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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:NEDD4-GABRA5 (FusionGDB2 ID:HG4734TG2558)

Fusion Gene Summary for NEDD4-GABRA5

check button Fusion gene summary
Fusion gene informationFusion gene name: NEDD4-GABRA5
Fusion gene ID: hg4734tg2558
HgeneTgene
Gene symbol

NEDD4

GABRA5

Gene ID

4734

2558

Gene nameNEDD4 E3 ubiquitin protein ligasegamma-aminobutyric acid type A receptor subunit alpha5
SynonymsNEDD4-1|RPF1EIEE79
Cytomap('NEDD4')('GABRA5')

15q21.3

15q12

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase NEDD4HECT-type E3 ubiquitin transferase NEDD4cell proliferation-inducing gene 53 proteinneural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligasereceptor-potentiating factor 1gamma-aminobutyric acid receptor subunit alpha-5GABA(A) receptor subunit alpha-5gamma-aminobutyric acid (GABA) A receptor, alpha 5gamma-aminobutyric acid type A receptor alpha5 subunit
Modification date2020031320200313
UniProtAcc.

P31644

Ensembl transtripts involved in fusion geneENST00000435532, ENST00000508075, 
ENST00000338963, ENST00000506154, 
ENST00000508342, 
Fusion gene scores* DoF score6 X 6 X 3=1083 X 4 X 3=36
# samples 64
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NEDD4 [Title/Abstract] AND GABRA5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNEDD4(56285709)-GABRA5(27113876), # 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
HgeneNEDD4

GO:0006511

ubiquitin-dependent protein catabolic process

20086093|26263374

HgeneNEDD4

GO:0006622

protein targeting to lysosome

17116753

HgeneNEDD4

GO:0007041

lysosomal transport

18544533

HgeneNEDD4

GO:0010766

negative regulation of sodium ion transport

10642508

HgeneNEDD4

GO:0016567

protein ubiquitination

17996703|18305167|25631046|26280536

HgeneNEDD4

GO:0031623

receptor internalization

18544533

HgeneNEDD4

GO:0032801

receptor catabolic process

18544533

HgeneNEDD4

GO:0034765

regulation of ion transmembrane transport

17289006

HgeneNEDD4

GO:0042391

regulation of membrane potential

17289006

HgeneNEDD4

GO:0042921

glucocorticoid receptor signaling pathway

8649367

HgeneNEDD4

GO:0045732

positive regulation of protein catabolic process

14973438

HgeneNEDD4

GO:0046824

positive regulation of nucleocytoplasmic transport

17218261

HgeneNEDD4

GO:0050847

progesterone receptor signaling pathway

8649367

HgeneNEDD4

GO:1901016

regulation of potassium ion transmembrane transporter activity

17289006

HgeneNEDD4

GO:2000650

negative regulation of sodium ion transmembrane transporter activity

10642508



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
ChimerDB4BLCATCGA-GD-A2C5-01ANEDD4chr15

56285709

-GABRA5chr15

27113876

+


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Fusion Gene ORF analysis for NEDD4-GABRA5

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-3UTRENST00000435532ENST00000557449NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5CDS-5UTRENST00000435532ENST00000335625NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5CDS-5UTRENST00000435532ENST00000400081NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5CDS-intronENST00000435532ENST00000355395NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5UTR-3UTRENST00000508075ENST00000557449NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5UTR-5UTRENST00000508075ENST00000335625NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5UTR-5UTRENST00000508075ENST00000400081NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5UTR-intronENST00000508075ENST00000355395NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-3UTRENST00000338963ENST00000557449NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-3UTRENST00000506154ENST00000557449NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-3UTRENST00000508342ENST00000557449NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-5UTRENST00000338963ENST00000335625NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-5UTRENST00000338963ENST00000400081NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-5UTRENST00000506154ENST00000335625NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-5UTRENST00000506154ENST00000400081NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-5UTRENST00000508342ENST00000335625NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-5UTRENST00000508342ENST00000400081NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-intronENST00000338963ENST00000355395NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-intronENST00000506154ENST00000355395NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-intronENST00000508342ENST00000355395NEDD4chr15

56285709

-GABRA5chr15

27113876

+

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 NEDD4-GABRA5


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)
NEDD4chr1556285708-GABRA5chr1527113875+0.098771160.9012288
NEDD4chr1556285708-GABRA5chr1527113875+0.098771160.9012288


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.
genomic feature of top 1%

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Fusion Protein Features for NEDD4-GABRA5


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/:56285709/:27113876)
- 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
.GABRA5

P31644

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: Ligand-gated chloride channel subunit which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:29961870, PubMed:31056671). May be involved in GABA-A receptor assembly, and GABA-A receptor immobilization and accumulation by gephyrin at the synapse (PubMed:31056671). {ECO:0000269|PubMed:29961870, ECO:0000269|PubMed:31056671}.

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 NEDD4-GABRA5


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 NEDD4-GABRA5


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 NEDD4-GABRA5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGABRA5P31644DB00395CarisoprodolModulatorSmall moleculeApproved
TgeneGABRA5P31644DB00849MethylphenobarbitalPotentiatorSmall moleculeApproved
TgeneGABRA5P31644DB00898EthanolSmall moleculeApproved
TgeneGABRA5P31644DB01198ZopiclonePotentiatorSmall moleculeApproved
TgeneGABRA5P31644DB01205FlumazenilAntagonistSmall moleculeApproved
TgeneGABRA5P31644DB00241ButalbitalPotentiatorSmall moleculeApproved|Illicit
TgeneGABRA5P31644DB00306TalbutalPotentiatorSmall moleculeApproved|Illicit
TgeneGABRA5P31644DB00371MeprobamateAgonistSmall moleculeApproved|Illicit
TgeneGABRA5P31644DB01351AmobarbitalPotentiatorSmall moleculeApproved|Illicit
TgeneGABRA5P31644DB01353ButobarbitalPotentiatorSmall moleculeApproved|Illicit
TgeneGABRA5P31644DB00402EszopicloneAgonistSmall moleculeApproved|Investigational
TgeneGABRA5P31644DB00312PentobarbitalPotentiatorSmall moleculeApproved|Investigational|Vet_approved
TgeneGABRA5P31644DB00418SecobarbitalPotentiatorSmall moleculeApproved|Vet_approved
TgeneGABRA5P31644DB00599ThiopentalPotentiatorSmall moleculeApproved|Vet_approved
TgeneGABRA5P31644DB00794PrimidonePotentiatorSmall moleculeApproved|Vet_approved

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Related Diseases for NEDD4-GABRA5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNEDD4C0005586Bipolar Disorder1PSYGENET
HgeneNEDD4C0014518Toxic Epidermal Necrolysis1CTD_human
HgeneNEDD4C0022548Keloid1CTD_human
HgeneNEDD4C0038325Stevens-Johnson Syndrome1CTD_human
HgeneNEDD4C0151744Myocardial Ischemia1CTD_human
HgeneNEDD4C1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
HgeneNEDD4C3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
HgeneNEDD4C3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human
TgeneC0005586Bipolar Disorder5PSYGENET
TgeneC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0022333Jacksonian Seizure1CTD_human
TgeneC0025261Memory Disorders1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0036572Seizures1CTD_human
TgeneC0149958Complex partial seizures1CTD_human
TgeneC0150080Social Communication Disorder1CTD_human
TgeneC0233794Memory impairment1CTD_human
TgeneC0234533Generalized seizures1CTD_human
TgeneC0234535Clonic Seizures1CTD_human
TgeneC0270824Visual seizure1CTD_human
TgeneC0270844Tonic Seizures1CTD_human
TgeneC0270846Epileptic drop attack1CTD_human
TgeneC0422850Seizures, Somatosensory1CTD_human
TgeneC0422852Seizures, Auditory1CTD_human
TgeneC0422853Olfactory seizure1CTD_human
TgeneC0422854Gustatory seizure1CTD_human
TgeneC0422855Vertiginous seizure1CTD_human
TgeneC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneC0494475Tonic - clonic seizures1CTD_human
TgeneC0525045Mood Disorders1PSYGENET
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC0751056Non-epileptic convulsion1CTD_human
TgeneC0751110Single Seizure1CTD_human
TgeneC0751123Atonic Absence Seizures1CTD_human
TgeneC0751292Age-Related Memory Disorders1CTD_human
TgeneC0751293Memory Disorder, Semantic1CTD_human
TgeneC0751294Memory Disorder, Spatial1CTD_human
TgeneC0751295Memory Loss1CTD_human
TgeneC0751494Convulsive Seizures1CTD_human
TgeneC0751495Seizures, Focal1CTD_human
TgeneC0751496Seizures, Sensory1CTD_human
TgeneC1510586Autism Spectrum Disorders1CTD_human
TgeneC3495874Nonepileptic Seizures1CTD_human
TgeneC3711376Isodicentric Chromosome 15 Syndrome1CTD_human
TgeneC4048158Convulsions1CTD_human
TgeneC4316903Absence Seizures1CTD_human
TgeneC4317109Epileptic Seizures1CTD_human
TgeneC4317123Myoclonic Seizures1CTD_human
TgeneC4505436Generalized Absence Seizures1CTD_human