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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:DENND2A-CSF2RA (FusionGDB2 ID:22228)

Fusion Gene Summary for DENND2A-CSF2RA

check button Fusion gene summary
Fusion gene informationFusion gene name: DENND2A-CSF2RA
Fusion gene ID: 22228
HgeneTgene
Gene symbol

DENND2A

CSF2RA

Gene ID

27147

1438

Gene nameDENN domain containing 2Acolony stimulating factor 2 receptor subunit alpha
SynonymsFAM31D|KIAA1277CD116|CDw116|CSF2R|CSF2RAX|CSF2RAY|CSF2RX|CSF2RY|GM-CSF-R-alpha|GMCSFR|GMCSFR-alpha|GMR|GMR-alpha|SMDP4|alphaGMR
Cytomap

7q34

Xp22.33 and Yp11.2

Type of geneprotein-codingprotein-coding
DescriptionDENN domain-containing protein 2ADENN/MADD domain containing 2Agranulocyte-macrophage colony-stimulating factor receptor subunit alphaCD116 antigenGM-CSF receptor alpha subunitalpha-GM-CSF receptorcolony stimulating factor 2 receptor alpha subunitcolony stimulating factor 2 receptor, alpha, low-affinity (granulo
Modification date2020031320200326
UniProtAcc

Q9ULE3

P15509

Ensembl transtripts involved in fusion geneENST00000275884, ENST00000492720, 
ENST00000496613, ENST00000537639, 
ENST00000355432, ENST00000355805, 
ENST00000361536, ENST00000381500, 
ENST00000381509, ENST00000381524, 
ENST00000381529, ENST00000417535, 
ENST00000432318, ENST00000494969, 
ENST00000498153, ENST00000501036, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 9 X 3=216
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/216*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DENND2A [Title/Abstract] AND CSF2RA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDENND2A(140261481)-CSF2RA(1345885), # 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 DENND2A (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 CSF2RA (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/AEI791857DENND2Achr7

140261481

+CSF2RAchrY

1345885

-


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Fusion Gene ORF analysis for DENND2A-CSF2RA

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-intronENST00000275884ENST00000355432DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000275884ENST00000355805DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000275884ENST00000361536DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000275884ENST00000381500DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000275884ENST00000381509DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000275884ENST00000381524DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000275884ENST00000381529DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000275884ENST00000417535DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000275884ENST00000432318DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000275884ENST00000494969DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000275884ENST00000498153DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000275884ENST00000501036DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000492720ENST00000355432DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000492720ENST00000355805DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000492720ENST00000361536DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000492720ENST00000381500DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000492720ENST00000381509DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000492720ENST00000381524DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000492720ENST00000381529DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000492720ENST00000417535DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000492720ENST00000432318DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000492720ENST00000494969DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000492720ENST00000498153DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000492720ENST00000501036DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000496613ENST00000355432DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000496613ENST00000355805DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000496613ENST00000361536DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000496613ENST00000381500DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000496613ENST00000381509DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000496613ENST00000381524DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000496613ENST00000381529DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000496613ENST00000417535DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000496613ENST00000432318DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000496613ENST00000494969DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000496613ENST00000498153DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000496613ENST00000501036DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000537639ENST00000355432DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000537639ENST00000355805DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000537639ENST00000361536DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000537639ENST00000381500DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000537639ENST00000381509DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000537639ENST00000381524DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000537639ENST00000381529DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000537639ENST00000417535DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000537639ENST00000432318DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000537639ENST00000494969DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000537639ENST00000498153DENND2Achr7

140261481

+CSF2RAchrY

1345885

-
intron-intronENST00000537639ENST00000501036DENND2Achr7

140261481

+CSF2RAchrY

1345885

-

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 DENND2A-CSF2RA


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 DENND2A-CSF2RA


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/:140261481/:1345885)
- 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
DENND2A

Q9ULE3

CSF2RA

P15509

FUNCTION: Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May play a role in late endosomes back to trans-Golgi network/TGN transport. {ECO:0000269|PubMed:20937701}.FUNCTION: Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells.

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 DENND2A-CSF2RA


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 DENND2A-CSF2RA


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 DENND2A-CSF2RA


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 DENND2A-CSF2RA


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