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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:ARHGAP22-AQP1 (FusionGDB2 ID:5996)

Fusion Gene Summary for ARHGAP22-AQP1

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGAP22-AQP1
Fusion gene ID: 5996
HgeneTgene
Gene symbol

ARHGAP22

AQP1

Gene ID

58504

84182

Gene nameRho GTPase activating protein 22MINDY lysine 48 deubiquitinase 4
SynonymsRhoGAP2|RhoGap22AQP-1|AQP1|C7orf67|CHIP28|FAM188B
Cytomap

10q11.22-q11.23

7p14.3

Type of geneprotein-codingprotein-coding
Descriptionrho GTPase-activating protein 22rho-type GTPase-activating protein 22probable ubiquitin carboxyl-terminal hydrolase MINDY-4Aquaporin-1Aquaporin-CHIPMINDY deubiquitinase 4Urine water channelWater channel protein for red blood cells and kidney proximal tubulefamily with sequence similarity 188 member Bprobable deubiqu
Modification date2020032220200313
UniProtAcc

Q7Z5H3

Q8NBQ7

Ensembl transtripts involved in fusion geneENST00000249601, ENST00000374170, 
ENST00000374172, ENST00000417247, 
ENST00000417912, ENST00000435790, 
ENST00000477708, ENST00000491108, 
ENST00000311813, ENST00000441328, 
ENST00000409611, ENST00000409899, 
ENST00000434909, ENST00000482461, 
ENST00000509504, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 7 X 3=105
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/105*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGAP22 [Title/Abstract] AND AQP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGAP22(49700436)-AQP1(30965008), # 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
HgeneARHGAP22

GO:0099175

regulation of postsynapse organization

21926414


check buttonFusion gene breakpoints across ARHGAP22 (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 AQP1 (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/AEB387289ARHGAP22chr10

49700436

-AQP1chr7

30965008

+


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Fusion Gene ORF analysis for ARHGAP22-AQP1

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-3UTRENST00000249601ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000249601ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000374170ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000374170ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000374172ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000374172ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000417247ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000417247ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000417912ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000417912ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000435790ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000435790ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000477708ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000477708ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000491108ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000491108ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000249601ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000249601ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000249601ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000249601ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000249601ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374170ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374170ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374170ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374170ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374170ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374172ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374172ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374172ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374172ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374172ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417247ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417247ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417247ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417247ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417247ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417912ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417912ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417912ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417912ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417912ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000435790ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000435790ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000435790ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000435790ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000435790ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000477708ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000477708ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000477708ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000477708ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000477708ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000491108ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000491108ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000491108ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000491108ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000491108ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+

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 ARHGAP22-AQP1


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 ARHGAP22-AQP1


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/:49700436/:30965008)
- 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
ARHGAP22

Q7Z5H3

AQP1

Q8NBQ7

FUNCTION: Rho GTPase-activating protein involved in the signal transduction pathway that regulates endothelial cell capillary tube formation during angiogenesis. Acts as a GTPase activator for the RAC1 by converting it to an inactive GDP-bound state. Inhibits RAC1-dependent lamellipodia formation. May also play a role in transcription regulation via its interaction with VEZF1, by regulating activity of the endothelin-1 (EDN1) promoter (By similarity). {ECO:0000250}.FUNCTION: Channel protein that facilitates the transport of water, glycerol and hydrogen peroxide across membrane of cell or organelles guaranteeing intracellular homeostasis in several organes like liver, kidney and brain (PubMed:24845055, PubMed:24918044, PubMed:31546170). In situation of stress, participates in endoplasmic reticulum (ER) homeostasis by regulating redox homeostasis through the transport of hydrogen peroxide across the endoplasmic reticulum membrane thereby regulating the oxidative stress through the NADPH oxidase 2 pathway (PubMed:31546170). Plays a role by maintaining an environment suitable for translation or protein foldings in the ER lumen namely by participating in the PKD1 glycosylation processing resulting in regulation of PKD1 membrane trafficking thereby preventing the accumulation of unfolding protein in ER (By similarity). Plays a role in the proximal tubule function by regulating its endosomal acidification (By similarity). May play a role in postnatal kidney development (By similarity). {ECO:0000250|UniProtKB:Q8BHH1, ECO:0000269|PubMed:24845055, ECO:0000269|PubMed:24918044, ECO:0000269|PubMed:31546170}.

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 ARHGAP22-AQP1


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 ARHGAP22-AQP1


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 ARHGAP22-AQP1


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 ARHGAP22-AQP1


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