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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:ARHGEF9-DIP2A (FusionGDB2 ID:6365)

Fusion Gene Summary for ARHGEF9-DIP2A

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF9-DIP2A
Fusion gene ID: 6365
HgeneTgene
Gene symbol

ARHGEF9

DIP2A

Gene ID

23229

23181

Gene nameCdc42 guanine nucleotide exchange factor 9disco interacting protein 2 homolog A
SynonymsCOLLYBISTIN|EIEE8|HPEM-2|PEM-2|PEM2C21orf106|DIP2
Cytomap

Xq11.1

21q22.3

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 9Cdc42 guanine nucleotide exchange factor (GEF) 9PEM-2 homologhPEM-2 collybistinrac/Cdc42 guanine nucleotide exchange factor 9disco-interacting protein 2 homolog ADIP2 disco-interacting protein 2 homolog ADIP2 homolog Adisco-interacting protein 2A
Modification date2020031320200313
UniProtAcc

O43307

Q14689

Ensembl transtripts involved in fusion geneENST00000253401, ENST00000374870, 
ENST00000374872, ENST00000374878, 
ENST00000433323, ENST00000437457, 
ENST00000495564, 		ENST00000318711, 
ENST00000400274, ENST00000417564, 
ENST00000427143, ENST00000435722, 
ENST00000457905, ENST00000466639, 
ENST00000479654, 
Fusion gene scores* DoF score4 X 5 X 3=606 X 7 X 4=168
# samples 57
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGEF9 [Title/Abstract] AND DIP2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGEF9(62860231)-DIP2A(47970554), # 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
TgeneDIP2A

GO:0010629

negative regulation of gene expression

20860622


check buttonFusion gene breakpoints across ARHGEF9 (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 DIP2A (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/ABE696194ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+


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Fusion Gene ORF analysis for ARHGEF9-DIP2A

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-3CDSENST00000253401ENST00000318711ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000253401ENST00000400274ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000253401ENST00000417564ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000253401ENST00000427143ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000374870ENST00000318711ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000374870ENST00000400274ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000374870ENST00000417564ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000374870ENST00000427143ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000374872ENST00000318711ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000374872ENST00000400274ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000374872ENST00000417564ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000374872ENST00000427143ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000374878ENST00000318711ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000374878ENST00000400274ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000374878ENST00000417564ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000374878ENST00000427143ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000433323ENST00000318711ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000433323ENST00000400274ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000433323ENST00000417564ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000433323ENST00000427143ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000437457ENST00000318711ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000437457ENST00000400274ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000437457ENST00000417564ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000437457ENST00000427143ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000495564ENST00000318711ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000495564ENST00000400274ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000495564ENST00000417564ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-3CDSENST00000495564ENST00000427143ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000253401ENST00000435722ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000253401ENST00000457905ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000253401ENST00000466639ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000253401ENST00000479654ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000374870ENST00000435722ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000374870ENST00000457905ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000374870ENST00000466639ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000374870ENST00000479654ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000374872ENST00000435722ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000374872ENST00000457905ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000374872ENST00000466639ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000374872ENST00000479654ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000374878ENST00000435722ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000374878ENST00000457905ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000374878ENST00000466639ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000374878ENST00000479654ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000433323ENST00000435722ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000433323ENST00000457905ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000433323ENST00000466639ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000433323ENST00000479654ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000437457ENST00000435722ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000437457ENST00000457905ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000437457ENST00000466639ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000437457ENST00000479654ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000495564ENST00000435722ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000495564ENST00000457905ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000495564ENST00000466639ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+
intron-intronENST00000495564ENST00000479654ARHGEF9chrX

62860231

-DIP2Achr21

47970554

+

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 ARHGEF9-DIP2A


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 ARHGEF9-DIP2A


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/:62860231/:47970554)
- 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
ARHGEF9

O43307

DIP2A

Q14689

FUNCTION: Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity). {ECO:0000250|UniProtKB:Q9QX73, ECO:0000269|PubMed:10559246}.FUNCTION: Catalyzes the de novo synthesis of acetyl-CoA in vitro (By similarity). Promotes acetylation of CTTN, possibly by providing the acetyl donor, ensuring correct dendritic spine morphology and synaptic transmission (By similarity). Binds to follistatin-related protein FSTL1 and may act as a cell surface receptor for FSTL1, contributing to AKT activation and subsequent FSTL1-induced survival and function of endothelial cells and cardiac myocytes (PubMed:20054002). {ECO:0000250|UniProtKB:Q8BWT5, ECO:0000269|PubMed:20054002}.

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 ARHGEF9-DIP2A


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 ARHGEF9-DIP2A


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 ARHGEF9-DIP2A


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 ARHGEF9-DIP2A


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