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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:DIS3L-PIAS1 (FusionGDB2 ID:HG115752TG8554)

Fusion Gene Summary for DIS3L-PIAS1

check button Fusion gene summary
Fusion gene informationFusion gene name: DIS3L-PIAS1
Fusion gene ID: hg115752tg8554
HgeneTgene
Gene symbol

DIS3L

PIAS1

Gene ID

115752

8554

Gene nameDIS3 like exosome 3'-5' exoribonucleaseprotein inhibitor of activated STAT 1
SynonymsDIS3L1DDXBP1|GBP|GU/RH-II|ZMIZ3
Cytomap('DIS3L')('PIAS1')

15q22.31

15q23

Type of geneprotein-codingprotein-coding
DescriptionDIS3-like exonuclease 1DIS3 mitotic control homolog-likeE3 SUMO-protein ligase PIAS1AR interacting proteinDEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1DEAD/H box-binding protein 1E3 SUMO-protein transferase PIAS1RNA helicase II-binding proteingu-binding proteinprotein inhibitor of activated STAT pr
Modification date2020031320200313
UniProtAcc

Q8TF46

.
Ensembl transtripts involved in fusion geneENST00000441424, ENST00000319194, 
ENST00000319212, ENST00000568874, 
Fusion gene scores* DoF score6 X 6 X 4=14412 X 13 X 7=1092
# samples 715
** MAII scorelog2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/1092*10)=-2.86393845042397
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DIS3L [Title/Abstract] AND PIAS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIS3L(66587479)-PIAS1(68378644), # samples:1
DIS3L(66615176)-PIAS1(68480367), # samples:1
Anticipated loss of major functional domain due to fusion event.DIS3L-PIAS1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DIS3L-PIAS1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneDIS3L

GO:0016075

rRNA catabolic process

20531389

TgenePIAS1

GO:0016925

protein sumoylation

18579533

TgenePIAS1

GO:0033235

positive regulation of protein sumoylation

17696781|21965678



check button Fusion gene information
* 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
ChimerDB4STADTCGA-B7-5816-01ADIS3Lchr15

66587479

+PIAS1chr15

68378644

+
ChimerDB4STADTCGA-BR-A4J9-01ADIS3Lchr15

66615176

+PIAS1chr15

68480367

+


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Fusion Gene ORF analysis for DIS3L-PIAS1

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-3UTRENST00000441424ENST00000249636DIS3Lchr15

66615176

+PIAS1chr15

68480367

+
3UTR-3UTRENST00000441424ENST00000545237DIS3Lchr15

66615176

+PIAS1chr15

68480367

+
3UTR-intronENST00000441424ENST00000567417DIS3Lchr15

66615176

+PIAS1chr15

68480367

+
5CDS-3UTRENST00000319194ENST00000249636DIS3Lchr15

66615176

+PIAS1chr15

68480367

+
5CDS-3UTRENST00000319194ENST00000545237DIS3Lchr15

66615176

+PIAS1chr15

68480367

+
5CDS-3UTRENST00000319212ENST00000249636DIS3Lchr15

66615176

+PIAS1chr15

68480367

+
5CDS-3UTRENST00000319212ENST00000545237DIS3Lchr15

66615176

+PIAS1chr15

68480367

+
5CDS-intronENST00000319194ENST00000567417DIS3Lchr15

66587479

+PIAS1chr15

68378644

+
5CDS-intronENST00000319194ENST00000567417DIS3Lchr15

66615176

+PIAS1chr15

68480367

+
5CDS-intronENST00000319212ENST00000567417DIS3Lchr15

66587479

+PIAS1chr15

68378644

+
5CDS-intronENST00000319212ENST00000567417DIS3Lchr15

66615176

+PIAS1chr15

68480367

+
5UTR-3CDSENST00000441424ENST00000249636DIS3Lchr15

66587479

+PIAS1chr15

68378644

+
5UTR-3CDSENST00000441424ENST00000545237DIS3Lchr15

66587479

+PIAS1chr15

68378644

+
5UTR-intronENST00000441424ENST00000567417DIS3Lchr15

66587479

+PIAS1chr15

68378644

+
Frame-shiftENST00000319194ENST00000249636DIS3Lchr15

66587479

+PIAS1chr15

68378644

+
Frame-shiftENST00000319194ENST00000545237DIS3Lchr15

66587479

+PIAS1chr15

68378644

+
Frame-shiftENST00000319212ENST00000249636DIS3Lchr15

66587479

+PIAS1chr15

68378644

+
Frame-shiftENST00000319212ENST00000545237DIS3Lchr15

66587479

+PIAS1chr15

68378644

+
intron-3CDSENST00000568874ENST00000249636DIS3Lchr15

66587479

+PIAS1chr15

68378644

+
intron-3CDSENST00000568874ENST00000545237DIS3Lchr15

66587479

+PIAS1chr15

68378644

+
intron-3UTRENST00000568874ENST00000249636DIS3Lchr15

66615176

+PIAS1chr15

68480367

+
intron-3UTRENST00000568874ENST00000545237DIS3Lchr15

66615176

+PIAS1chr15

68480367

+
intron-intronENST00000568874ENST00000567417DIS3Lchr15

66587479

+PIAS1chr15

68378644

+
intron-intronENST00000568874ENST00000567417DIS3Lchr15

66615176

+PIAS1chr15

68480367

+

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 DIS3L-PIAS1


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)
DIS3Lchr1566587479+PIAS1chr1568378643+0.0012809630.9987191
DIS3Lchr1566587479+PIAS1chr1568378643+0.0012809630.9987191


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 DIS3L-PIAS1


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/:66587479/:68378644)
- 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
DIS3L

Q8TF46

.
FUNCTION: Putative cytoplasm-specific 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 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. {ECO:0000269|PubMed:20531386, ECO:0000269|PubMed:20531389}.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 DIS3L-PIAS1


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 DIS3L-PIAS1


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 DIS3L-PIAS1


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 DIS3L-PIAS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0037274Dermatologic disorders1CTD_human
TgeneC0274861Arsenic Poisoning, Inorganic1CTD_human
TgeneC0274862Nervous System, Organic Arsenic Poisoning1CTD_human
TgeneC0311375Arsenic Poisoning1CTD_human
TgeneC0751851Arsenic Encephalopathy1CTD_human
TgeneC0751852Arsenic Induced Polyneuropathy1CTD_human