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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:DTNA-AQP4 (FusionGDB2 ID:HG1837TG361)

Fusion Gene Summary for DTNA-AQP4

check button Fusion gene summary
Fusion gene informationFusion gene name: DTNA-AQP4
Fusion gene ID: hg1837tg361
HgeneTgene
Gene symbol

DTNA

AQP4

Gene ID

1837

361

Gene namedystrobrevin alphaaquaporin 4
SynonymsD18S892E|DRP3|DTN|DTN-A|LVNC1MIWC|WCH4
Cytomap('DTNA')('AQP4')

18q12.1

18q11.2

Type of geneprotein-codingprotein-coding
Descriptiondystrobrevin alphadystrophin-related protein 3aquaporin-4aquaporin type4mercurial-insensitive water channel
Modification date2020031320200329
UniProtAcc.

P55087

Ensembl transtripts involved in fusion geneENST00000283365, ENST00000315456, 
ENST00000596745, ENST00000269190, 
ENST00000269191, ENST00000269192, 
ENST00000348997, ENST00000399097, 
ENST00000399113, ENST00000399121, 
ENST00000444659, ENST00000554864, 
ENST00000556414, ENST00000590831, 
ENST00000591182, ENST00000592449, 
ENST00000595022, ENST00000597599, 
ENST00000597674, ENST00000598142, 
ENST00000598334, ENST00000598774, 
ENST00000599844, ENST00000601125, 
Fusion gene scores* DoF score7 X 5 X 5=1755 X 3 X 4=60
# samples 76
** MAII scorelog2(7/175*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/60*10)=0
Context

PubMed: DTNA [Title/Abstract] AND AQP4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDTNA(32073478)-AQP4(24442560), # 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
TgeneAQP4

GO:0006833

water transport

8601457|19383790

TgeneAQP4

GO:0051289

protein homotetramerization

19383790

TgeneAQP4

GO:0071346

cellular response to interferon-gamma

17645239



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
ChimerDB4LIHCTCGA-FV-A3I0-01ADTNAchr18

32073478

-AQP4chr18

24442560

-
ChimerDB4LIHCTCGA-FV-A3I0-01ADTNAchr18

32073478

+AQP4chr18

24442560

-


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Fusion Gene ORF analysis for DTNA-AQP4

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
5UTR-3CDSENST00000283365ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
5UTR-3CDSENST00000315456ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
5UTR-3CDSENST00000596745ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
5UTR-5UTRENST00000283365ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
5UTR-5UTRENST00000283365ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
5UTR-5UTRENST00000315456ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
5UTR-5UTRENST00000315456ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
5UTR-5UTRENST00000596745ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
5UTR-5UTRENST00000596745ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
5UTR-intronENST00000283365ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
5UTR-intronENST00000315456ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
5UTR-intronENST00000596745ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000269190ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000269191ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000269192ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000348997ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000399097ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000399113ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000399121ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000444659ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000554864ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000556414ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000590831ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000591182ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000592449ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000595022ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000597599ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000597674ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000598142ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000598334ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000598774ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000599844ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-3CDSENST00000601125ENST00000383168DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000269190ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000269190ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000269191ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000269191ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000269192ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000269192ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000348997ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000348997ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000399097ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000399097ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000399113ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000399113ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000399121ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000399121ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000444659ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000444659ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000554864ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000554864ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000556414ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000556414ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000590831ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000590831ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000591182ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000591182ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000592449ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000592449ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000595022ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000595022ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000597599ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000597599ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000597674ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000597674ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000598142ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000598142ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000598334ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000598334ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000598774ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000598774ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000599844ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000599844ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000601125ENST00000440832DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-5UTRENST00000601125ENST00000581374DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000269190ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000269191ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000269192ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000348997ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000399097ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000399113ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000399121ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000444659ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000554864ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000556414ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000590831ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000591182ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000592449ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000595022ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000597599ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000597674ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000598142ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000598334ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000598774ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000599844ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-
intron-intronENST00000601125ENST00000583022DTNAchr18

32073478

+AQP4chr18

24442560

-

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 DTNA-AQP4


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 DTNA-AQP4


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/:32073478/:24442560)
- 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
.AQP4

P55087

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: Forms a water-specific channel (PubMed:7559426, PubMed:8601457, PubMed:19383790). Plays an important role in brain water homeostasis and in glymphatic solute transport. Required for a normal rate of water exchange across the blood brain interface. Required for normal levels of cerebrospinal fluid influx into the brain cortex and parenchyma along paravascular spaces that surround penetrating arteries, and for normal drainage of interstitial fluid along paravenous drainage pathways. Thereby, it is required for normal clearance of solutes from the brain interstitial fluid, including soluble beta-amyloid peptides derived from APP. Plays a redundant role in urinary water homeostasis and urinary concentrating ability (By similarity). {ECO:0000250|UniProtKB:P55088, ECO:0000269|PubMed:19383790, ECO:0000269|PubMed:7559426, ECO:0000269|PubMed:8601457}.

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 DTNA-AQP4


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 DTNA-AQP4


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 DTNA-AQP4


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 DTNA-AQP4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDTNAC0025281Meniere Disease1GENOMICS_ENGLAND
HgeneDTNAC1858725NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 11CTD_human;UNIPROT
HgeneDTNAC1960469Left ventricular noncompaction1ORPHANET
TgeneC0011570Mental Depression2PSYGENET
TgeneC0027873Neuromyelitis Optica2CTD_human
TgeneC0036341Schizophrenia2PSYGENET
TgeneC0338715Drug-induced depressive state2PSYGENET
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0011581Depressive disorder1PSYGENET
TgeneC0038220Status Epilepticus1CTD_human
TgeneC0038644Sudden infant death syndrome1GENOMICS_ENGLAND
TgeneC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneC0270823Petit mal status1CTD_human
TgeneC0311335Grand Mal Status Epilepticus1CTD_human
TgeneC0393734Complex Partial Status Epilepticus1CTD_human
TgeneC0751522Status Epilepticus, Subclinical1CTD_human
TgeneC0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneC0751524Simple Partial Status Epilepticus1CTD_human