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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:SMAD3-DIS3L (FusionGDB2 ID:83792)

Fusion Gene Summary for SMAD3-DIS3L

check button Fusion gene summary
Fusion gene informationFusion gene name: SMAD3-DIS3L
Fusion gene ID: 83792
HgeneTgene
Gene symbol

SMAD3

DIS3L

Gene ID

4088

115752

Gene nameSMAD family member 3DIS3 like exosome 3'-5' exoribonuclease
SynonymsHSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3DIS3L1
Cytomap

15q22.33

15q22.31

Type of geneprotein-codingprotein-coding
Descriptionmothers against decapentaplegic homolog 3MAD homolog 3MAD, mothers against decapentaplegic homolog 3SMA- and MAD-related protein 3SMAD, mothers against DPP homolog 3hMAD-3hSMAD3mad homolog JV15-2mad protein homologmad3mothers against DPP homologDIS3-like exonuclease 1DIS3 mitotic control homolog-like
Modification date2020032920200313
UniProtAcc.

Q8IYB7

Ensembl transtripts involved in fusion geneENST00000327367, ENST00000439724, 
ENST00000537194, ENST00000540846, 
ENST00000559092, 		ENST00000568874, 
ENST00000319194, ENST00000319212, 
ENST00000441424, 
Fusion gene scores* DoF score17 X 13 X 12=26521 X 3 X 1=3
# samples 302
** MAII scorelog2(30/2652*10)=-3.14404636961671
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/3*10)=2.73696559416621
Context

PubMed: SMAD3 [Title/Abstract] AND DIS3L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSMAD3(67358698)-DIS3L(66604062), # samples:3
Anticipated loss of major functional domain due to fusion event.SMAD3-DIS3L seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
SMAD3-DIS3L seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
SMAD3-DIS3L seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneSMAD3

GO:0000122

negative regulation of transcription by RNA polymerase II

8774881

HgeneSMAD3

GO:0006357

regulation of transcription by RNA polymerase II

21947082

HgeneSMAD3

GO:0007179

transforming growth factor beta receptor signaling pathway

9732876|18548003|21947082

HgeneSMAD3

GO:0007183

SMAD protein complex assembly

9111321|10823886

HgeneSMAD3

GO:0010628

positive regulation of gene expression

21307346

HgeneSMAD3

GO:0010718

positive regulation of epithelial to mesenchymal transition

21307346

HgeneSMAD3

GO:0030308

negative regulation of cell growth

8774881

HgeneSMAD3

GO:0045429

positive regulation of nitric oxide biosynthetic process

27038547

HgeneSMAD3

GO:0045599

negative regulation of fat cell differentiation

19816956

HgeneSMAD3

GO:0045893

positive regulation of transcription, DNA-templated

9111321|9311995|9732876

HgeneSMAD3

GO:0045944

positive regulation of transcription by RNA polymerase II

8774881|18832382

HgeneSMAD3

GO:0051481

negative regulation of cytosolic calcium ion concentration

27038547

HgeneSMAD3

GO:0071560

cellular response to transforming growth factor beta stimulus

12902338

HgeneSMAD3

GO:1901203

positive regulation of extracellular matrix assembly

21307346

TgeneDIS3L

GO:0016075

rRNA catabolic process

20531389


check buttonFusion gene breakpoints across SMAD3 (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 DIS3L (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
ChimerDB4BRCATCGA-A7-A26G-01ASMAD3chr15

67358698

-DIS3Lchr15

66604062

+
ChimerDB4BRCATCGA-A7-A26G-01ASMAD3chr15

67358698

+DIS3Lchr15

66604062

+
ChimerDB4BRCATCGA-A7-A26G-01ASMAD3chr15

67358698

+DIS3Lchr15

66606377

+
ChimerDB4BRCATCGA-A7-A26GSMAD3chr15

67358698

+DIS3Lchr15

66604061

+


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Fusion Gene ORF analysis for SMAD3-DIS3L

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
5CDS-intronENST00000327367ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
5CDS-intronENST00000327367ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
5CDS-intronENST00000327367ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
Frame-shiftENST00000327367ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
Frame-shiftENST00000327367ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
Frame-shiftENST00000327367ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
Frame-shiftENST00000327367ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
Frame-shiftENST00000327367ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
Frame-shiftENST00000327367ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
Frame-shiftENST00000327367ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
Frame-shiftENST00000327367ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
Frame-shiftENST00000327367ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-3CDSENST00000439724ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000439724ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-3CDSENST00000439724ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-3CDSENST00000439724ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000439724ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-3CDSENST00000439724ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-3CDSENST00000439724ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000439724ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-3CDSENST00000439724ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-3CDSENST00000537194ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000537194ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-3CDSENST00000537194ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-3CDSENST00000537194ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000537194ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-3CDSENST00000537194ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-3CDSENST00000537194ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000537194ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-3CDSENST00000537194ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-3CDSENST00000540846ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000540846ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-3CDSENST00000540846ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-3CDSENST00000540846ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000540846ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-3CDSENST00000540846ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-3CDSENST00000540846ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000540846ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-3CDSENST00000540846ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-3CDSENST00000559092ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000559092ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-3CDSENST00000559092ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-3CDSENST00000559092ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000559092ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-3CDSENST00000559092ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-3CDSENST00000559092ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000559092ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-3CDSENST00000559092ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-intronENST00000439724ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-intronENST00000439724ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-intronENST00000439724ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-intronENST00000537194ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-intronENST00000537194ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-intronENST00000537194ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-intronENST00000540846ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-intronENST00000540846ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-intronENST00000540846ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604061

+
intron-intronENST00000559092ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-intronENST00000559092ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66606377

+
intron-intronENST00000559092ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604061

+

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 SMAD3-DIS3L


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)
SMAD3chr1567358698+DIS3Lchr1566604061+2.29E-050.9999771
SMAD3chr1567358698+DIS3Lchr1566604061+2.29E-050.9999771
SMAD3chr1567358698+DIS3Lchr1566606376+2.22E-070.99999976
SMAD3chr1567358698+DIS3Lchr1566604061+2.29E-050.9999771
SMAD3chr1567358698+DIS3Lchr1566604061+2.29E-050.9999771
SMAD3chr1567358698+DIS3Lchr1566606376+2.22E-070.99999976

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.
genomic feature of top 1%

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Fusion Protein Features for SMAD3-DIS3L


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/:67358698/:66604062)
- 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

Q8IYB7

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: 3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mitosis, and negatively regulates cell proliferation. {ECO:0000255|HAMAP-Rule:MF_03045, ECO:0000269|PubMed:23756462, ECO:0000269|PubMed:24141620}.

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 SMAD3-DIS3L


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 SMAD3-DIS3L


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 SMAD3-DIS3L


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 SMAD3-DIS3L


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