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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 2398

FusionGeneSummary for ARHGAP22_AQP1

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGAP22_AQP1
Fusion gene ID: 2398
HgeneTgene
Gene symbol

ARHGAP22

AQP1

Gene ID

58504

358

Gene nameRho GTPase activating protein 22aquaporin 1 (Colton blood group)
SynonymsRhoGAP2|RhoGap22AQP-CHIP|CHIP28|CO
Cytomap

10q11.22-q11.23

7p14.3

Type of geneprotein-codingprotein-coding
Descriptionrho GTPase-activating protein 22rho-type GTPase-activating protein 22aquaporin-1aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)aquaporin 1, Colton blood group antigenaquaporin-CHIPchannel-like integral membrane protein, 28-kDaurine water channelwater channel protein for red blood cells and kidne
Modification date2018052420180523
UniProtAcc

Q7Z5H3

P29972

Ensembl transtripts involved in fusion geneENST00000249601, ENST00000374170, 
ENST00000374172, ENST00000417247, 
ENST00000435790, ENST00000417912, 
ENST00000491108, ENST00000477708, 
ENST00000434909, ENST00000509504, 
ENST00000311813, ENST00000482461, 
ENST00000441328, ENST00000409899, 
ENST00000409611, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 2 X 3=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

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

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneAQP1

GO:0003097

renal water transport

9096382

TgeneAQP1

GO:0006182

cGMP biosynthetic process

14561230

TgeneAQP1

GO:0006833

water transport

7521540|8576117|8584435|9321919|11914159|12172703|12766090|14561230

TgeneAQP1

GO:0015670

carbon dioxide transport

12745312|16574458|19273840

TgeneAQP1

GO:0015696

ammonium transport

16574458|19273840

TgeneAQP1

GO:0015793

glycerol transport

7491270|8584435

TgeneAQP1

GO:0019725

cellular homeostasis

19268465

TgeneAQP1

GO:0030185

nitric oxide transport

16682607

TgeneAQP1

GO:0034644

cellular response to UV

19424603

TgeneAQP1

GO:0035377

transepithelial water transport

12766090

TgeneAQP1

GO:0035378

carbon dioxide transmembrane transport

17012249

TgeneAQP1

GO:0042493

response to drug

12172703

TgeneAQP1

GO:0043066

negative regulation of apoptotic process

16565507

TgeneAQP1

GO:0048146

positive regulation of fibroblast proliferation

16565507

TgeneAQP1

GO:0070301

cellular response to hydrogen peroxide

19424603

TgeneAQP1

GO:0071241

cellular response to inorganic substance

14561230

TgeneAQP1

GO:0071260

cellular response to mechanical stimulus

19268465

TgeneAQP1

GO:0071280

cellular response to copper ion

7491270|8584435

TgeneAQP1

GO:0071288

cellular response to mercury ion

7491270|8584435|9321919|12172703|12745312

TgeneAQP1

GO:0071300

cellular response to retinoic acid

12051745|19424603

TgeneAQP1

GO:0071320

cellular response to cAMP

18538351

TgeneAQP1

GO:0071456

cellular response to hypoxia

18275976

TgeneAQP1

GO:0071472

cellular response to salt stress

18509662

TgeneAQP1

GO:0071549

cellular response to dexamethasone stimulus

16711029

TgeneAQP1

GO:0071732

cellular response to nitric oxide

14561230


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1EB387289ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-intronENST00000249601ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000249601ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000249601ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000249601ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000249601ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000249601ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000249601ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374170ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374170ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000374170ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374170ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000374170ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374170ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374170ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374172ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374172ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000374172ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374172ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000374172ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374172ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000374172ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417247ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417247ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000417247ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417247ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000417247ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417247ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417247ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000435790ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000435790ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000435790ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000435790ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000435790ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000435790ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000435790ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417912ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417912ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000417912ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417912ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000417912ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417912ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000417912ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000491108ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000491108ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000491108ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000491108ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000491108ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000491108ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000491108ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000477708ENST00000434909ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000477708ENST00000509504ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000477708ENST00000311813ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000477708ENST00000482461ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-3UTRENST00000477708ENST00000441328ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000477708ENST00000409899ARHGAP22chr10

49700436

-AQP1chr7

30965008

+
intron-intronENST00000477708ENST00000409611ARHGAP22chr10

49700436

-AQP1chr7

30965008

+

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FusionProtFeatures for ARHGAP22_AQP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGAP22

Q7Z5H3

AQP1

P29972

Rho GTPase-activating protein involved in the signaltransduction pathway that regulates endothelial cell capillarytube formation during angiogenesis. Acts as a GTPase activator forthe RAC1 by converting it to an inactive GDP-bound state. InhibitsRAC1-dependent lamellipodia formation. May also play a role intranscription regulation via its interaction with VEZF1, byregulating activity of the endothelin-1 (EDN1) promoter (Bysimilarity). {ECO:0000250}. Forms a water-specific channel that provides the plasmamembranes of red cells and kidney proximal tubules with highpermeability to water, thereby permitting water to move in thedirection of an osmotic gradient. {ECO:0000269|PubMed:1373524}.

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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FusionGeneSequence for ARHGAP22_AQP1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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


Top

RelatedDrugs for ARHGAP22_AQP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneAQP1P29972DB09338MersalylAquaporin-1small moleculeapproved
TgeneAQP1P29972DB00819AcetazolamideAquaporin-1small moleculeapproved|vet_approved

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RelatedDiseases for ARHGAP22_AQP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAQP1C0008340Choledochal Cyst1CTD_human
TgeneAQP1C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneAQP1C0013608Edema, Cardiac1CTD_human
TgeneAQP1C0020538Hypertensive disease1CTD_human
TgeneAQP1C0020550Hyperthyroidism1CTD_human
TgeneAQP1C0024667Animal Mammary Neoplasms1CTD_human
TgeneAQP1C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneAQP1C0030193Pain1CTD_human
TgeneAQP1C0036095Salivary Gland Neoplasms1CTD_human
TgeneAQP1C0036983Septic Shock1CTD_human
TgeneAQP1C0085548Autosomal Recessive Polycystic Kidney Disease1CTD_human