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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:DPY30-MCU (FusionGDB2 ID:24093)

Fusion Gene Summary for DPY30-MCU

check button Fusion gene summary
Fusion gene informationFusion gene name: DPY30-MCU
Fusion gene ID: 24093
HgeneTgene
Gene symbol

DPY30

MCU

Gene ID

84661

90550

Gene namedpy-30 histone methyltransferase complex regulatory subunitmitochondrial calcium uniporter
SynonymsCps25|HDPY-30|Saf19C10orf42|CCDC109A|HsMCU
Cytomap

2p22.3

10q22.1

Type of geneprotein-codingprotein-coding
Descriptionprotein dpy-30 homologdpy-30 homologdpy-30-like proteindpy-30Lcalcium uniporter protein, mitochondrialcoiled-coil domain-containing protein 109A
Modification date2020031320200313
UniProtAcc

DYDC2

Q96AQ8

Ensembl transtripts involved in fusion geneENST00000446765, ENST00000295066, 
ENST00000342166, 
ENST00000357157, 
ENST00000373053, ENST00000536019, 
ENST00000605416, 
Fusion gene scores* DoF score5 X 5 X 4=1007 X 5 X 5=175
# samples 57
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/175*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DPY30 [Title/Abstract] AND MCU [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDPY30(32142995)-MCU(74594117), # 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
HgeneDPY30

GO:0051568

histone H3-K4 methylation

19556245

TgeneMCU

GO:0006851

mitochondrial calcium ion transmembrane transport

21685888|24560927

TgeneMCU

GO:0019722

calcium-mediated signaling

21685886|21685888

TgeneMCU

GO:0036444

calcium import into the mitochondrion

22925203

TgeneMCU

GO:0051259

protein complex oligomerization

21685886

TgeneMCU

GO:0051561

positive regulation of mitochondrial calcium ion concentration

21685888|24560927


check buttonFusion gene breakpoints across DPY30 (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 MCU (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
ChimerDB4ACCTCGA-OR-A5K5-01ADPY30chr2

32142995

-MCUchr10

74594117

+


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Fusion Gene ORF analysis for DPY30-MCU

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
5UTR-3CDSENST00000446765ENST00000357157DPY30chr2

32142995

-MCUchr10

74594117

+
5UTR-3CDSENST00000446765ENST00000373053DPY30chr2

32142995

-MCUchr10

74594117

+
5UTR-3CDSENST00000446765ENST00000536019DPY30chr2

32142995

-MCUchr10

74594117

+
5UTR-intronENST00000446765ENST00000605416DPY30chr2

32142995

-MCUchr10

74594117

+
intron-3CDSENST00000295066ENST00000357157DPY30chr2

32142995

-MCUchr10

74594117

+
intron-3CDSENST00000295066ENST00000373053DPY30chr2

32142995

-MCUchr10

74594117

+
intron-3CDSENST00000295066ENST00000536019DPY30chr2

32142995

-MCUchr10

74594117

+
intron-3CDSENST00000342166ENST00000357157DPY30chr2

32142995

-MCUchr10

74594117

+
intron-3CDSENST00000342166ENST00000373053DPY30chr2

32142995

-MCUchr10

74594117

+
intron-3CDSENST00000342166ENST00000536019DPY30chr2

32142995

-MCUchr10

74594117

+
intron-intronENST00000295066ENST00000605416DPY30chr2

32142995

-MCUchr10

74594117

+
intron-intronENST00000342166ENST00000605416DPY30chr2

32142995

-MCUchr10

74594117

+

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 DPY30-MCU


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)
DPY30chr232142994-MCUchr1074594116+0.0024580940.9975419
DPY30chr232142994-MCUchr1074594116+0.0024580940.9975419

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 DPY30-MCU


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/:32142995/:74594117)
- 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
DPY30

DYDC2

MCU

Q96AQ8

177FUNCTION: Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion (PubMed:23178883, PubMed:26445506, PubMed:27184846, PubMed:26976564). Plays a direct role in uniporter-mediated calcium uptake via a direct interaction with MCU (PubMed:23178883). Probably involved in the assembly of the membrane components of the uniporter complex (uniplex) (PubMed:27184846). {ECO:0000269|PubMed:23178883, ECO:0000269|PubMed:26445506, ECO:0000269|PubMed:26976564, ECO:0000269|PubMed:27184846}.

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 DPY30-MCU


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 DPY30-MCU


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 DPY30-MCU


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 DPY30-MCU


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