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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:DMD-CYTH2 (FusionGDB2 ID:23200)

Fusion Gene Summary for DMD-CYTH2

check button Fusion gene summary
Fusion gene informationFusion gene name: DMD-CYTH2
Fusion gene ID: 23200
HgeneTgene
Gene symbol

DMD

CYTH2

Gene ID

1756

9266

Gene namedystrophincytohesin 2
SynonymsBMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85ARNO|CTS18|CTS18.1|PSCD2|PSCD2L|SEC7L|Sec7p-L|Sec7p-like|cytohesin-2
Cytomap

Xp21.2-p21.1

19q13.33

Type of geneprotein-codingprotein-coding
Descriptiondystrophincytohesin-2ARF exchange factorARF nucleotide-binding site openerCTC-273B12.8PH, SEC7 and coiled-coil domain-containing protein 2pleckstrin homology, Sec7 and coiled-coil domains 2pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)
Modification date2020032920200327
UniProtAcc.

Q99418

Ensembl transtripts involved in fusion geneENST00000378707, ENST00000359836, 
ENST00000541735, ENST00000343523, 
ENST00000378677, ENST00000357033, 
ENST00000474231, ENST00000378723, 
ENST00000378702, ENST00000361471, 
ENST00000378680, ENST00000288447, 
ENST00000445312, 		ENST00000452733, 
ENST00000427476, 
Fusion gene scores* DoF score32 X 35 X 5=56006 X 6 X 3=108
# samples 366
** MAII scorelog2(36/5600*10)=-3.95935801550265
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DMD [Title/Abstract] AND CYTH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDMD(32451815)-CYTH2(48981373), # 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
HgeneDMD

GO:0043043

peptide biosynthetic process

16000376


check buttonFusion gene breakpoints across DMD (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 CYTH2 (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
ChiTaRS5.0N/AEC444660DMDchrX

32451815

+CYTH2chr19

48981373

+


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Fusion Gene ORF analysis for DMD-CYTH2

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
intron-3CDSENST00000378707ENST00000452733DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000378707ENST00000427476DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000359836ENST00000452733DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000359836ENST00000427476DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000541735ENST00000452733DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000541735ENST00000427476DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000343523ENST00000452733DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000343523ENST00000427476DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000378677ENST00000452733DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000378677ENST00000427476DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000357033ENST00000452733DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000357033ENST00000427476DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000474231ENST00000452733DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000474231ENST00000427476DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000378723ENST00000452733DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000378723ENST00000427476DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000378702ENST00000452733DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000378702ENST00000427476DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000361471ENST00000452733DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000361471ENST00000427476DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000378680ENST00000452733DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000378680ENST00000427476DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000288447ENST00000452733DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000288447ENST00000427476DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000445312ENST00000452733DMDchrX

32451815

+CYTH2chr19

48981373

+
intron-3CDSENST00000445312ENST00000427476DMDchrX

32451815

+CYTH2chr19

48981373

+

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 DMD-CYTH2


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 DMD-CYTH2


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
.CYTH2

Q99418

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: Acts as a guanine-nucleotide exchange factor (GEF). Promotes guanine-nucleotide exchange on ARF1, ARF3 and ARF6. Activates ARF factors through replacement of GDP with GTP (By similarity). The cell membrane form, in association with ARL4 proteins, recruits ARF6 to the plasma membrane (PubMed:17398095). Involved in neurite growth (By similarity). {ECO:0000250|UniProtKB:P63034, ECO:0000269|PubMed:17398095}.

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 DMD-CYTH2


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 DMD-CYTH2


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 DMD-CYTH2


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 DMD-CYTH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDMDC0013264Muscular Dystrophy, Duchenne18CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDMDC0917713Becker Muscular Dystrophy13CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDMDC3542021Duchenne and Becker Muscular Dystrophy11CTD_human
HgeneDMDC0026850Muscular Dystrophy4CTD_human
HgeneDMDC3668940Dmd-Associated Dilated Cardiomyopathy4CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneDMDC0033141Cardiomyopathies, Primary3CTD_human
HgeneDMDC0036529Myocardial Diseases, Secondary3CTD_human
HgeneDMDC0878544Cardiomyopathies3CTD_human;GENOMICS_ENGLAND
HgeneDMDC0006663Calcinosis1CTD_human
HgeneDMDC0007193Cardiomyopathy, Dilated1CTD_human
HgeneDMDC0018800Cardiomegaly1CTD_human
HgeneDMDC0023269leiomyosarcoma1CTD_human
HgeneDMDC0026851Muscular Dystrophy, Animal1CTD_human
HgeneDMDC0027540Necrosis1CTD_human
HgeneDMDC0027626Neoplasm Invasiveness1CTD_human
HgeneDMDC0027627Neoplasm Metastasis1CTD_human
HgeneDMDC0032460Polycystic Ovary Syndrome1CTD_human
HgeneDMDC0038220Status Epilepticus1CTD_human
HgeneDMDC0151786Muscle Weakness1CTD_human
HgeneDMDC0205815Leiomyosarcoma, Epithelioid1CTD_human
HgeneDMDC0205816Leiomyosarcoma, Myxoid1CTD_human
HgeneDMDC0206656Embryonal Rhabdomyosarcoma1CTD_human
HgeneDMDC0238198Gastrointestinal Stromal Tumors1CTD_human
HgeneDMDC0242973Ventricular Dysfunction1CTD_human
HgeneDMDC0263628Tumoral calcinosis1CTD_human
HgeneDMDC0270823Petit mal status1CTD_human
HgeneDMDC0311335Grand Mal Status Epilepticus1CTD_human
HgeneDMDC0340427Familial dilated cardiomyopathy1ORPHANET
HgeneDMDC0393734Complex Partial Status Epilepticus1CTD_human
HgeneDMDC0521174Microcalcification1CTD_human
HgeneDMDC0751522Status Epilepticus, Subclinical1CTD_human
HgeneDMDC0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneDMDC0751524Simple Partial Status Epilepticus1CTD_human
HgeneDMDC1136382Sclerocystic Ovaries1CTD_human
HgeneDMDC1383860Cardiac Hypertrophy1CTD_human
HgeneDMDC1449563Cardiomyopathy, Familial Idiopathic1CTD_human
HgeneDMDC2931498Mental Retardation, X-Linked 11ORPHANET
HgeneDMDC3179349Gastrointestinal Stromal Sarcoma1CTD_human