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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:MTIF2-RPS27A (FusionGDB2 ID:HG4528TG6233)

Fusion Gene Summary for MTIF2-RPS27A

check button Fusion gene summary
Fusion gene informationFusion gene name: MTIF2-RPS27A
Fusion gene ID: hg4528tg6233
HgeneTgene
Gene symbol

MTIF2

RPS27A

Gene ID

4528

6233

Gene namemitochondrial translational initiation factor 2ribosomal protein S27a
Synonyms-CEP80|HEL112|S27A|UBA80|UBC|UBCEP1|UBCEP80
Cytomap('MTIF2')('RPS27A')

2p16.1

2p16.1

Type of geneprotein-codingprotein-coding
Descriptiontranslation initiation factor IF-2, mitochondrialIF-2mtubiquitin-40S ribosomal protein S27a40S ribosomal protein S27aepididymis luminal protein 112ubiquitin Cubiquitin and ribosomal protein S27aubiquitin carboxyl extension protein 80ubiquitin-CEP80
Modification date2020031320200313
UniProtAcc

P46199

.
Ensembl transtripts involved in fusion geneENST00000263629, ENST00000394600, 
ENST00000403721, ENST00000446660, 
ENST00000263629, ENST00000394600, 
ENST00000403721, ENST00000446660, 
Fusion gene scores* DoF score6 X 8 X 4=19212 X 13 X 6=936
# samples 1117
** MAII scorelog2(11/192*10)=-0.803602787196497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/936*10)=-2.4609737834457
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointMTIF2(55462732)-RPS27A(55462730), # samples:4
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 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
ChimerDB4LUSCTCGA-22-5492MTIF2chr2

55463769

-RPS27Achr2

55460499

+
ChiTaRS5.0N/AAA492364MTIF2chr2

55462564

-RPS27Achr2

55462743

-
ChiTaRS5.0N/AAA528259MTIF2chr2

55462564

-RPS27Achr2

55462741

-
ChiTaRS5.0N/AAA603905MTIF2chr2

55462564

-RPS27Achr2

55462743

-
ChiTaRS5.0N/AAA714961MTIF2chr2

55462593

-RPS27Achr2

55462749

-
ChiTaRS5.0N/ABG059465MTIF2chr2

55462564

-RPS27Achr2

55462745

-
ChiTaRS5.0N/AEC442375MTIF2chr2

55462732

-RPS27Achr2

55462730

-
ChiTaRS5.0N/AEC515735MTIF2chr2

55462732

-RPS27Achr2

55462730

-
ChiTaRS5.0N/AEC517137MTIF2chr2

55462732

-RPS27Achr2

55462730

-
ChiTaRS5.0N/AEC582730MTIF2chr2

55462732

-RPS27Achr2

55462730

-


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Fusion Gene ORF analysis for MTIF2-RPS27A

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-3CDSENST00000263629ENST00000272317MTIF2chr2

55463769

-RPS27Achr2

55460499

+
intron-3CDSENST00000263629ENST00000402285MTIF2chr2

55463769

-RPS27Achr2

55460499

+
intron-3CDSENST00000263629ENST00000404735MTIF2chr2

55463769

-RPS27Achr2

55460499

+
intron-3CDSENST00000394600ENST00000272317MTIF2chr2

55463769

-RPS27Achr2

55460499

+
intron-3CDSENST00000394600ENST00000402285MTIF2chr2

55463769

-RPS27Achr2

55460499

+
intron-3CDSENST00000394600ENST00000404735MTIF2chr2

55463769

-RPS27Achr2

55460499

+
intron-3CDSENST00000403721ENST00000272317MTIF2chr2

55463769

-RPS27Achr2

55460499

+
intron-3CDSENST00000403721ENST00000402285MTIF2chr2

55463769

-RPS27Achr2

55460499

+
intron-3CDSENST00000403721ENST00000404735MTIF2chr2

55463769

-RPS27Achr2

55460499

+
intron-3CDSENST00000446660ENST00000272317MTIF2chr2

55463769

-RPS27Achr2

55460499

+
intron-3CDSENST00000446660ENST00000402285MTIF2chr2

55463769

-RPS27Achr2

55460499

+
intron-3CDSENST00000446660ENST00000404735MTIF2chr2

55463769

-RPS27Achr2

55460499

+
intron-3UTRENST00000263629ENST00000272317MTIF2chr2

55462564

-RPS27Achr2

55462743

-
intron-3UTRENST00000263629ENST00000272317MTIF2chr2

55462564

-RPS27Achr2

55462741

-
intron-3UTRENST00000263629ENST00000272317MTIF2chr2

55462593

-RPS27Achr2

55462749

-
intron-3UTRENST00000263629ENST00000272317MTIF2chr2

55462564

-RPS27Achr2

55462745

-
intron-3UTRENST00000263629ENST00000272317MTIF2chr2

55462732

-RPS27Achr2

55462730

-
intron-3UTRENST00000263629ENST00000404735MTIF2chr2

55462564

-RPS27Achr2

55462743

-
intron-3UTRENST00000263629ENST00000404735MTIF2chr2

55462564

-RPS27Achr2

55462741

-
intron-3UTRENST00000263629ENST00000404735MTIF2chr2

55462593

-RPS27Achr2

55462749

-
intron-3UTRENST00000263629ENST00000404735MTIF2chr2

55462564

-RPS27Achr2

55462745

-
intron-3UTRENST00000263629ENST00000404735MTIF2chr2

55462732

-RPS27Achr2

55462730

-
intron-3UTRENST00000394600ENST00000272317MTIF2chr2

55462564

-RPS27Achr2

55462743

-
intron-3UTRENST00000394600ENST00000272317MTIF2chr2

55462564

-RPS27Achr2

55462741

-
intron-3UTRENST00000394600ENST00000272317MTIF2chr2

55462593

-RPS27Achr2

55462749

-
intron-3UTRENST00000394600ENST00000272317MTIF2chr2

55462564

-RPS27Achr2

55462745

-
intron-3UTRENST00000394600ENST00000272317MTIF2chr2

55462732

-RPS27Achr2

55462730

-
intron-3UTRENST00000394600ENST00000404735MTIF2chr2

55462564

-RPS27Achr2

55462743

-
intron-3UTRENST00000394600ENST00000404735MTIF2chr2

55462564

-RPS27Achr2

55462741

-
intron-3UTRENST00000394600ENST00000404735MTIF2chr2

55462593

-RPS27Achr2

55462749

-
intron-3UTRENST00000394600ENST00000404735MTIF2chr2

55462564

-RPS27Achr2

55462745

-
intron-3UTRENST00000394600ENST00000404735MTIF2chr2

55462732

-RPS27Achr2

55462730

-
intron-3UTRENST00000403721ENST00000272317MTIF2chr2

55462564

-RPS27Achr2

55462743

-
intron-3UTRENST00000403721ENST00000272317MTIF2chr2

55462564

-RPS27Achr2

55462741

-
intron-3UTRENST00000403721ENST00000272317MTIF2chr2

55462593

-RPS27Achr2

55462749

-
intron-3UTRENST00000403721ENST00000272317MTIF2chr2

55462564

-RPS27Achr2

55462745

-
intron-3UTRENST00000403721ENST00000272317MTIF2chr2

55462732

-RPS27Achr2

55462730

-
intron-3UTRENST00000403721ENST00000404735MTIF2chr2

55462564

-RPS27Achr2

55462743

-
intron-3UTRENST00000403721ENST00000404735MTIF2chr2

55462564

-RPS27Achr2

55462741

-
intron-3UTRENST00000403721ENST00000404735MTIF2chr2

55462593

-RPS27Achr2

55462749

-
intron-3UTRENST00000403721ENST00000404735MTIF2chr2

55462564

-RPS27Achr2

55462745

-
intron-3UTRENST00000403721ENST00000404735MTIF2chr2

55462732

-RPS27Achr2

55462730

-
intron-3UTRENST00000446660ENST00000272317MTIF2chr2

55462564

-RPS27Achr2

55462743

-
intron-3UTRENST00000446660ENST00000272317MTIF2chr2

55462564

-RPS27Achr2

55462741

-
intron-3UTRENST00000446660ENST00000272317MTIF2chr2

55462593

-RPS27Achr2

55462749

-
intron-3UTRENST00000446660ENST00000272317MTIF2chr2

55462564

-RPS27Achr2

55462745

-
intron-3UTRENST00000446660ENST00000272317MTIF2chr2

55462732

-RPS27Achr2

55462730

-
intron-3UTRENST00000446660ENST00000404735MTIF2chr2

55462564

-RPS27Achr2

55462743

-
intron-3UTRENST00000446660ENST00000404735MTIF2chr2

55462564

-RPS27Achr2

55462741

-
intron-3UTRENST00000446660ENST00000404735MTIF2chr2

55462593

-RPS27Achr2

55462749

-
intron-3UTRENST00000446660ENST00000404735MTIF2chr2

55462564

-RPS27Achr2

55462745

-
intron-3UTRENST00000446660ENST00000404735MTIF2chr2

55462732

-RPS27Achr2

55462730

-
intron-intronENST00000263629ENST00000402285MTIF2chr2

55462564

-RPS27Achr2

55462743

-
intron-intronENST00000263629ENST00000402285MTIF2chr2

55462564

-RPS27Achr2

55462741

-
intron-intronENST00000263629ENST00000402285MTIF2chr2

55462593

-RPS27Achr2

55462749

-
intron-intronENST00000263629ENST00000402285MTIF2chr2

55462564

-RPS27Achr2

55462745

-
intron-intronENST00000263629ENST00000402285MTIF2chr2

55462732

-RPS27Achr2

55462730

-
intron-intronENST00000394600ENST00000402285MTIF2chr2

55462564

-RPS27Achr2

55462743

-
intron-intronENST00000394600ENST00000402285MTIF2chr2

55462564

-RPS27Achr2

55462741

-
intron-intronENST00000394600ENST00000402285MTIF2chr2

55462593

-RPS27Achr2

55462749

-
intron-intronENST00000394600ENST00000402285MTIF2chr2

55462564

-RPS27Achr2

55462745

-
intron-intronENST00000394600ENST00000402285MTIF2chr2

55462732

-RPS27Achr2

55462730

-
intron-intronENST00000403721ENST00000402285MTIF2chr2

55462564

-RPS27Achr2

55462743

-
intron-intronENST00000403721ENST00000402285MTIF2chr2

55462564

-RPS27Achr2

55462741

-
intron-intronENST00000403721ENST00000402285MTIF2chr2

55462593

-RPS27Achr2

55462749

-
intron-intronENST00000403721ENST00000402285MTIF2chr2

55462564

-RPS27Achr2

55462745

-
intron-intronENST00000403721ENST00000402285MTIF2chr2

55462732

-RPS27Achr2

55462730

-
intron-intronENST00000446660ENST00000402285MTIF2chr2

55462564

-RPS27Achr2

55462743

-
intron-intronENST00000446660ENST00000402285MTIF2chr2

55462564

-RPS27Achr2

55462741

-
intron-intronENST00000446660ENST00000402285MTIF2chr2

55462593

-RPS27Achr2

55462749

-
intron-intronENST00000446660ENST00000402285MTIF2chr2

55462564

-RPS27Achr2

55462745

-
intron-intronENST00000446660ENST00000402285MTIF2chr2

55462732

-RPS27Achr2

55462730

-

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 MTIF2-RPS27A


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 MTIF2-RPS27A


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: 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.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 MTIF2-RPS27A


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 MTIF2-RPS27A


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 MTIF2-RPS27A


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 MTIF2-RPS27A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1260899Anemia, Diamond-Blackfan1GENOMICS_ENGLAND