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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:RBFOX3-DCDC2 (FusionGDB2 ID:72710)

Fusion Gene Summary for RBFOX3-DCDC2

check button Fusion gene summary
Fusion gene informationFusion gene name: RBFOX3-DCDC2
Fusion gene ID: 72710
HgeneTgene
Gene symbol

RBFOX3

DCDC2

Gene ID

146713

51473

Gene nameRNA binding fox-1 homolog 3doublecortin domain containing 2
SynonymsFOX-3|FOX3|HRNBP3|NEUNDCDC2A|DFNB66|NPHP19|NSC|RU2|RU2S
Cytomap

17q25.3

6p22.3

Type of geneprotein-codingprotein-coding
DescriptionRNA binding protein fox-1 homolog 3RNA binding protein, fox-1 homolog 3fox-1 homolog Chexaribonucleotide binding protein 3neuN antigenneuronal nuclei antigendoublecortin domain-containing protein 2
Modification date2020031320200313
UniProtAcc.

Q9UHG0

Ensembl transtripts involved in fusion geneENST00000415831, ENST00000453134, 
ENST00000578887, ENST00000580155, 
ENST00000583458, ENST00000584778, 
ENST00000582043, 
ENST00000378454, 
ENST00000378450, 
Fusion gene scores* DoF score5 X 5 X 3=7514 X 8 X 11=1232
# samples 516
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/1232*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RBFOX3 [Title/Abstract] AND DCDC2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRBFOX3(77303805)-DCDC2(24358075), # 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

check buttonFusion gene breakpoints across RBFOX3 (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 DCDC2 (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-09-0364RBFOX3chr17

77303805

-DCDC2chr6

24358075

-


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Fusion Gene ORF analysis for RBFOX3-DCDC2

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-5UTRENST00000415831ENST00000378454RBFOX3chr17

77303805

-DCDC2chr6

24358075

-
5UTR-5UTRENST00000453134ENST00000378454RBFOX3chr17

77303805

-DCDC2chr6

24358075

-
5UTR-5UTRENST00000578887ENST00000378454RBFOX3chr17

77303805

-DCDC2chr6

24358075

-
5UTR-5UTRENST00000580155ENST00000378454RBFOX3chr17

77303805

-DCDC2chr6

24358075

-
5UTR-5UTRENST00000583458ENST00000378454RBFOX3chr17

77303805

-DCDC2chr6

24358075

-
5UTR-5UTRENST00000584778ENST00000378454RBFOX3chr17

77303805

-DCDC2chr6

24358075

-
5UTR-intronENST00000415831ENST00000378450RBFOX3chr17

77303805

-DCDC2chr6

24358075

-
5UTR-intronENST00000453134ENST00000378450RBFOX3chr17

77303805

-DCDC2chr6

24358075

-
5UTR-intronENST00000578887ENST00000378450RBFOX3chr17

77303805

-DCDC2chr6

24358075

-
5UTR-intronENST00000580155ENST00000378450RBFOX3chr17

77303805

-DCDC2chr6

24358075

-
5UTR-intronENST00000583458ENST00000378450RBFOX3chr17

77303805

-DCDC2chr6

24358075

-
5UTR-intronENST00000584778ENST00000378450RBFOX3chr17

77303805

-DCDC2chr6

24358075

-
intron-5UTRENST00000582043ENST00000378454RBFOX3chr17

77303805

-DCDC2chr6

24358075

-
intron-intronENST00000582043ENST00000378450RBFOX3chr17

77303805

-DCDC2chr6

24358075

-

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 RBFOX3-DCDC2


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 RBFOX3-DCDC2


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/:77303805/:24358075)
- 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
.DCDC2

Q9UHG0

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: Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length (PubMed:25601850, PubMed:27319779). {ECO:0000250|UniProtKB:D3ZR10, ECO:0000269|PubMed:25557784, ECO:0000269|PubMed:25601850, ECO:0000269|PubMed:27319779}.

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 RBFOX3-DCDC2


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 RBFOX3-DCDC2


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 RBFOX3-DCDC2


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 RBFOX3-DCDC2


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