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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:RBFOX2-MED16 (FusionGDB2 ID:72682)

Fusion Gene Summary for RBFOX2-MED16

check button Fusion gene summary
Fusion gene informationFusion gene name: RBFOX2-MED16
Fusion gene ID: 72682
HgeneTgene
Gene symbol

RBFOX2

MED16

Gene ID

23543

10025

Gene nameRNA binding fox-1 homolog 2mediator complex subunit 16
SynonymsFOX2|Fox-2|HNRBP2|HRNBP2|RBM9|RTA|dJ106I20.3|fxhDRIP92|THRAP5|TRAP95
Cytomap

22q12.3

19p13.3

Type of geneprotein-codingprotein-coding
DescriptionRNA binding protein fox-1 homolog 2RNA binding protein, fox-1 homolog 2RNA-binding motif protein 9fox-1 homolog Bfox-1 homologuehexaribonucleotide-binding protein 2repressor of tamoxifen transcriptional activitymediator of RNA polymerase II transcription subunit 16thyroid hormone receptor-associated protein 5thyroid hormone receptor-associated protein complex 95 kDa componentthyroid hormone receptor-associated protein, 95-kD subunitvitamin D3 receptor-intera
Modification date2020032720200313
UniProtAcc.

Q9Y2X0

Ensembl transtripts involved in fusion geneENST00000262829, ENST00000359369, 
ENST00000397303, ENST00000405409, 
ENST00000414461, ENST00000416721, 
ENST00000438146, ENST00000449924, 
ENST00000269814, ENST00000312090, 
ENST00000325464, ENST00000395808, 
ENST00000589119, ENST00000606828, 
Fusion gene scores* DoF score39 X 29 X 13=147038 X 8 X 6=384
# samples 489
** MAII scorelog2(48/14703*10)=-4.93693233652239
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/384*10)=-2.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RBFOX2 [Title/Abstract] AND MED16 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRBFOX2(36137340)-MED16(876580), # 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
HgeneRBFOX2

GO:0030520

intracellular estrogen receptor signaling pathway

11875103

HgeneRBFOX2

GO:0045892

negative regulation of transcription, DNA-templated

11875103

TgeneMED16

GO:0006367

transcription initiation from RNA polymerase II promoter

12218053

TgeneMED16

GO:0045893

positive regulation of transcription, DNA-templated

10198638


check buttonFusion gene breakpoints across RBFOX2 (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 MED16 (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/ABF766064RBFOX2chr22

36137340

+MED16chr19

876580

-


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Fusion Gene ORF analysis for RBFOX2-MED16

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-intronENST00000262829ENST00000269814RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000262829ENST00000312090RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000262829ENST00000325464RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000262829ENST00000395808RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000262829ENST00000589119RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000262829ENST00000606828RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000359369ENST00000269814RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000359369ENST00000312090RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000359369ENST00000325464RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000359369ENST00000395808RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000359369ENST00000589119RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000359369ENST00000606828RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000397303ENST00000269814RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000397303ENST00000312090RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000397303ENST00000325464RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000397303ENST00000395808RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000397303ENST00000589119RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000397303ENST00000606828RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000405409ENST00000269814RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000405409ENST00000312090RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000405409ENST00000325464RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000405409ENST00000395808RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000405409ENST00000589119RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000405409ENST00000606828RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000414461ENST00000269814RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000414461ENST00000312090RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000414461ENST00000325464RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000414461ENST00000395808RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000414461ENST00000589119RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000414461ENST00000606828RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000416721ENST00000269814RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000416721ENST00000312090RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000416721ENST00000325464RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000416721ENST00000395808RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000416721ENST00000589119RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000416721ENST00000606828RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000438146ENST00000269814RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000438146ENST00000312090RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000438146ENST00000325464RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000438146ENST00000395808RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000438146ENST00000589119RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000438146ENST00000606828RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000449924ENST00000269814RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000449924ENST00000312090RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000449924ENST00000325464RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000449924ENST00000395808RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000449924ENST00000589119RBFOX2chr22

36137340

+MED16chr19

876580

-
intron-intronENST00000449924ENST00000606828RBFOX2chr22

36137340

+MED16chr19

876580

-

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 RBFOX2-MED16


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 RBFOX2-MED16


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/:36137340/:876580)
- 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
.MED16

Q9Y2X0

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: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. {ECO:0000269|PubMed:10198638, ECO:0000269|PubMed:10235266}.

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 RBFOX2-MED16


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 RBFOX2-MED16


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 RBFOX2-MED16


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 RBFOX2-MED16


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