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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:USP32-EXOSC5 (FusionGDB2 ID:96698)

Fusion Gene Summary for USP32-EXOSC5

check button Fusion gene summary
Fusion gene informationFusion gene name: USP32-EXOSC5
Fusion gene ID: 96698
HgeneTgene
Gene symbol

USP32

EXOSC5

Gene ID

84669

56915

Gene nameubiquitin specific peptidase 32exosome component 5
SynonymsNY-REN-60|USP10RRP41B|RRP46|Rrp46p|hRrp46p|p12B
Cytomap

17q23.1-q23.2

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionubiquitin carboxyl-terminal hydrolase 32deubiquitinating enzyme 32renal carcinoma antigen NY-REN-60ubiquitin specific protease 32ubiquitin thioesterase 32ubiquitin thiolesterase 32ubiquitin-specific-processing protease 32exosome complex component RRP46chronic myelogenous leukemia tumor antigen 28exosome complex exonuclease RRP46exosome component Rrp46ribosomal RNA-processing protein 46
Modification date2020031320200313
UniProtAcc.

Q9NQT4

Ensembl transtripts involved in fusion geneENST00000300896, ENST00000592339, 
ENST00000393003, ENST00000586881, 
ENST00000221233, ENST00000596905, 
Fusion gene scores* DoF score36 X 25 X 11=99003 X 3 X 3=27
# samples 423
** MAII scorelog2(42/9900*10)=-4.55896729218821
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: USP32 [Title/Abstract] AND EXOSC5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUSP32(58329742)-EXOSC5(41898885), # samples:1
Anticipated loss of major functional domain due to fusion event.USP32-EXOSC5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
USP32-EXOSC5 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
USP32-EXOSC5 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
USP32-EXOSC5 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor 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
TgeneEXOSC5

GO:0045006

DNA deamination

21255825


check buttonFusion gene breakpoints across USP32 (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 EXOSC5 (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
ChimerDB4KIRPTCGA-IA-A40Y-01AUSP32chr17

58329742

-EXOSC5chr19

41898885

-


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Fusion Gene ORF analysis for USP32-EXOSC5

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
Frame-shiftENST00000300896ENST00000221233USP32chr17

58329742

-EXOSC5chr19

41898885

-
5CDS-intronENST00000300896ENST00000596905USP32chr17

58329742

-EXOSC5chr19

41898885

-
In-frameENST00000592339ENST00000221233USP32chr17

58329742

-EXOSC5chr19

41898885

-
5CDS-intronENST00000592339ENST00000596905USP32chr17

58329742

-EXOSC5chr19

41898885

-
Frame-shiftENST00000393003ENST00000221233USP32chr17

58329742

-EXOSC5chr19

41898885

-
5CDS-intronENST00000393003ENST00000596905USP32chr17

58329742

-EXOSC5chr19

41898885

-
intron-3CDSENST00000586881ENST00000221233USP32chr17

58329742

-EXOSC5chr19

41898885

-
intron-intronENST00000586881ENST00000596905USP32chr17

58329742

-EXOSC5chr19

41898885

-

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)
ENST00000592339USP32chr1758329742-ENST00000221233EXOSC5chr1941898885-1035216230775181

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
ENST00000592339ENST00000221233USP32chr1758329742-EXOSC5chr1941898885-0.0881851540.9118148

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Fusion Genomic Features for USP32-EXOSC5


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 USP32-EXOSC5


check button Go to

FGviewer for the breakpoints of chr17:58329742-chr19:41898885

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.EXOSC5

Q9NQT4

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.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. {ECO:0000269|PubMed:11782436, ECO:0000269|PubMed:21255825}.

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
HgeneUSP32chr17:58329742chr19:41898885ENST00000300896-1134241_252378.66666666666671605.0Calcium binding1
HgeneUSP32chr17:58329742chr19:41898885ENST00000300896-1134277_288378.66666666666671605.0Calcium binding2
HgeneUSP32chr17:58329742chr19:41898885ENST00000300896-1134228_263378.66666666666671605.0DomainEF-hand 2
HgeneUSP32chr17:58329742chr19:41898885ENST00000300896-1134264_299378.66666666666671605.0DomainEF-hand 3
HgeneUSP32chr17:58329742chr19:41898885ENST00000300896-113491_126378.66666666666671605.0DomainEF-hand 1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneUSP32chr17:58329742chr19:41898885ENST00000300896-1134369_585378.66666666666671605.0DomainDUSP
HgeneUSP32chr17:58329742chr19:41898885ENST00000300896-1134734_1567378.66666666666671605.0DomainNote=USP


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Fusion Gene Sequence for USP32-EXOSC5


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.
>In-frame_ENST00000592339_ENST00000221233_TCGA-IA-A40Y-01A_USP32_chr17_58329742_-_EXOSC5_chr19_41898885_length(transcript)=1035nt_BP=216nt
GTTCCTTTCCTCACAGCAACAGATACCACACTACAGTGGGACAATTTAGACACTCCTGTTAACCTAACGTATGGGTCATCTTACTCTGGA
AGACTATCAGATCTGGAGTGTGAAAAATGTTCTTGCCAATGAGTTTTTGAACCTCCTTTTCCAGGTGTGTCACATAGTTCTGGGGTTAAG
ACCAGCTACTCCGGAAGAAGAAGGACAAATTATTAGGTGACACCTCTGTCCTGGCGGGTGTGTACGGGCCGGCCGAGGTGAAGGTCAGCA
AAGAGATTTTCAACAAGGCCACACTCGAAGTGATCCTGAGGCCGAAGATTGGGCTGCCTGGTGTTGCAGAGAAGAGCCGGGAGCGGCTGA
TCAGGAACACGTGCGAGGCGGTGGTGCTGGGCACGTTGCACCCCCGCACCTCCATCACCGTGGTGCTGCAGGTTGTCAGCGATGCCGGCT
CTCTCCTGGCCTGTTGTCTGAATGCCGCCTGCATGGCATTGGTGGATGCAGGTGTGCCCATGCGGGCTCTCTTCTGTGGGGTCGCCTGCG
CCCTGGACTCTGATGGGACCCTCGTGCTGGATCCTACATCCAAGCAAGAAAAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCG
TGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGCTCCAGCAGTGCCTGGCTGCGGCCCAGGCCGCTTCGC
AACACGTCTTCCGTTTCTACCGGGAATCGCTGCAGAGGCGTTACTCCAAGAGCTGAGGCAAGCTGGGGCAAGGGGCCGCTCCCATTGCCT
CCACCCACTCACCCCCTACAGCCTGAAGCAAACCAGCAGCCCAGCCTTGCCTCTCTGACCCATGGGCTCCTTGAGCCTGCAGCTCTGTAA
CCACAGGGCTCCTGTGGGGAGGCCTTGGCCTGTGACAGCCCCCAGGCCTGGGGGCACAGATCCCCCCAGCAAGGATAACATTCAAAGGAG

>In-frame_ENST00000592339_ENST00000221233_TCGA-IA-A40Y-01A_USP32_chr17_58329742_-_EXOSC5_chr19_41898885_length(amino acids)=181AA_start in transcript=230_stop in transcript=775
MAGVYGPAEVKVSKEIFNKATLEVILRPKIGLPGVAEKSRERLIRNTCEAVVLGTLHPRTSITVVLQVVSDAGSLLACCLNAACMALVDA
GVPMRALFCGVACALDSDGTLVLDPTSKQEKEARAVLTFALDSVERKLLMSSTKGLYSDTELQQCLAAAQAASQHVFRFYRESLQRRYSK

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Fusion Gene PPI Analysis for USP32-EXOSC5


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 USP32-EXOSC5


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 USP32-EXOSC5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUSP32C4721610Carcinoma, Ovarian Epithelial1CTD_human
TgeneEXOSC5C0024623Malignant neoplasm of stomach1CTD_human
TgeneEXOSC5C0038356Stomach Neoplasms1CTD_human
TgeneEXOSC5C0235874Disease Exacerbation1CTD_human
TgeneEXOSC5C1708349Hereditary Diffuse Gastric Cancer1CTD_human