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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:SWI5-DNM1 (FusionGDB2 ID:88317)

Fusion Gene Summary for SWI5-DNM1

check button Fusion gene summary
Fusion gene informationFusion gene name: SWI5-DNM1
Fusion gene ID: 88317
HgeneTgene
Gene symbol

SWI5

DNM1

Gene ID

375757

1759

Gene nameSWI5 homologous recombination repair proteindynamin 1
SynonymsC9orf119|SAE3DNM|EIEE31
Cytomap

9q34.11

9q34.11

Type of geneprotein-codingprotein-coding
DescriptionDNA repair protein SWI5 homologHBV DNAPTP1-transactivated protein ASWI5 recombination repair homologprotein SAE3 homologdynamin-1
Modification date2020032920200327
UniProtAcc.

O00429

Ensembl transtripts involved in fusion geneENST00000320188, ENST00000418976, 
ENST00000419867, ENST00000495313, 
ENST00000608796, 		ENST00000493925, 
ENST00000341179, ENST00000372923, 
ENST00000393594, ENST00000475805, 
ENST00000486160, 
Fusion gene scores* DoF score3 X 1 X 2=64 X 5 X 4=80
# samples 45
** MAII scorelog2(4/6*10)=2.73696559416621log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SWI5 [Title/Abstract] AND DNM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSWI5(131048312)-DNM1(130980510), # samples:2
Anticipated loss of major functional domain due to fusion event.SWI5-DNM1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SWI5-DNM1 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
HgeneSWI5

GO:0071479

cellular response to ionizing radiation

23754376


check buttonFusion gene breakpoints across SWI5 (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 DNM1 (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
ChimerDB4OVTCGA-29-1694-01ASWI5chr9

131048312

+DNM1chr9

130980510

+


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Fusion Gene ORF analysis for SWI5-DNM1

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-intronENST00000320188ENST00000493925SWI5chr9

131048312

+DNM1chr9

130980510

+
5CDS-intronENST00000418976ENST00000493925SWI5chr9

131048312

+DNM1chr9

130980510

+
5CDS-intronENST00000419867ENST00000493925SWI5chr9

131048312

+DNM1chr9

130980510

+
5CDS-intronENST00000495313ENST00000493925SWI5chr9

131048312

+DNM1chr9

130980510

+
5CDS-intronENST00000608796ENST00000493925SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000320188ENST00000341179SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000320188ENST00000372923SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000320188ENST00000393594SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000320188ENST00000475805SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000320188ENST00000486160SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000418976ENST00000341179SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000418976ENST00000372923SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000418976ENST00000393594SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000418976ENST00000475805SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000418976ENST00000486160SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000419867ENST00000341179SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000419867ENST00000372923SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000419867ENST00000393594SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000419867ENST00000475805SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000419867ENST00000486160SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000495313ENST00000341179SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000495313ENST00000372923SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000495313ENST00000393594SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000495313ENST00000475805SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000495313ENST00000486160SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000608796ENST00000341179SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000608796ENST00000372923SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000608796ENST00000393594SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000608796ENST00000475805SWI5chr9

131048312

+DNM1chr9

130980510

+
Frame-shiftENST00000608796ENST00000486160SWI5chr9

131048312

+DNM1chr9

130980510

+

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 SWI5-DNM1


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)
SWI5chr9131048312+DNM1chr9130980509+5.40E-070.9999994
SWI5chr9131048312+DNM1chr9130980509+5.40E-070.9999994

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 SWI5-DNM1


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/:131048312/:130980510)
- 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
.DNM1

O00429

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: Functions in mitochondrial and peroxisomal division (PubMed:9570752, PubMed:9786947, PubMed:11514614, PubMed:12499366, PubMed:17301055, PubMed:17553808, PubMed:17460227, PubMed:18695047, PubMed:18838687, PubMed:19638400, PubMed:19411255, PubMed:19342591, PubMed:23921378, PubMed:23283981, PubMed:23530241, PubMed:29478834, PubMed:32484300, PubMed:27145208, PubMed:26992161, PubMed:27301544, PubMed:27328748). Mediates membrane fission through oligomerization into membrane-associated tubular structures that wrap around the scission site to constrict and sever the mitochondrial membrane through a GTP hydrolysis-dependent mechanism (PubMed:23530241, PubMed:23584531). The specific recruitment at scission sites is mediated by membrane receptors like MFF, MIEF1 and MIEF2 for mitochondrial membranes (PubMed:23921378, PubMed:23283981, PubMed:29899447). While the recruitment by the membrane receptors is GTP-dependent, the following hydrolysis of GTP induces the dissociation from the receptors and allows DNM1L filaments to curl into closed rings that are probably sufficient to sever a double membrane (PubMed:29899447). Acts downstream of PINK1 to promote mitochondrial fission in a PRKN-dependent manner (PubMed:32484300). Plays an important role in mitochondrial fission during mitosis (PubMed:19411255, PubMed:26992161, PubMed:27301544, PubMed:27328748). Through its function in mitochondrial division, ensures the survival of at least some types of postmitotic neurons, including Purkinje cells, by suppressing oxidative damage (By similarity). Required for normal brain development, including that of cerebellum (PubMed:17460227, PubMed:27145208, PubMed:26992161, PubMed:27301544, PubMed:27328748). Facilitates developmentally regulated apoptosis during neural tube formation (By similarity). Required for a normal rate of cytochrome c release and caspase activation during apoptosis; this requirement may depend upon the cell type and the physiological apoptotic cues (By similarity). Required for formation of endocytic vesicles (PubMed:9570752, PubMed:20688057, PubMed:23792689). Proposed to regulate synaptic vesicle membrane dynamics through association with BCL2L1 isoform Bcl-X(L) which stimulates its GTPase activity in synaptic vesicles; the function may require its recruitment by MFF to clathrin-containing vesicles (PubMed:17015472, PubMed:23792689). Required for programmed necrosis execution (PubMed:22265414). Rhythmic control of its activity following phosphorylation at Ser-637 is essential for the circadian control of mitochondrial ATP production (PubMed:29478834). {ECO:0000250|UniProtKB:Q8K1M6, ECO:0000269|PubMed:11514614, ECO:0000269|PubMed:12499366, ECO:0000269|PubMed:17015472, ECO:0000269|PubMed:17301055, ECO:0000269|PubMed:17460227, ECO:0000269|PubMed:17553808, ECO:0000269|PubMed:18695047, ECO:0000269|PubMed:18838687, ECO:0000269|PubMed:19342591, ECO:0000269|PubMed:19411255, ECO:0000269|PubMed:19638400, ECO:0000269|PubMed:20688057, ECO:0000269|PubMed:22265414, ECO:0000269|PubMed:23283981, ECO:0000269|PubMed:23530241, ECO:0000269|PubMed:23584531, ECO:0000269|PubMed:23792689, ECO:0000269|PubMed:23921378, ECO:0000269|PubMed:26992161, ECO:0000269|PubMed:27145208, ECO:0000269|PubMed:27301544, ECO:0000269|PubMed:27328748, ECO:0000269|PubMed:29478834, ECO:0000269|PubMed:29899447, ECO:0000269|PubMed:32484300, ECO:0000269|PubMed:9570752, ECO:0000269|PubMed:9786947}.; FUNCTION: [Isoform 1]: Inhibits peroxisomal division when overexpressed. {ECO:0000269|PubMed:12618434}.; FUNCTION: [Isoform 4]: Inhibits peroxisomal division when overexpressed. {ECO:0000269|PubMed:12618434}.

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 SWI5-DNM1


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 SWI5-DNM1


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 SWI5-DNM1


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 SWI5-DNM1


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