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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:AQP2-FOXP1 (FusionGDB2 ID:HG359TG27086)

Fusion Gene Summary for AQP2-FOXP1

check button Fusion gene summary
Fusion gene informationFusion gene name: AQP2-FOXP1
Fusion gene ID: hg359tg27086
HgeneTgene
Gene symbol

AQP2

FOXP1

Gene ID

359

27086

Gene nameaquaporin 2forkhead box P1
SynonymsAQP-CD|WCH-CD12CC4|HSPC215|MFH|QRF1|hFKH1B
Cytomap('AQP2')('FOXP1')

12q13.12

3p13

Type of geneprotein-codingprotein-coding
Descriptionaquaporin-2ADH water channelAQP-2aquaporin 2 (collecting duct)aquaporin-CDcollecting duct water channel proteinwater channel protein for renal collecting ductwater-channel aquaporin 2forkhead box protein P1fork head-related protein like Bglutamine-rich factor 1mac-1-regulated forkhead
Modification date2020031320200329
UniProtAcc

P41181

.
Ensembl transtripts involved in fusion geneENST00000199280, 
Fusion gene scores* DoF score1 X 1 X 1=147 X 26 X 20=24440
# samples 152
** MAII scorelog2(1/1*10)=3.32192809488736log2(52/24440*10)=-5.55458885167764
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AQP2 [Title/Abstract] AND FOXP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAQP2(50352664)-FOXP1(71007472), # 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
HgeneAQP2

GO:0006833

water transport

8584435|9321919

HgeneAQP2

GO:0015793

glycerol transport

8584435

HgeneAQP2

GO:0051289

protein homotetramerization

24733887

HgeneAQP2

GO:0071280

cellular response to copper ion

8584435

HgeneAQP2

GO:0071288

cellular response to mercury ion

8584435

TgeneFOXP1

GO:0002903

negative regulation of B cell apoptotic process

25267198

TgeneFOXP1

GO:0010629

negative regulation of gene expression

30111844

TgeneFOXP1

GO:0030316

osteoclast differentiation

18799727

TgeneFOXP1

GO:0032496

response to lipopolysaccharide

18799727

TgeneFOXP1

GO:0032680

regulation of tumor necrosis factor production

18799727

TgeneFOXP1

GO:0035926

chemokine (C-C motif) ligand 2 secretion

18799727

TgeneFOXP1

GO:0036035

osteoclast development

18799727

TgeneFOXP1

GO:0042116

macrophage activation

18799727

TgeneFOXP1

GO:0042117

monocyte activation

18799727

TgeneFOXP1

GO:0045655

regulation of monocyte differentiation

15286807

TgeneFOXP1

GO:0045892

negative regulation of transcription, DNA-templated

20950788

TgeneFOXP1

GO:0050706

regulation of interleukin-1 beta secretion

18799727

TgeneFOXP1

GO:0050727

regulation of inflammatory response

18799727

TgeneFOXP1

GO:0060766

negative regulation of androgen receptor signaling pathway

18640093

TgeneFOXP1

GO:1900424

regulation of defense response to bacterium

18799727

TgeneFOXP1

GO:1901256

regulation of macrophage colony-stimulating factor production

18799727

TgeneFOXP1

GO:2001182

regulation of interleukin-12 secretion

18799727



check button Fusion gene information
* 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
ChimerDB4KIRCTCGA-B0-5691-01AAQP2chr12

50352664

-FOXP1chr3

71007472

-


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Fusion Gene ORF analysis for AQP2-FOXP1

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
5CDS-3UTRENST00000199280ENST00000318789AQP2chr12

50352664

-FOXP1chr3

71007472

-
5CDS-3UTRENST00000199280ENST00000475937AQP2chr12

50352664

-FOXP1chr3

71007472

-
5CDS-intronENST00000199280ENST00000318779AQP2chr12

50352664

-FOXP1chr3

71007472

-
5CDS-intronENST00000199280ENST00000468577AQP2chr12

50352664

-FOXP1chr3

71007472

-
5CDS-intronENST00000199280ENST00000472382AQP2chr12

50352664

-FOXP1chr3

71007472

-
5CDS-intronENST00000199280ENST00000484350AQP2chr12

50352664

-FOXP1chr3

71007472

-
5CDS-intronENST00000199280ENST00000491238AQP2chr12

50352664

-FOXP1chr3

71007472

-
5CDS-intronENST00000199280ENST00000493089AQP2chr12

50352664

-FOXP1chr3

71007472

-
5CDS-intronENST00000199280ENST00000498215AQP2chr12

50352664

-FOXP1chr3

71007472

-

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 AQP2-FOXP1


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)


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Fusion Protein Features for AQP2-FOXP1


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/:50352664/:71007472)
- 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
AQP2

P41181

.
FUNCTION: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (PubMed:8140421, PubMed:7524315, PubMed:7510718, PubMed:15509592). Plays an essential role in renal water homeostasis (PubMed:8140421, PubMed:7524315, PubMed:15509592). {ECO:0000269|PubMed:15509592, ECO:0000269|PubMed:7510718, ECO:0000269|PubMed:7524315, ECO:0000269|PubMed:8140421}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 AQP2-FOXP1


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 AQP2-FOXP1


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 AQP2-FOXP1


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 AQP2-FOXP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAQP2C1563706Nephrogenic Diabetes Insipidus, Type II23CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneAQP2C0162283Nephrogenic Diabetes Insipidus5CTD_human;GENOMICS_ENGLAND
HgeneAQP2C0268443Acquired Nephrogenic Diabetes Insipidus4CTD_human
HgeneAQP2C0677501Congenital Nephrogenic Diabetes Insipidus4CTD_human
HgeneAQP2C1563705Nephrogenic Diabetes Insipidus, Type I4CTD_human
HgeneAQP2C3542500ADH-Resistant Diabetes Insipidus4CTD_human
HgeneAQP2C0033141Cardiomyopathies, Primary1CTD_human
HgeneAQP2C0036529Myocardial Diseases, Secondary1CTD_human
HgeneAQP2C0878544Cardiomyopathies1CTD_human
TgeneC3150923MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES16CLINGEN;GENOMICS_ENGLAND
TgeneC4013764MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0006413Burkitt Lymphoma1ORPHANET
TgeneC0024232Lymphatic Metastasis1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0030297Pancreatic Neoplasm1CTD_human
TgeneC0042900Vitiligo1CTD_human
TgeneC0087031Juvenile-Onset Still Disease1CTD_human
TgeneC0242647Mucosa-Associated Lymphoid Tissue Lymphoma1ORPHANET
TgeneC0279628Adenocarcinoma Of Esophagus1CTD_human
TgeneC0346647Malignant neoplasm of pancreas1CTD_human
TgeneC1292769Precursor B-cell lymphoblastic leukemia1ORPHANET
TgeneC1510586Autism Spectrum Disorders1CTD_human
TgeneC1535926Neurodevelopmental Disorders1CTD_human
TgeneC3495559Juvenile arthritis1CTD_human
TgeneC3714758Juvenile psoriatic arthritis1CTD_human
TgeneC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human