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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3775

FusionGeneSummary for BACE2_TMPRSS2

check button Fusion gene summary
Fusion gene informationFusion gene name: BACE2_TMPRSS2
Fusion gene ID: 3775
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

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 date2018052320180523
UniProtAcc

Q9Y5Z0

O15393

Ensembl transtripts involved in fusion geneENST00000328735, ENST00000330333, 
ENST00000347667, ENST00000466122, 
ENST00000332149, ENST00000398585, 
ENST00000458356, ENST00000497881, 
Fusion gene scores* DoF score8 X 6 X 5=24016 X 12 X 3=576
# samples 1020
** MAII scorelog2(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)

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 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDPRADTCGA-KC-A4BV-01ABACE2chr21

42629253

+TMPRSS2chr21

42848547

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3CDSENST00000328735ENST00000332149BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
intron-3CDSENST00000328735ENST00000398585BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
intron-3CDSENST00000328735ENST00000458356BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
intron-intronENST00000328735ENST00000497881BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
Frame-shitENST00000330333ENST00000332149BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
Frame-shitENST00000330333ENST00000398585BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
Frame-shitENST00000330333ENST00000458356BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
5CDS-intronENST00000330333ENST00000497881BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
Frame-shitENST00000347667ENST00000332149BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
Frame-shitENST00000347667ENST00000398585BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
Frame-shitENST00000347667ENST00000458356BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
5CDS-intronENST00000347667ENST00000497881BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
3UTR-3CDSENST00000466122ENST00000332149BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
3UTR-3CDSENST00000466122ENST00000398585BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
3UTR-3CDSENST00000466122ENST00000458356BACE2chr21

42629253

+TMPRSS2chr21

42848547

-
3UTR-intronENST00000466122ENST00000497881BACE2chr21

42629253

+TMPRSS2chr21

42848547

-

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FusionProtFeatures for BACE2_TMPRSS2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BACE2

Q9Y5Z0

TMPRSS2

O15393

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}.

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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FusionGeneSequence for BACE2_TMPRSS2


check button 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


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
BACE2GGA1, GGA2, ATP1B3, TMEM30A, HLA-E, MPPE1, ST8SIA4, CHST6, TCTN2, CD1E, CLEC2D, TMPRSS11B, IFNE, ARSG, CD97, TRIM25TMPRSS2CLK1


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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RelatedDrugs for BACE2_TMPRSS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for BACE2_TMPRSS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTMPRSS2C0033578Prostatic Neoplasms2CTD_human