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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-AGFG1 (FusionGDB2 ID:22747)

Fusion Gene Summary for DIAPH2-AGFG1

check button Fusion gene summary
Fusion gene informationFusion gene name: DIAPH2-AGFG1
Fusion gene ID: 22747
HgeneTgene
Gene symbol

DIAPH2

AGFG1

Gene ID

1730

3267

Gene namediaphanous related formin 2ArfGAP with FG repeats 1
SynonymsDIA|DIA2|DRF2|POF|POF2|POF2AHRB|RAB|RIP
Cytomap

Xq21.33

2q36.3

Type of geneprotein-codingprotein-coding
Descriptionprotein diaphanous homolog 2diaphanous homolog 2diaphorase-2arf-GAP domain and FG repeat-containing protein 1HIV-1 Rev-binding proteinRab, Rev/Rex activation domain-binding proteinarf-GAP domain and FG repeats-containing protein 1hRIP, Rev interacting proteinnucleoporin-like protein RIPrev-interacting protei
Modification date2020031320200313
UniProtAcc

O60879

P52594

Ensembl transtripts involved in fusion geneENST00000324765, ENST00000355827, 
ENST00000373049, ENST00000373054, 
ENST00000373061, 		ENST00000310078, 
ENST00000373671, ENST00000409171, 
ENST00000409315, ENST00000409979, 
ENST00000486932, 
Fusion gene scores* DoF score17 X 16 X 7=190410 X 11 X 4=440
# samples 1811
** MAII scorelog2(18/1904*10)=-3.40296466697827
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/440*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DIAPH2 [Title/Abstract] AND AGFG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIAPH2(95977072)-AGFG1(228353625), # 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 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 AGFG1 (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/ADL059940DIAPH2chrX

95977072

-AGFG1chr2

228353625

+


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Fusion Gene ORF analysis for DIAPH2-AGFG1

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-intronENST00000324765ENST00000310078DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000324765ENST00000373671DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000324765ENST00000409171DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000324765ENST00000409315DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000324765ENST00000409979DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000324765ENST00000486932DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000355827ENST00000310078DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000355827ENST00000373671DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000355827ENST00000409171DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000355827ENST00000409315DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000355827ENST00000409979DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000355827ENST00000486932DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373049ENST00000310078DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373049ENST00000373671DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373049ENST00000409171DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373049ENST00000409315DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373049ENST00000409979DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373049ENST00000486932DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373054ENST00000310078DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373054ENST00000373671DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373054ENST00000409171DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373054ENST00000409315DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373054ENST00000409979DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373054ENST00000486932DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373061ENST00000310078DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373061ENST00000373671DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373061ENST00000409171DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373061ENST00000409315DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373061ENST00000409979DIAPH2chrX

95977072

-AGFG1chr2

228353625

+
intron-intronENST00000373061ENST00000486932DIAPH2chrX

95977072

-AGFG1chr2

228353625

+

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-AGFG1


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 DIAPH2-AGFG1


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/:95977072/:228353625)
- 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

AGFG1

P52594

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: Required for vesicle docking or fusion during acrosome biogenesis (By similarity). May play a role in RNA trafficking or localization. In case of infection by HIV-1, acts as a cofactor for viral Rev and promotes movement of Rev-responsive element-containing RNAs from the nuclear periphery to the cytoplasm. This step is essential for HIV-1 replication. {ECO:0000250, ECO:0000269|PubMed:10613896, ECO:0000269|PubMed:14701878, ECO:0000269|PubMed:15749819}.

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-AGFG1


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-AGFG1


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-AGFG1


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-AGFG1


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