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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:AVPR2-HUWE1 (FusionGDB2 ID:8627)

Fusion Gene Summary for AVPR2-HUWE1

check button Fusion gene summary
Fusion gene informationFusion gene name: AVPR2-HUWE1
Fusion gene ID: 8627
HgeneTgene
Gene symbol

AVPR2

HUWE1

Gene ID

554

10075

Gene namearginine vasopressin receptor 2HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
SynonymsADHR|DI1|DIR|DIR3|NDI|V2RARF-BP1|HECTH9|HSPC272|Ib772|LASU1|MRXST|MULE|URE-B1|UREB1
Cytomap

Xq28

Xp11.22

Type of geneprotein-codingprotein-coding
Descriptionvasopressin V2 receptorAVPR V2antidiuretic hormone receptorrenal-type arginine vasopressin receptorE3 ubiquitin-protein ligase HUWE1ARF-binding protein 1BJ-HCC-24 tumor antigenHECT domain protein LASU1HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligaseHECT-type E3 ubiquitin transferase HUWE1Mcl-1 ubiquitin ligase E3URE-binding pro
Modification date2020031320200313
UniProtAcc

P30518

Q7Z6Z7

Ensembl transtripts involved in fusion geneENST00000358927, ENST00000337474, 
ENST00000370049, 		ENST00000342160, 
ENST00000262854, ENST00000474288, 
ENST00000218328, 
Fusion gene scores* DoF score1 X 1 X 1=111 X 14 X 5=770
# samples 115
** MAII scorelog2(1/1*10)=3.32192809488736log2(15/770*10)=-2.35989594508638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AVPR2 [Title/Abstract] AND HUWE1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAVPR2(153168346)-HUWE1(53565415), # 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
HgeneAVPR2

GO:0008285

negative regulation of cell proliferation

9322919

TgeneHUWE1

GO:0000209

protein polyubiquitination

15989957

TgeneHUWE1

GO:0006513

protein monoubiquitination

19713937

TgeneHUWE1

GO:0016574

histone ubiquitination

15767685

TgeneHUWE1

GO:0031398

positive regulation of protein ubiquitination

20534529

TgeneHUWE1

GO:0098779

positive regulation of mitophagy in response to mitochondrial depolarization

30217973


check buttonFusion gene breakpoints across AVPR2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across HUWE1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4OVTCGA-25-1316AVPR2chrX

153168346

+HUWE1chrX

53565415

-


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Fusion Gene ORF analysis for AVPR2-HUWE1

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-3CDSENST00000358927ENST00000342160AVPR2chrX

153168346

+HUWE1chrX

53565415

-
intron-3CDSENST00000358927ENST00000262854AVPR2chrX

153168346

+HUWE1chrX

53565415

-
intron-intronENST00000358927ENST00000474288AVPR2chrX

153168346

+HUWE1chrX

53565415

-
intron-intronENST00000358927ENST00000218328AVPR2chrX

153168346

+HUWE1chrX

53565415

-
intron-3CDSENST00000337474ENST00000342160AVPR2chrX

153168346

+HUWE1chrX

53565415

-
intron-3CDSENST00000337474ENST00000262854AVPR2chrX

153168346

+HUWE1chrX

53565415

-
intron-intronENST00000337474ENST00000474288AVPR2chrX

153168346

+HUWE1chrX

53565415

-
intron-intronENST00000337474ENST00000218328AVPR2chrX

153168346

+HUWE1chrX

53565415

-
intron-3CDSENST00000370049ENST00000342160AVPR2chrX

153168346

+HUWE1chrX

53565415

-
intron-3CDSENST00000370049ENST00000262854AVPR2chrX

153168346

+HUWE1chrX

53565415

-
intron-intronENST00000370049ENST00000474288AVPR2chrX

153168346

+HUWE1chrX

53565415

-
intron-intronENST00000370049ENST00000218328AVPR2chrX

153168346

+HUWE1chrX

53565415

-

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 AVPR2-HUWE1


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for AVPR2-HUWE1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AVPR2

P30518

HUWE1

Q7Z6Z7

FUNCTION: Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption. {ECO:0000269|PubMed:19440390}.FUNCTION: E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15989957, PubMed:19713937, PubMed:15567145, PubMed:15767685, PubMed:18488021, PubMed:17567951, PubMed:19037095, PubMed:20534529). Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1 (PubMed:15989957). Mediates monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair (PubMed:19713937). Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4 (PubMed:15567145, PubMed:15767685, PubMed:15989956). Ubiquitinates MFN2 to negatively regulate mitochondrial fusion in response to decreased stearoylation of TFRC (PubMed:26214738). Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN (PubMed:18488021). May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation (PubMed:17567951). Mediates polyubiquitination of isoform 2 of PA2G4 (PubMed:19037095). Acts in concert with MYCBP2 to regulate the circadian clock gene expression by promoting the lithium-induced ubiquination and degradation of NR1D1 (PubMed:20534529). {ECO:0000269|PubMed:15567145, ECO:0000269|PubMed:15767685, ECO:0000269|PubMed:15989956, ECO:0000269|PubMed:15989957, ECO:0000269|PubMed:17567951, ECO:0000269|PubMed:18488021, ECO:0000269|PubMed:19037095, ECO:0000269|PubMed:19713937, ECO:0000269|PubMed:20534529, ECO:0000269|PubMed:26214738}.

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 AVPR2-HUWE1


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 AVPR2-HUWE1


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 AVPR2-HUWE1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneAVPR2P30518DB00035DesmopressinAgonistSmall moleculeApproved
HgeneAVPR2P30518DB00035DesmopressinAgonistSmall moleculeApproved
HgeneAVPR2P30518DB00035DesmopressinAgonistSmall moleculeApproved
HgeneAVPR2P30518DB00035DesmopressinAgonistSmall moleculeApproved
HgeneAVPR2P30518DB00035DesmopressinAgonistSmall moleculeApproved
HgeneAVPR2P30518DB00067VasopressinAgonistSmall moleculeApproved
HgeneAVPR2P30518DB00067VasopressinAgonistSmall moleculeApproved
HgeneAVPR2P30518DB00067VasopressinAgonistSmall moleculeApproved
HgeneAVPR2P30518DB00067VasopressinAgonistSmall moleculeApproved
HgeneAVPR2P30518DB00067VasopressinAgonistSmall moleculeApproved
HgeneAVPR2P30518DB00618DemeclocyclineInhibitorSmall moleculeApproved
HgeneAVPR2P30518DB00618DemeclocyclineInhibitorSmall moleculeApproved
HgeneAVPR2P30518DB00618DemeclocyclineInhibitorSmall moleculeApproved
HgeneAVPR2P30518DB00618DemeclocyclineInhibitorSmall moleculeApproved
HgeneAVPR2P30518DB00618DemeclocyclineInhibitorSmall moleculeApproved
HgeneAVPR2P30518DB06212TolvaptanAntagonistSmall moleculeApproved
HgeneAVPR2P30518DB06212TolvaptanAntagonistSmall moleculeApproved
HgeneAVPR2P30518DB06212TolvaptanAntagonistSmall moleculeApproved
HgeneAVPR2P30518DB06212TolvaptanAntagonistSmall moleculeApproved
HgeneAVPR2P30518DB06212TolvaptanAntagonistSmall moleculeApproved
HgeneAVPR2P30518DB14642LypressinSmall moleculeApproved
HgeneAVPR2P30518DB14642LypressinSmall moleculeApproved
HgeneAVPR2P30518DB14642LypressinSmall moleculeApproved
HgeneAVPR2P30518DB14642LypressinSmall moleculeApproved
HgeneAVPR2P30518DB14642LypressinSmall moleculeApproved
HgeneAVPR2P30518DB00872ConivaptanAntagonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB00872ConivaptanAntagonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB00872ConivaptanAntagonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB00872ConivaptanAntagonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB00872ConivaptanAntagonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB02638TerlipressinAgonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB02638TerlipressinAgonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB02638TerlipressinAgonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB02638TerlipressinAgonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB02638TerlipressinAgonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB09059AtosibanAntagonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB09059AtosibanAntagonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB09059AtosibanAntagonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB09059AtosibanAntagonistSmall moleculeApproved|Investigational
HgeneAVPR2P30518DB09059AtosibanAntagonistSmall moleculeApproved|Investigational

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Related Diseases for AVPR2-HUWE1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAVPR2C1563705Nephrogenic Diabetes Insipidus, Type I30CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneAVPR2C0162283Nephrogenic Diabetes Insipidus6CTD_human;GENOMICS_ENGLAND
HgeneAVPR2C0268443Acquired Nephrogenic Diabetes Insipidus5CTD_human
HgeneAVPR2C0677501Congenital Nephrogenic Diabetes Insipidus5CTD_human
HgeneAVPR2C1563706Nephrogenic Diabetes Insipidus, Type II5CTD_human
HgeneAVPR2C3542500ADH-Resistant Diabetes Insipidus5CTD_human
HgeneAVPR2C1845202Nephrogenic Syndrome of Inappropriate Antidiuresis3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneAVPR2C0001627Congenital adrenal hyperplasia1CTD_human
HgeneAVPR2C0018273Growth Disorders1CTD_human
HgeneAVPR2C0018801Heart failure1CTD_human
HgeneAVPR2C0018802Congestive heart failure1CTD_human
HgeneAVPR2C0023212Left-Sided Heart Failure1CTD_human
HgeneAVPR2C0028961Oliguria1CTD_human
HgeneAVPR2C0033141Cardiomyopathies, Primary1CTD_human
HgeneAVPR2C0036529Myocardial Diseases, Secondary1CTD_human
HgeneAVPR2C0235527Heart Failure, Right-Sided1CTD_human
HgeneAVPR2C0878544Cardiomyopathies1CTD_human
HgeneAVPR2C1959583Myocardial Failure1CTD_human
HgeneAVPR2C1961112Heart Decompensation1CTD_human
TgeneHUWE1C3501611Mental Retardation, X-Linked Nonsyndromic15CLINGEN
TgeneHUWE1C2678046Mental Retardation, X-Linked, Syndromic, Turner Type1CTD_human;GENOMICS_ENGLAND;ORPHANET