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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:RPS27A-MTIF2 (FusionGDB2 ID:77737)

Fusion Gene Summary for RPS27A-MTIF2

check button Fusion gene summary
Fusion gene informationFusion gene name: RPS27A-MTIF2
Fusion gene ID: 77737
HgeneTgene
Gene symbol

RPS27A

MTIF2

Gene ID

6233

4528

Gene nameribosomal protein S27amitochondrial translational initiation factor 2
SynonymsCEP80|HEL112|S27A|UBA80|UBC|UBCEP1|UBCEP80-
Cytomap

2p16.1

2p16.1

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-40S ribosomal protein S27a40S ribosomal protein S27aepididymis luminal protein 112ubiquitin Cubiquitin and ribosomal protein S27aubiquitin carboxyl extension protein 80ubiquitin-CEP80translation initiation factor IF-2, mitochondrialIF-2mt
Modification date2020031320200313
UniProtAcc.

P46199

Ensembl transtripts involved in fusion geneENST00000272317, ENST00000404735, 
ENST00000402285, 
ENST00000263629, 
ENST00000394600, ENST00000403721, 
ENST00000446660, 
Fusion gene scores* DoF score8 X 13 X 6=6245 X 8 X 1=40
# samples 1613
** MAII scorelog2(16/624*10)=-1.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/40*10)=1.70043971814109
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RPS27A [Title/Abstract] AND MTIF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMTIF2(55462732)-RPS27A(55462730), # samples:4
RPS27A(55462743)-MTIF2(55462564), # samples:3
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

check buttonFusion gene breakpoints across RPS27A (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 MTIF2 (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
ChiTaRS5.0N/AAA658829RPS27Achr2

55462745

+MTIF2chr2

55462564

+
ChiTaRS5.0N/AAW023019RPS27Achr2

55462745

+MTIF2chr2

55462655

+
ChiTaRS5.0N/ABF244266RPS27Achr2

55462708

+MTIF2chr2

55462710

+
ChiTaRS5.0N/ABF246442RPS27Achr2

55462699

+MTIF2chr2

55462701

+
ChiTaRS5.0N/ABG033492RPS27Achr2

55462744

+MTIF2chr2

55462564

+
ChiTaRS5.0N/ABG575191RPS27Achr2

55462741

+MTIF2chr2

55462564

+
ChiTaRS5.0N/ABG575848RPS27Achr2

55462741

+MTIF2chr2

55462564

+
ChiTaRS5.0N/ACF122644RPS27Achr2

55462739

+MTIF2chr2

55462564

+
ChiTaRS5.0N/ACF123715RPS27Achr2

55462743

+MTIF2chr2

55462564

+
ChiTaRS5.0N/ACF124185RPS27Achr2

55462743

+MTIF2chr2

55462564

+
ChiTaRS5.0N/ACF124463RPS27Achr2

55462743

+MTIF2chr2

55462710

+
ChiTaRS5.0N/ACF124832RPS27Achr2

55462743

+MTIF2chr2

55462564

+


Top

Fusion Gene ORF analysis for RPS27A-MTIF2

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-intronENST00000272317ENST00000263629RPS27Achr2

55462745

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000263629RPS27Achr2

55462745

+MTIF2chr2

55462655

+
3UTR-intronENST00000272317ENST00000263629RPS27Achr2

55462744

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000263629RPS27Achr2

55462741

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000263629RPS27Achr2

55462739

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000263629RPS27Achr2

55462743

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000263629RPS27Achr2

55462743

+MTIF2chr2

55462710

+
3UTR-intronENST00000272317ENST00000394600RPS27Achr2

55462745

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000394600RPS27Achr2

55462745

+MTIF2chr2

55462655

+
3UTR-intronENST00000272317ENST00000394600RPS27Achr2

55462744

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000394600RPS27Achr2

55462741

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000394600RPS27Achr2

55462739

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000394600RPS27Achr2

55462743

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000394600RPS27Achr2

55462743

+MTIF2chr2

55462710

+
3UTR-intronENST00000272317ENST00000403721RPS27Achr2

55462745

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000403721RPS27Achr2

55462745

+MTIF2chr2

55462655

+
3UTR-intronENST00000272317ENST00000403721RPS27Achr2

55462744

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000403721RPS27Achr2

55462741

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000403721RPS27Achr2

55462739

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000403721RPS27Achr2

55462743

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000403721RPS27Achr2

55462743

+MTIF2chr2

55462710

+
3UTR-intronENST00000272317ENST00000446660RPS27Achr2

55462745

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000446660RPS27Achr2

55462745

+MTIF2chr2

55462655

+
3UTR-intronENST00000272317ENST00000446660RPS27Achr2

55462744

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000446660RPS27Achr2

55462741

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000446660RPS27Achr2

55462739

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000446660RPS27Achr2

55462743

+MTIF2chr2

55462564

+
3UTR-intronENST00000272317ENST00000446660RPS27Achr2

55462743

+MTIF2chr2

55462710

+
3UTR-intronENST00000404735ENST00000263629RPS27Achr2

55462745

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000263629RPS27Achr2

55462745

+MTIF2chr2

55462655

+
3UTR-intronENST00000404735ENST00000263629RPS27Achr2

55462744

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000263629RPS27Achr2

55462741

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000263629RPS27Achr2

55462739

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000263629RPS27Achr2

55462743

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000263629RPS27Achr2

55462743

+MTIF2chr2

55462710

+
3UTR-intronENST00000404735ENST00000394600RPS27Achr2

55462745

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000394600RPS27Achr2

55462745

+MTIF2chr2

55462655

+
3UTR-intronENST00000404735ENST00000394600RPS27Achr2

55462744

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000394600RPS27Achr2

55462741

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000394600RPS27Achr2

55462739

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000394600RPS27Achr2

55462743

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000394600RPS27Achr2

55462743

+MTIF2chr2

55462710

+
3UTR-intronENST00000404735ENST00000403721RPS27Achr2

55462745

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000403721RPS27Achr2

55462745

+MTIF2chr2

55462655

+
3UTR-intronENST00000404735ENST00000403721RPS27Achr2

55462744

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000403721RPS27Achr2

55462741

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000403721RPS27Achr2

55462739

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000403721RPS27Achr2

55462743

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000403721RPS27Achr2

55462743

+MTIF2chr2

55462710

+
3UTR-intronENST00000404735ENST00000446660RPS27Achr2

55462745

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000446660RPS27Achr2

55462745

+MTIF2chr2

55462655

+
3UTR-intronENST00000404735ENST00000446660RPS27Achr2

55462744

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000446660RPS27Achr2

55462741

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000446660RPS27Achr2

55462739

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000446660RPS27Achr2

55462743

+MTIF2chr2

55462564

+
3UTR-intronENST00000404735ENST00000446660RPS27Achr2

55462743

+MTIF2chr2

55462710

+
5CDS-intronENST00000272317ENST00000263629RPS27Achr2

55462708

+MTIF2chr2

55462710

+
5CDS-intronENST00000272317ENST00000263629RPS27Achr2

55462699

+MTIF2chr2

55462701

+
5CDS-intronENST00000272317ENST00000394600RPS27Achr2

55462708

+MTIF2chr2

55462710

+
5CDS-intronENST00000272317ENST00000394600RPS27Achr2

55462699

+MTIF2chr2

55462701

+
5CDS-intronENST00000272317ENST00000403721RPS27Achr2

55462708

+MTIF2chr2

55462710

+
5CDS-intronENST00000272317ENST00000403721RPS27Achr2

55462699

+MTIF2chr2

55462701

+
5CDS-intronENST00000272317ENST00000446660RPS27Achr2

55462708

+MTIF2chr2

55462710

+
5CDS-intronENST00000272317ENST00000446660RPS27Achr2

55462699

+MTIF2chr2

55462701

+
5CDS-intronENST00000402285ENST00000263629RPS27Achr2

55462708

+MTIF2chr2

55462710

+
5CDS-intronENST00000402285ENST00000263629RPS27Achr2

55462699

+MTIF2chr2

55462701

+
5CDS-intronENST00000402285ENST00000394600RPS27Achr2

55462708

+MTIF2chr2

55462710

+
5CDS-intronENST00000402285ENST00000394600RPS27Achr2

55462699

+MTIF2chr2

55462701

+
5CDS-intronENST00000402285ENST00000403721RPS27Achr2

55462708

+MTIF2chr2

55462710

+
5CDS-intronENST00000402285ENST00000403721RPS27Achr2

55462699

+MTIF2chr2

55462701

+
5CDS-intronENST00000402285ENST00000446660RPS27Achr2

55462708

+MTIF2chr2

55462710

+
5CDS-intronENST00000402285ENST00000446660RPS27Achr2

55462699

+MTIF2chr2

55462701

+
5CDS-intronENST00000404735ENST00000263629RPS27Achr2

55462708

+MTIF2chr2

55462710

+
5CDS-intronENST00000404735ENST00000263629RPS27Achr2

55462699

+MTIF2chr2

55462701

+
5CDS-intronENST00000404735ENST00000394600RPS27Achr2

55462708

+MTIF2chr2

55462710

+
5CDS-intronENST00000404735ENST00000394600RPS27Achr2

55462699

+MTIF2chr2

55462701

+
5CDS-intronENST00000404735ENST00000403721RPS27Achr2

55462708

+MTIF2chr2

55462710

+
5CDS-intronENST00000404735ENST00000403721RPS27Achr2

55462699

+MTIF2chr2

55462701

+
5CDS-intronENST00000404735ENST00000446660RPS27Achr2

55462708

+MTIF2chr2

55462710

+
5CDS-intronENST00000404735ENST00000446660RPS27Achr2

55462699

+MTIF2chr2

55462701

+
intron-intronENST00000402285ENST00000263629RPS27Achr2

55462745

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000263629RPS27Achr2

55462745

+MTIF2chr2

55462655

+
intron-intronENST00000402285ENST00000263629RPS27Achr2

55462744

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000263629RPS27Achr2

55462741

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000263629RPS27Achr2

55462739

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000263629RPS27Achr2

55462743

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000263629RPS27Achr2

55462743

+MTIF2chr2

55462710

+
intron-intronENST00000402285ENST00000394600RPS27Achr2

55462745

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000394600RPS27Achr2

55462745

+MTIF2chr2

55462655

+
intron-intronENST00000402285ENST00000394600RPS27Achr2

55462744

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000394600RPS27Achr2

55462741

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000394600RPS27Achr2

55462739

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000394600RPS27Achr2

55462743

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000394600RPS27Achr2

55462743

+MTIF2chr2

55462710

+
intron-intronENST00000402285ENST00000403721RPS27Achr2

55462745

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000403721RPS27Achr2

55462745

+MTIF2chr2

55462655

+
intron-intronENST00000402285ENST00000403721RPS27Achr2

55462744

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000403721RPS27Achr2

55462741

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000403721RPS27Achr2

55462739

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000403721RPS27Achr2

55462743

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000403721RPS27Achr2

55462743

+MTIF2chr2

55462710

+
intron-intronENST00000402285ENST00000446660RPS27Achr2

55462745

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000446660RPS27Achr2

55462745

+MTIF2chr2

55462655

+
intron-intronENST00000402285ENST00000446660RPS27Achr2

55462744

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000446660RPS27Achr2

55462741

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000446660RPS27Achr2

55462739

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000446660RPS27Achr2

55462743

+MTIF2chr2

55462564

+
intron-intronENST00000402285ENST00000446660RPS27Achr2

55462743

+MTIF2chr2

55462710

+

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

Top

Fusion Genomic Features for RPS27A-MTIF2


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. 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.

Top

Fusion Protein Features for RPS27A-MTIF2


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/:55462732/:55462730)
- 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
.MTIF2

P46199

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: One of the essential components for the initiation of protein synthesis. Protects formylmethionyl-tRNA from spontaneous hydrolysis and promotes its binding to the 30S ribosomal subunits. Also involved in the hydrolysis of GTP during the formation of the 70S ribosomal complex.

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 RPS27A-MTIF2


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.

Top

Fusion Gene PPI Analysis for RPS27A-MTIF2


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 RPS27A-MTIF2


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 RPS27A-MTIF2


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