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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:CYTH1-MRC2 (FusionGDB2 ID:21143)

Fusion Gene Summary for CYTH1-MRC2

check button Fusion gene summary
Fusion gene informationFusion gene name: CYTH1-MRC2
Fusion gene ID: 21143
HgeneTgene
Gene symbol

CYTH1

MRC2

Gene ID

9267

9902

Gene namecytohesin 1mannose receptor C type 2
SynonymsB2-1|CYTOHESIN-1|D17S811E|PSCD1|SEC7CD280|CLEC13E|ENDO180|UPARAP
Cytomap

17q25.3

17q23.2

Type of geneprotein-codingprotein-coding
Descriptioncytohesin-1PH, SEC7 and coiled-coil domain-containing protein 1SEC7 homolog B2-1cytoadhesin 1homolog of secretory protein SEC7pleckstrin homology, Sec7 and coiled-coil domains 1C-type mannose receptor 2C-type lectin domain family 13 member EUPAR-associated proteinendocytic receptor (macrophage mannose receptor family)endocytic receptor 180macrophage mannose receptor 2urokinase-type plasminogen activator receptor-associated
Modification date2020031320200313
UniProtAcc

Q15438

Q9UBG0

Ensembl transtripts involved in fusion geneENST00000361101, ENST00000446868, 
ENST00000589296, ENST00000591455, 
ENST00000585509, ENST00000586175, 
ENST00000589297, 
ENST00000446119, 
ENST00000580916, ENST00000303375, 
Fusion gene scores* DoF score18 X 13 X 7=16385 X 4 X 4=80
# samples 196
** MAII scorelog2(19/1638*10)=-3.10786403331006
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CYTH1 [Title/Abstract] AND MRC2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCYTH1(76732774)-MRC2(60741909), # samples:2
Anticipated loss of major functional domain due to fusion event.CYTH1-MRC2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CYTH1-MRC2 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
HgeneCYTH1

GO:0030155

regulation of cell adhesion

12606567

TgeneMRC2

GO:0030574

collagen catabolic process

12972549


check buttonFusion gene breakpoints across CYTH1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across MRC2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4BRCATCGA-D8-A27N-01ACYTH1chr17

76732774

-MRC2chr17

60741909

+
ChimerDB4BRCATCGA-D8-A27N-01ACYTH1chr17

76778284

-MRC2chr17

60741909

+


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Fusion Gene ORF analysis for CYTH1-MRC2

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-intronENST00000361101ENST00000446119CYTH1chr17

76778284

-MRC2chr17

60741909

+
5CDS-intronENST00000361101ENST00000580916CYTH1chr17

76778284

-MRC2chr17

60741909

+
5CDS-intronENST00000446868ENST00000446119CYTH1chr17

76778284

-MRC2chr17

60741909

+
5CDS-intronENST00000446868ENST00000580916CYTH1chr17

76778284

-MRC2chr17

60741909

+
5CDS-intronENST00000589296ENST00000446119CYTH1chr17

76778284

-MRC2chr17

60741909

+
5CDS-intronENST00000589296ENST00000580916CYTH1chr17

76778284

-MRC2chr17

60741909

+
5CDS-intronENST00000591455ENST00000446119CYTH1chr17

76778284

-MRC2chr17

60741909

+
5CDS-intronENST00000591455ENST00000580916CYTH1chr17

76778284

-MRC2chr17

60741909

+
Frame-shiftENST00000361101ENST00000303375CYTH1chr17

76778284

-MRC2chr17

60741909

+
Frame-shiftENST00000446868ENST00000303375CYTH1chr17

76778284

-MRC2chr17

60741909

+
Frame-shiftENST00000589296ENST00000303375CYTH1chr17

76778284

-MRC2chr17

60741909

+
Frame-shiftENST00000591455ENST00000303375CYTH1chr17

76778284

-MRC2chr17

60741909

+
intron-3CDSENST00000361101ENST00000303375CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-3CDSENST00000446868ENST00000303375CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-3CDSENST00000585509ENST00000303375CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-3CDSENST00000585509ENST00000303375CYTH1chr17

76778284

-MRC2chr17

60741909

+
intron-3CDSENST00000586175ENST00000303375CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-3CDSENST00000586175ENST00000303375CYTH1chr17

76778284

-MRC2chr17

60741909

+
intron-3CDSENST00000589296ENST00000303375CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-3CDSENST00000589297ENST00000303375CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-3CDSENST00000589297ENST00000303375CYTH1chr17

76778284

-MRC2chr17

60741909

+
intron-3CDSENST00000591455ENST00000303375CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000361101ENST00000446119CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000361101ENST00000580916CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000446868ENST00000446119CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000446868ENST00000580916CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000585509ENST00000446119CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000585509ENST00000446119CYTH1chr17

76778284

-MRC2chr17

60741909

+
intron-intronENST00000585509ENST00000580916CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000585509ENST00000580916CYTH1chr17

76778284

-MRC2chr17

60741909

+
intron-intronENST00000586175ENST00000446119CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000586175ENST00000446119CYTH1chr17

76778284

-MRC2chr17

60741909

+
intron-intronENST00000586175ENST00000580916CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000586175ENST00000580916CYTH1chr17

76778284

-MRC2chr17

60741909

+
intron-intronENST00000589296ENST00000446119CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000589296ENST00000580916CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000589297ENST00000446119CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000589297ENST00000446119CYTH1chr17

76778284

-MRC2chr17

60741909

+
intron-intronENST00000589297ENST00000580916CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000589297ENST00000580916CYTH1chr17

76778284

-MRC2chr17

60741909

+
intron-intronENST00000591455ENST00000446119CYTH1chr17

76732774

-MRC2chr17

60741909

+
intron-intronENST00000591455ENST00000580916CYTH1chr17

76732774

-MRC2chr17

60741909

+

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 CYTH1-MRC2


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)
CYTH1chr1776778283-MRC2chr1760741908+1.94E-101
CYTH1chr1776778283-MRC2chr1760741908+1.94E-101

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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 CYTH1-MRC2


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/:76732774/:60741909)
- 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
CYTH1

Q15438

MRC2

Q9UBG0

FUNCTION: Promotes guanine-nucleotide exchange on ARF1, ARF5 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. Plays an important role in membrane trafficking, during junctional remodeling and epithelial polarization, through regulation of ARF6 activity. {ECO:0000250|UniProtKB:Q9QX11, ECO:0000269|PubMed:10652308, ECO:0000269|PubMed:29420262, ECO:0000269|PubMed:9653114}.FUNCTION: May play a role as endocytotic lectin receptor displaying calcium-dependent lectin activity. Internalizes glycosylated ligands from the extracellular space for release in an endosomal compartment via clathrin-mediated endocytosis. May be involved in plasminogen activation system controlling the extracellular level of PLAUR/PLAU, and thus may regulate protease activity at the cell surface. May contribute to cellular uptake, remodeling and degradation of extracellular collagen matrices. May play a role during cancer progression as well as in other chronic tissue destructive diseases acting on collagen turnover. May participate in remodeling of extracellular matrix cooperating with the matrix metalloproteinases (MMPs). {ECO:0000269|PubMed:10683150, ECO:0000269|PubMed:12972549}.

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 CYTH1-MRC2


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 CYTH1-MRC2


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 CYTH1-MRC2


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 CYTH1-MRC2


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