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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:MED1-TMPRSS9 (FusionGDB2 ID:HG5469TG360200)

Fusion Gene Summary for MED1-TMPRSS9

check button Fusion gene summary
Fusion gene informationFusion gene name: MED1-TMPRSS9
Fusion gene ID: hg5469tg360200
HgeneTgene
Gene symbol

MED1

TMPRSS9

Gene ID

5469

360200

Gene namemediator complex subunit 1transmembrane serine protease 9
SynonymsCRSP1|CRSP200|DRIP205|DRIP230|PBP|PPARBP|PPARGBP|RB18A|TRAP220|TRIP2-
Cytomap('MED1')('TMPRSS9')

17q12

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionmediator of RNA polymerase II transcription subunit 1ARC205PPAR-binding proteinPPARG binding proteinTR-interacting protein 2TRIP-2activator-recruited cofactor 205 kDa componentp53 regulatory protein RB18Aperoxisome proliferator-activated receptor-transmembrane protease serine 9polyserase-1polyserase-Ipolyserine protease 1transmembrane protease, serine 9
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000300651, ENST00000394287, 
Fusion gene scores* DoF score42 X 23 X 11=106264 X 5 X 3=60
# samples 414
** MAII scorelog2(41/10626*10)=-4.69583089796762
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/60*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MED1 [Title/Abstract] AND TMPRSS9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMED1(37607291)-TMPRSS9(2398793), # samples:3
Anticipated loss of major functional domain due to fusion event.MED1-TMPRSS9 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
MED1-TMPRSS9 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MED1-TMPRSS9 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneMED1

GO:0006356

regulation of transcription by RNA polymerase I

16314496

HgeneMED1

GO:0006367

transcription initiation from RNA polymerase II promoter

12218053

HgeneMED1

GO:0010628

positive regulation of gene expression

17827210

HgeneMED1

GO:0030518

intracellular steroid hormone receptor signaling pathway

11867769

HgeneMED1

GO:0045444

fat cell differentiation

12037571

HgeneMED1

GO:0045893

positive regulation of transcription, DNA-templated

10198638|16314496

HgeneMED1

GO:0045944

positive regulation of transcription by RNA polymerase II

9653119|12037571|17827210|19497978

HgeneMED1

GO:0070371

ERK1 and ERK2 cascade

18391015

HgeneMED1

GO:0071364

cellular response to epidermal growth factor stimulus

16314496

HgeneMED1

GO:0071383

cellular response to steroid hormone stimulus

18391015

HgeneMED1

GO:0097067

cellular response to thyroid hormone stimulus

18391015



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
ChimerDB4BRCATCGA-A2-A0EY-01AMED1chr17

37607291

-TMPRSS9chr19

2398793

+
ChimerDB4BRCATCGA-A2-A0EY-01AMED1chr17

37607291

-TMPRSS9chr19

2401973

+


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Fusion Gene ORF analysis for MED1-TMPRSS9

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
5CDS-3UTRENST00000300651ENST00000592650MED1chr17

37607291

-TMPRSS9chr19

2398793

+
5CDS-3UTRENST00000394287ENST00000592650MED1chr17

37607291

-TMPRSS9chr19

2398793

+
5CDS-intronENST00000300651ENST00000332578MED1chr17

37607291

-TMPRSS9chr19

2398793

+
5CDS-intronENST00000300651ENST00000592650MED1chr17

37607291

-TMPRSS9chr19

2401973

+
5CDS-intronENST00000394287ENST00000332578MED1chr17

37607291

-TMPRSS9chr19

2398793

+
5CDS-intronENST00000394287ENST00000592650MED1chr17

37607291

-TMPRSS9chr19

2401973

+
Frame-shiftENST00000300651ENST00000332578MED1chr17

37607291

-TMPRSS9chr19

2401973

+
Frame-shiftENST00000394287ENST00000332578MED1chr17

37607291

-TMPRSS9chr19

2401973

+

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 MED1-TMPRSS9


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)


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for MED1-TMPRSS9


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/:37607291/:2398793)
- 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
..
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: 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}.

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 MED1-TMPRSS9


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 MED1-TMPRSS9


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 MED1-TMPRSS9


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 MED1-TMPRSS9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMED1C0014175Endometriosis1CTD_human
HgeneMED1C0019193Hepatitis, Toxic1CTD_human
HgeneMED1C0269102Endometrioma1CTD_human
HgeneMED1C0860207Drug-Induced Liver Disease1CTD_human
HgeneMED1C1262760Hepatitis, Drug-Induced1CTD_human
HgeneMED1C2239176Liver carcinoma1CTD_human
HgeneMED1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneMED1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneMED1C4279912Chemically-Induced Liver Toxicity1CTD_human