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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: 2284

FusionGeneSummary for AQP1_TYK2

check button Fusion gene summary
Fusion gene informationFusion gene name: AQP1_TYK2
Fusion gene ID: 2284
HgeneTgene
Gene symbol

AQP1

TYK2

Gene ID

358

7297

Gene nameaquaporin 1 (Colton blood group)tyrosine kinase 2
SynonymsAQP-CHIP|CHIP28|COIMD35|JTK1
Cytomap

7p14.3

19p13.2

Type of geneprotein-codingprotein-coding
Descriptionaquaporin-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 kidnenon-receptor tyrosine-protein kinase TYK2
Modification date2018052320180522
UniProtAcc

P29972

P29597

Ensembl transtripts involved in fusion geneENST00000434909, ENST00000509504, 
ENST00000311813, ENST00000482461, 
ENST00000441328, ENST00000409899, 
ENST00000409611, 
ENST00000264818, 
ENST00000524462, ENST00000525621, 
ENST00000529370, ENST00000529422, 
Fusion gene scores* DoF score4 X 1 X 4=1642 X 7 X 17=4998
# samples 443
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(43/4998*10)=-3.53894233649724
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AQP1 [Title/Abstract] AND TYK2 [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
HgeneAQP1

GO:0003097

renal water transport

9096382

HgeneAQP1

GO:0006182

cGMP biosynthetic process

14561230

HgeneAQP1

GO:0006833

water transport

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

HgeneAQP1

GO:0015670

carbon dioxide transport

12745312|16574458|19273840

HgeneAQP1

GO:0015696

ammonium transport

16574458|19273840

HgeneAQP1

GO:0015793

glycerol transport

7491270|8584435

HgeneAQP1

GO:0019725

cellular homeostasis

19268465

HgeneAQP1

GO:0030185

nitric oxide transport

16682607

HgeneAQP1

GO:0034644

cellular response to UV

19424603

HgeneAQP1

GO:0035377

transepithelial water transport

12766090

HgeneAQP1

GO:0035378

carbon dioxide transmembrane transport

17012249

HgeneAQP1

GO:0042493

response to drug

12172703

HgeneAQP1

GO:0043066

negative regulation of apoptotic process

16565507

HgeneAQP1

GO:0048146

positive regulation of fibroblast proliferation

16565507

HgeneAQP1

GO:0070301

cellular response to hydrogen peroxide

19424603

HgeneAQP1

GO:0071241

cellular response to inorganic substance

14561230

HgeneAQP1

GO:0071260

cellular response to mechanical stimulus

19268465

HgeneAQP1

GO:0071280

cellular response to copper ion

7491270|8584435

HgeneAQP1

GO:0071288

cellular response to mercury ion

7491270|8584435|9321919|12172703|12745312

HgeneAQP1

GO:0071300

cellular response to retinoic acid

12051745|19424603

HgeneAQP1

GO:0071320

cellular response to cAMP

18538351

HgeneAQP1

GO:0071456

cellular response to hypoxia

18275976

HgeneAQP1

GO:0071472

cellular response to salt stress

18509662

HgeneAQP1

GO:0071549

cellular response to dexamethasone stimulus

16711029

HgeneAQP1

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
TCGARVBRCATCGA-A2-A3XY-01AAQP1chr7

30965131

+TYK2chr19

10491352

-
* 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-intronENST00000434909ENST00000264818AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000434909ENST00000524462AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000434909ENST00000525621AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000434909ENST00000529370AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000434909ENST00000529422AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000509504ENST00000264818AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000509504ENST00000524462AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000509504ENST00000525621AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000509504ENST00000529370AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000509504ENST00000529422AQP1chr7

30965131

+TYK2chr19

10491352

-
5CDS-intronENST00000311813ENST00000264818AQP1chr7

30965131

+TYK2chr19

10491352

-
5CDS-intronENST00000311813ENST00000524462AQP1chr7

30965131

+TYK2chr19

10491352

-
5CDS-intronENST00000311813ENST00000525621AQP1chr7

30965131

+TYK2chr19

10491352

-
5CDS-intronENST00000311813ENST00000529370AQP1chr7

30965131

+TYK2chr19

10491352

-
5CDS-intronENST00000311813ENST00000529422AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000482461ENST00000264818AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000482461ENST00000524462AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000482461ENST00000525621AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000482461ENST00000529370AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000482461ENST00000529422AQP1chr7

30965131

+TYK2chr19

10491352

-
5CDS-intronENST00000441328ENST00000264818AQP1chr7

30965131

+TYK2chr19

10491352

-
5CDS-intronENST00000441328ENST00000524462AQP1chr7

30965131

+TYK2chr19

10491352

-
5CDS-intronENST00000441328ENST00000525621AQP1chr7

30965131

+TYK2chr19

10491352

-
5CDS-intronENST00000441328ENST00000529370AQP1chr7

30965131

+TYK2chr19

10491352

-
5CDS-intronENST00000441328ENST00000529422AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000409899ENST00000264818AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000409899ENST00000524462AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000409899ENST00000525621AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000409899ENST00000529370AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000409899ENST00000529422AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000409611ENST00000264818AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000409611ENST00000524462AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000409611ENST00000525621AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000409611ENST00000529370AQP1chr7

30965131

+TYK2chr19

10491352

-
intron-intronENST00000409611ENST00000529422AQP1chr7

30965131

+TYK2chr19

10491352

-

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FusionProtFeatures for AQP1_TYK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AQP1

P29972

TYK2

P29597

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}. Probably involved in intracellular signal transductionby being involved in the initiation of type I IFN signaling.Phosphorylates the interferon-alpha/beta receptor alpha chain.{ECO:0000269|PubMed:7526154}.

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 AQP1_TYK2


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 AQP1_TYK2


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
AQP1MDFI, EFEMP2, KCTD17, KRTAP4-12, TRIP6, CCDC85B, ADAMTSL4, AQP1, TRIM23, FOS, KRT31, KRT33B, SIAH1, TCF4, TRAF1, TRAF2, RGS20, TNK2, SPRY2, MID2, IKZF3, IKZF2, MTUS2, RGS17, KCTD9, CRTAC1, CSRNP1, CCDC136, CEP44, KRTAP9-2, KRTAP4-2, RIMBP3, FSD2, KRT40, KIAA1958, CCDC57, NBPF22P, CCDC36, KRTAP10-7, KRTAP10-3, NOTCH2NL, CREB3, LMNATYK2GNB2L1, STAT1, PRMT5, XRCC5, VAV1, IFNAR1, CRKL, JAK1, TYK2, ELP2, IL13RA1, LYN, CBL, PTPN6, PLAUR, IL6ST, FYN, PTPN1, STAM2, GHR, IRS2, DNM2, TK1, SOCS1, KLF10, LNX1, PTAFR, EIF2AK2, HSP90AA1, JAK3, COPS5, FHL3, HNRNPK, TRAF4, KRT40, KHDRBS2, SIVA1, SHMT2, MOV10, NXF1, BAG2, CCT2, CCT3, CCT4, CCT5, CCT6A, CCT7, CCT8, DDX5, HNRNPH1, HSPB1, CEP170B, RAN, RUVBL1, RUVBL2, SLC2A1, TCP1, ALYREF, TRIM28, TUBA4A, WDR20, EFNB2, PIH1D1, TGFBR2, LRRC46, LPAR6, RNF13, ZNF333, MIER2, SIAH2, UBE2L6, LRP8, IFT43, PMEL, TNFRSF19, GMNN, IL4R, TMCO3, GPR156, CDH8, CD79A, TNFRSF13B, HAVCR2, PROSER2, LGALS3BP, C16orf71, MAS1, NLGN3


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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RelatedDrugs for AQP1_TYK2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneAQP1P29972DB09338MersalylAquaporin-1small moleculeapproved
HgeneAQP1P29972DB00819AcetazolamideAquaporin-1small moleculeapproved|vet_approved
TgeneTYK2P29597DB08895TofacitinibNon-receptor tyrosine-protein kinase TYK2small moleculeapproved|investigational

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RelatedDiseases for AQP1_TYK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAQP1C0008340Choledochal Cyst1CTD_human
HgeneAQP1C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneAQP1C0013608Edema, Cardiac1CTD_human
HgeneAQP1C0020538Hypertensive disease1CTD_human
HgeneAQP1C0020550Hyperthyroidism1CTD_human
HgeneAQP1C0024667Animal Mammary Neoplasms1CTD_human
HgeneAQP1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneAQP1C0030193Pain1CTD_human
HgeneAQP1C0036095Salivary Gland Neoplasms1CTD_human
HgeneAQP1C0036983Septic Shock1CTD_human
HgeneAQP1C0085548Autosomal Recessive Polycystic Kidney Disease1CTD_human
TgeneTYK2C0003873Rheumatoid Arthritis1CTD_human
TgeneTYK2C0010346Crohn Disease1CTD_human
TgeneTYK2C0023892Biliary cirrhosis1CTD_human
TgeneTYK2C0026769Multiple Sclerosis1CTD_human
TgeneTYK2C0033860Psoriasis1CTD_human
TgeneTYK2C0041696Unipolar Depression1PSYGENET
TgeneTYK2C0236736Cocaine-Related Disorders1CTD_human
TgeneTYK2C0344315Depressed mood1PSYGENET
TgeneTYK2C1269683Major Depressive Disorder1PSYGENET
TgeneTYK2C1456784Paranoia1CTD_human