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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:TMPRSS2-EML4 (FusionGDB2 ID:HG7113TG27436)

Fusion Gene Summary for TMPRSS2-EML4

check button Fusion gene summary
Fusion gene informationFusion gene name: TMPRSS2-EML4
Fusion gene ID: hg7113tg27436
HgeneTgene
Gene symbol

TMPRSS2

EML4

Gene ID

7113

27436

Gene nametransmembrane serine protease 2EMAP like 4
SynonymsPP9284|PRSS10C2orf2|ELP120|EMAP-4|EMAPL4|ROPP120
Cytomap('TMPRSS2')('EML4')

21q22.3

2p21

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protease serine 2epitheliasinserine protease 10transmembrane protease, serine 2echinoderm microtubule-associated protein-like 4echinoderm microtubule associated protein like 4restrictedly overexpressed proliferation-associated proteinropp 120
Modification date2020031320200313
UniProtAcc

O15393

Q9HC35

Ensembl transtripts involved in fusion geneENST00000332149, ENST00000398585, 
ENST00000458356, ENST00000497881, 
Fusion gene scores* DoF score40 X 73 X 10=292009 X 10 X 6=540
# samples 13010
** MAII scorelog2(130/29200*10)=-4.48938484073892
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/540*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMPRSS2 [Title/Abstract] AND EML4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTMPRSS2(42859167)-EML4(42558831), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneTMPRSS2

GO:0006508

proteolysis

21068237|24227843

HgeneTMPRSS2

GO:0046598

positive regulation of viral entry into host cell

21068237|24227843



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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-XK-AAIV-01ATMPRSS2chr21

42859167

-EML4chr2

42558831

+
ChimerDB4PRADTCGA-XK-AAIVTMPRSS2chr21

42859167

-EML4chr2

42558831

+


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Fusion Gene ORF analysis for TMPRSS2-EML4

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-3UTRENST00000332149ENST00000318522TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-3UTRENST00000398585ENST00000318522TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-3UTRENST00000458356ENST00000318522TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-3UTRENST00000497881ENST00000318522TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000332149ENST00000401738TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000332149ENST00000402711TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000332149ENST00000453191TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000332149ENST00000482660TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000398585ENST00000401738TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000398585ENST00000402711TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000398585ENST00000453191TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000398585ENST00000482660TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000458356ENST00000401738TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000458356ENST00000402711TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000458356ENST00000453191TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000458356ENST00000482660TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000497881ENST00000401738TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000497881ENST00000402711TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000497881ENST00000453191TMPRSS2chr21

42859167

-EML4chr2

42558831

+
intron-intronENST00000497881ENST00000482660TMPRSS2chr21

42859167

-EML4chr2

42558831

+

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 TMPRSS2-EML4


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 TMPRSS2-EML4


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/:42859167/:42558831)
- 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

EML4

Q9HC35

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}.FUNCTION: Essential for the formation and stability of microtubules (MTs) (PubMed:16890222, PubMed:31409757). Required for the organization of the mitotic spindle and for the proper attachment of kinetochores to MTs (PubMed:25789526). Promotes the recruitment of NUDC to the mitotic spindle for mitotic progression (PubMed:25789526). {ECO:0000269|PubMed:16890222, ECO:0000269|PubMed:25789526, ECO:0000269|PubMed:31409757}.

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 TMPRSS2-EML4


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 TMPRSS2-EML4


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 TMPRSS2-EML4


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 TMPRSS2-EML4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMPRSS2C0033578Prostatic Neoplasms4CTD_human
HgeneTMPRSS2C0376358Malignant neoplasm of prostate4CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma6CTD_human
TgeneC0027627Neoplasm Metastasis2CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)2CTD_human
TgeneC0006118Brain Neoplasms1CTD_human
TgeneC0153633Malignant neoplasm of brain1CTD_human
TgeneC0496899Benign neoplasm of brain, unspecified1CTD_human
TgeneC0750974Brain Tumor, Primary1CTD_human
TgeneC0750977Recurrent Brain Neoplasm1CTD_human
TgeneC0750979Primary malignant neoplasm of brain1CTD_human
TgeneC1527390Neoplasms, Intracranial1CTD_human