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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:DIAPH2-NRP2 (FusionGDB2 ID:22758)

Fusion Gene Summary for DIAPH2-NRP2

check button Fusion gene summary
Fusion gene informationFusion gene name: DIAPH2-NRP2
Fusion gene ID: 22758
HgeneTgene
Gene symbol

DIAPH2

NRP2

Gene ID

1730

8828

Gene namediaphanous related formin 2neuropilin 2
SynonymsDIA|DIA2|DRF2|POF|POF2|POF2ANP2|NPN2|PRO2714|VEGF165R2
Cytomap

Xq21.33

2q33.3

Type of geneprotein-codingprotein-coding
Descriptionprotein diaphanous homolog 2diaphanous homolog 2diaphorase-2neuropilin-2neuropilin-2a(17)neuropilin-2a(22)neuropilin-2b(0)receptor for VEGF165 and semaphorins class3vascular endothelial cell growth factor 165 receptor 2
Modification date2020031320200313
UniProtAcc

O60879

O60462

Ensembl transtripts involved in fusion geneENST00000324765, ENST00000355827, 
ENST00000373049, ENST00000373054, 
ENST00000373061, 		ENST00000272849, 
ENST00000355117, ENST00000357118, 
ENST00000357785, ENST00000360409, 
ENST00000412873, ENST00000417189, 
ENST00000485684, ENST00000540178, 
ENST00000540841, 
Fusion gene scores* DoF score17 X 16 X 7=19046 X 5 X 5=150
# samples 186
** MAII scorelog2(18/1904*10)=-3.40296466697827
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DIAPH2 [Title/Abstract] AND NRP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIAPH2(95940189)-NRP2(206656959), # samples:3
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 DIAPH2 (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 NRP2 (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
ChimerDB4LIHCTCGA-XR-A8TG-01ADIAPH2chrX

95940189

-NRP2chr2

206656959

+
ChimerDB4LIHCTCGA-XR-A8TG-01ADIAPH2chrX

95940189

+NRP2chr2

206656959

+


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Fusion Gene ORF analysis for DIAPH2-NRP2

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
5CDS-intronENST00000324765ENST00000272849DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000324765ENST00000355117DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000324765ENST00000357118DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000324765ENST00000357785DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000324765ENST00000360409DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000324765ENST00000412873DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000324765ENST00000417189DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000324765ENST00000485684DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000324765ENST00000540178DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000324765ENST00000540841DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000355827ENST00000272849DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000355827ENST00000355117DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000355827ENST00000357118DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000355827ENST00000357785DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000355827ENST00000360409DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000355827ENST00000412873DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000355827ENST00000417189DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000355827ENST00000485684DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000355827ENST00000540178DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000355827ENST00000540841DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373049ENST00000272849DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373049ENST00000355117DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373049ENST00000357118DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373049ENST00000357785DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373049ENST00000360409DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373049ENST00000412873DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373049ENST00000417189DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373049ENST00000485684DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373049ENST00000540178DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373049ENST00000540841DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373054ENST00000272849DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373054ENST00000355117DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373054ENST00000357118DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373054ENST00000357785DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373054ENST00000360409DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373054ENST00000412873DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373054ENST00000417189DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373054ENST00000485684DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373054ENST00000540178DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373054ENST00000540841DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373061ENST00000272849DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373061ENST00000355117DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373061ENST00000357118DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373061ENST00000357785DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373061ENST00000360409DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373061ENST00000412873DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373061ENST00000417189DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373061ENST00000485684DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373061ENST00000540178DIAPH2chrX

95940189

+NRP2chr2

206656959

+
5CDS-intronENST00000373061ENST00000540841DIAPH2chrX

95940189

+NRP2chr2

206656959

+

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 DIAPH2-NRP2


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)
DIAPH2chrX95940189+NRP2chr2206656958+7.05E-091
DIAPH2chrX95940189+NRP2chr2206656958+7.05E-091

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 DIAPH2-NRP2


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/:95940189/:206656959)
- 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
DIAPH2

O60879

NRP2

O60462

FUNCTION: Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the motility of early endosomes through interactions with the actin cytoskeleton. {ECO:0000269|PubMed:12577064}.FUNCTION: High affinity receptor for semaphorins 3C, 3F, VEGF-165 and VEGF-145 isoforms of VEGF, and the PLGF-2 isoform of PGF.; FUNCTION: (Microbial infection) Acts as a receptor for human cytomegalovirus pentamer-dependent entry in epithelial and endothelial cells. {ECO:0000269|PubMed:30057110}.

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 DIAPH2-NRP2


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 DIAPH2-NRP2


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 DIAPH2-NRP2


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 DIAPH2-NRP2


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