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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:AQP1-SPTBN1 (FusionGDB2 ID:HG358TG6711)

Fusion Gene Summary for AQP1-SPTBN1

check button Fusion gene summary
Fusion gene informationFusion gene name: AQP1-SPTBN1
Fusion gene ID: hg358tg6711
HgeneTgene
Gene symbol

AQP1

SPTBN1

Gene ID

358

6711

Gene nameaquaporin 1 (Colton blood group)spectrin beta, non-erythrocytic 1
SynonymsAQP-CHIP|CHIP28|COELF|HEL102|SPTB2|betaSpII
Cytomap('AQP1')('SPTBN1')

7p14.3

2p16.2

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 kidnespectrin beta chain, non-erythrocytic 1beta-G spectrinbeta-II spectrinbeta-fodrinbeta-spectrin 2beta-spectrin IIbeta-spectrin non-erythrocytic 1embryonic liver beta-fodrinepididymis luminal protein 102fodrin beta chainspectrin beta chain, brain
Modification date2020032920200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000311813, ENST00000441328, 
ENST00000409611, ENST00000409899, 
ENST00000434909, ENST00000482461, 
ENST00000509504, 
Fusion gene scores* DoF score6 X 2 X 5=6021 X 22 X 8=3696
# samples 623
** MAII scorelog2(6/60*10)=0log2(23/3696*10)=-4.00625899047168
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AQP1 [Title/Abstract] AND SPTBN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAQP1(30964525)-SPTBN1(54720967), # samples:3
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
HgeneAQP1

GO:0003097

renal water transport

9096382

HgeneAQP1

GO:0006833

water transport

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

HgeneAQP1

GO:0009992

cellular water homeostasis

21251984

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:0019934

cGMP-mediated signaling

14561230

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 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/AAI535702AQP1chr7

30964525

+SPTBN1chr2

54720967

+
ChiTaRS5.0N/AAI535725AQP1chr7

30964525

+SPTBN1chr2

54720967

+
ChiTaRS5.0N/AAI535764AQP1chr7

30964525

+SPTBN1chr2

54720967

+


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Fusion Gene ORF analysis for AQP1-SPTBN1

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
3UTR-intronENST00000311813ENST00000333896AQP1chr7

30964525

+SPTBN1chr2

54720967

+
3UTR-intronENST00000311813ENST00000356805AQP1chr7

30964525

+SPTBN1chr2

54720967

+
3UTR-intronENST00000441328ENST00000333896AQP1chr7

30964525

+SPTBN1chr2

54720967

+
3UTR-intronENST00000441328ENST00000356805AQP1chr7

30964525

+SPTBN1chr2

54720967

+
intron-intronENST00000409611ENST00000333896AQP1chr7

30964525

+SPTBN1chr2

54720967

+
intron-intronENST00000409611ENST00000356805AQP1chr7

30964525

+SPTBN1chr2

54720967

+
intron-intronENST00000409899ENST00000333896AQP1chr7

30964525

+SPTBN1chr2

54720967

+
intron-intronENST00000409899ENST00000356805AQP1chr7

30964525

+SPTBN1chr2

54720967

+
intron-intronENST00000434909ENST00000333896AQP1chr7

30964525

+SPTBN1chr2

54720967

+
intron-intronENST00000434909ENST00000356805AQP1chr7

30964525

+SPTBN1chr2

54720967

+
intron-intronENST00000482461ENST00000333896AQP1chr7

30964525

+SPTBN1chr2

54720967

+
intron-intronENST00000482461ENST00000356805AQP1chr7

30964525

+SPTBN1chr2

54720967

+
intron-intronENST00000509504ENST00000333896AQP1chr7

30964525

+SPTBN1chr2

54720967

+
intron-intronENST00000509504ENST00000356805AQP1chr7

30964525

+SPTBN1chr2

54720967

+

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 AQP1-SPTBN1


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 AQP1-SPTBN1


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/:30964525/:54720967)
- 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
..
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}.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 AQP1-SPTBN1


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 AQP1-SPTBN1


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 AQP1-SPTBN1


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 AQP1-SPTBN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAQP1C0007097Carcinoma1CTD_human
HgeneAQP1C0008340Choledochal Cyst1CTD_human
HgeneAQP1C0009439Choledochal Cyst, Type I1CTD_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
HgeneAQP1C0036981Endotoxic shock1CTD_human
HgeneAQP1C0036983Septic Shock1CTD_human
HgeneAQP1C0085548Autosomal Recessive Polycystic Kidney Disease1CTD_human
HgeneAQP1C0205696Anaplastic carcinoma1CTD_human
HgeneAQP1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneAQP1C0205698Undifferentiated carcinoma1CTD_human
HgeneAQP1C0205699Carcinomatosis1CTD_human
HgeneAQP1C0220636Malignant neoplasm of salivary gland1CTD_human
HgeneAQP1C0234230Pain, Burning1CTD_human
HgeneAQP1C0234238Ache1CTD_human
HgeneAQP1C0234254Radiating pain1CTD_human
HgeneAQP1C0340543Familial primary pulmonary hypertension1GENOMICS_ENGLAND
HgeneAQP1C0458257Pain, Splitting1CTD_human
HgeneAQP1C0458259Pain, Crushing1CTD_human
HgeneAQP1C0600327Toxic Shock Syndrome1CTD_human
HgeneAQP1C0751407Pain, Migratory1CTD_human
HgeneAQP1C0751408Suffering, Physical1CTD_human
HgeneAQP1C11509292-oxo-hept-3-ene-1,7-dioate hydratase activity1GENOMICS_ENGLAND
HgeneAQP1C1257796Choledochal Cyst, Type II1CTD_human
HgeneAQP1C1257797Choledochal Cyst, Type III1CTD_human
HgeneAQP1C1257798Choledochal Cyst, Type IV1CTD_human
HgeneAQP1C1257799Choledochal Cyst, Type V1CTD_human
HgeneAQP1C1257925Mammary Carcinoma, Animal1CTD_human
HgeneAQP1C3714618Primary Hyperthyroidism1CTD_human
TgeneC0043094Weight Gain1CTD_human