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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:EXOSC9-C1orf112 (FusionGDB2 ID:27995)

Fusion Gene Summary for EXOSC9-C1orf112

check button Fusion gene summary
Fusion gene informationFusion gene name: EXOSC9-C1orf112
Fusion gene ID: 27995
HgeneTgene
Gene symbol

EXOSC9

C1orf112

Gene ID

5393

55732

Gene nameexosome component 9chromosome 1 open reading frame 112
SynonymsPCH1D|PM/Scl-75|PMSCL1|RRP45|Rrp45p|p5|p6-
Cytomap

4q27

1q24.2

Type of geneprotein-codingprotein-coding
Descriptionexosome complex component RRP45P75 polymyositis-scleroderma overlap syndrome associated autoantigenPMSCL autoantigen, 75kDautoantigen PM/Scl 1exosome complex exonuclease RRP45polymyositis/scleroderma autoantigen 1, 75kDauncharacterized protein C1orf112
Modification date2020032020200313
UniProtAcc

Q06265

Q9NSG2

Ensembl transtripts involved in fusion geneENST00000509980, ENST00000243498, 
ENST00000379663, ENST00000512454, 
ENST00000286031, ENST00000359326, 
ENST00000413811, ENST00000456684, 
ENST00000498289, 
Fusion gene scores* DoF score3 X 3 X 2=185 X 6 X 2=60
# samples 36
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/60*10)=0
Context

PubMed: EXOSC9 [Title/Abstract] AND C1orf112 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEXOSC9(122728768)-C1orf112(169751697), # samples:1
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 EXOSC9 (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 C1orf112 (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/AAV711417EXOSC9chr4

122728768

+C1orf112chr1

169751697

+


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Fusion Gene ORF analysis for EXOSC9-C1orf112

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-intronENST00000509980ENST00000286031EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
3UTR-intronENST00000509980ENST00000359326EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
3UTR-intronENST00000509980ENST00000413811EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
3UTR-intronENST00000509980ENST00000456684EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
3UTR-intronENST00000509980ENST00000498289EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000243498ENST00000286031EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000243498ENST00000359326EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000243498ENST00000413811EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000243498ENST00000456684EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000243498ENST00000498289EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000379663ENST00000286031EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000379663ENST00000359326EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000379663ENST00000413811EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000379663ENST00000456684EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000379663ENST00000498289EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000512454ENST00000286031EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000512454ENST00000359326EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000512454ENST00000413811EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000512454ENST00000456684EXOSC9chr4

122728768

+C1orf112chr1

169751697

+
5CDS-intronENST00000512454ENST00000498289EXOSC9chr4

122728768

+C1orf112chr1

169751697

+

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 EXOSC9-C1orf112


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.

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Fusion Protein Features for EXOSC9-C1orf112


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/:122728768/:169751697)
- 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
EXOSC9

Q06265

C1orf112

Q9NSG2

FUNCTION: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC9 binds to ARE-containing RNAs. {ECO:0000269|PubMed:11782436, ECO:0000269|PubMed:16455498, ECO:0000269|PubMed:16912217, ECO:0000269|PubMed:17545563}.

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 EXOSC9-C1orf112


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 EXOSC9-C1orf112


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 EXOSC9-C1orf112


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 EXOSC9-C1orf112


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