDSENST00000328735ENST00000398585BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
intron-3CDSENST00000328735ENST00000458356BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
intron-intronENST00000328735ENST00000497881BACE2chr21

42629253

+TMPRSS2chr21

42848547

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for BACE2-TMPRSS2


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for BACE2-TMPRSS2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:42629253/:42848547)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.TMPRSS2

O15393

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: Plasma membrane-anchored serine protease that participates in proteolytic cascades of relevance for the normal physiologic function of the prostate (PubMed:25122198). Androgen-induced TMPRSS2 activates several substrates that include pro-hepatocyte growth factor/HGF, the protease activated receptor-2/F2RL1 or matriptase/ST14 leading to extracellular matrix disruption and metastasis of prostate cancer cells (PubMed:15537383, PubMed:26018085, PubMed:25122198). In addition, activates trigeminal neurons and contribute to both spontaneous pain and mechanical allodynia (By similarity). {ECO:0000250|UniProtKB:Q9JIQ8, ECO:0000269|PubMed:15537383, ECO:0000269|PubMed:25122198, ECO:0000269|PubMed:26018085}.; FUNCTION: (Microbial infection) Facilitates human coronaviruses SARS-CoV and SARS-CoV-2 infections via two independent mechanisms, proteolytic cleavage of ACE2 receptor which promotes viral uptake, and cleavage of coronavirus spike glycoproteins which activates the glycoprotein for host cell entry (PubMed:24227843, PubMed:32142651, PubMed:32404436, PubMed:34159616, PubMed:33051876). Upon SARS-CoV-2 infection, increases syncytia formation by accelerating the fusion process (PubMed:34159616, PubMed:33051876). Proteolytically cleaves and activates the spike glycoproteins of human coronavirus 229E (HCoV-229E) and human coronavirus EMC (HCoV-EMC) and the fusion glycoproteins F0 of Sendai virus (SeV), human metapneumovirus (HMPV), human parainfluenza 1, 2, 3, 4a and 4b viruses (HPIV). Essential for spread and pathogenesis of influenza A virus (strains H1N1, H3N2 and H7N9); involved in proteolytic cleavage and activation of hemagglutinin (HA) protein which is essential for viral infectivity. {ECO:0000269|PubMed:21068237, ECO:0000269|PubMed:21325420, ECO:0000269|PubMed:23536651, ECO:0000269|PubMed:23966399, ECO:0000269|PubMed:24027332, ECO:0000269|PubMed:24227843, ECO:0000269|PubMed:32142651, ECO:0000269|PubMed:32404436, ECO:0000269|PubMed:33051876, ECO:0000269|PubMed:34159616}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for BACE2-TMPRSS2


check button 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 BACE2-TMPRSS2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for BACE2-TMPRSS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for BACE2-TMPRSS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0033578Prostatic Neoplasms4CTD_human
TgeneC0376358Malignant neoplasm of prostate4CTD_human