FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 23969

FusionGeneSummary for NEDD4_GABRA5

check button Fusion gene summary
Fusion gene informationFusion gene name: NEDD4_GABRA5
Fusion gene ID: 23969
HgeneTgene
Gene symbol

NEDD4

GABRA5

Gene ID

4734

2558

Gene nameneural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligasegamma-aminobutyric acid type A receptor alpha5 subunit
SynonymsNEDD4-1|RPF1-
Cytomap

15q21.3

15q12

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase NEDD4HECT-type E3 ubiquitin transferase NEDD4cell proliferation-inducing gene 53 proteinreceptor-potentiating factor 1gamma-aminobutyric acid receptor subunit alpha-5GABA(A) receptor subunit alpha-5gamma-aminobutyric acid (GABA) A receptor, alpha 5
Modification date2018052720180523
UniProtAcc

P46934

P31644

Ensembl transtripts involved in fusion geneENST00000435532, ENST00000338963, 
ENST00000508342, ENST00000506154, 
ENST00000508075, 		ENST00000335625, 
ENST00000355395, ENST00000400081, 
ENST00000557449, 
Fusion gene scores* DoF score4 X 4 X 3=482 X 2 X 2=8
# samples 42
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

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

Functional or gene categories assigned by FusionGDB annotation
* 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

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 from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBLCATCGA-GD-A2C5-01ANEDD4chr15

56285709

-GABRA5chr15

27113876

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-5UTRENST00000435532ENST00000335625NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5CDS-intronENST00000435532ENST00000355395NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5CDS-5UTRENST00000435532ENST00000400081NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5CDS-3UTRENST00000435532ENST00000557449NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-5UTRENST00000338963ENST00000335625NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-intronENST00000338963ENST00000355395NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-5UTRENST00000338963ENST00000400081NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-3UTRENST00000338963ENST00000557449NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-5UTRENST00000508342ENST00000335625NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-intronENST00000508342ENST00000355395NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-5UTRENST00000508342ENST00000400081NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-3UTRENST00000508342ENST00000557449NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-5UTRENST00000506154ENST00000335625NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-intronENST00000506154ENST00000355395NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-5UTRENST00000506154ENST00000400081NEDD4chr15

56285709

-GABRA5chr15

27113876

+
intron-3UTRENST00000506154ENST00000557449NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5UTR-5UTRENST00000508075ENST00000335625NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5UTR-intronENST00000508075ENST00000355395NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5UTR-5UTRENST00000508075ENST00000400081NEDD4chr15

56285709

-GABRA5chr15

27113876

+
5UTR-3UTRENST00000508075ENST00000557449NEDD4chr15

56285709

-GABRA5chr15

27113876

+

Top

FusionProtFeatures for NEDD4_GABRA5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NEDD4

P46934

GABRA5

P31644

GABA, the major inhibitory neurotransmitter in thevertebrate brain, mediates neuronal inhibition by binding to theGABA/benzodiazepine receptor and opening an integral chloridechannel.

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


Top

FusionGeneSequence for NEDD4_GABRA5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI 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
NEDD4UBE2D2, CBLB, PMEPA1, NDFIP2, SGK1, IGF1R, UBE2D3, UBE2E1, UBE2L3, SCNN1A, SCNN1B, SCNN1G, HGS, N4BP3, CDC25C, SCAMP3, AP1G2, ARRB2, ARRB1, TTYH3, TTYH2, PTEN, NEDD4, ISG15, POLR2A, LAPTM5, GGA3, SLC6A3, PDCD6IP, GABARAP, GABARAPL1, GABARAPL2, MLANA, TP73, SMAD2, SMAD3, SMAD6, SMAD7, SMURF2, SKIL, SCN5A, NTRK1, CPSF6, UBAP2L, GRB10, GJA1, RAPGEF2, GRIA1, SLC12A3, FGFR1, DCUN1D1, SLC38A3, SCN8A, EPS15, SLC11A2, TNK2, TNIK, RAP2A, MTMR4, RNF11, ARRDC3, ADRB2, SLC9A1, RASGEF1A, UBOX5, RANBP10, CAMK1D, ABL2, MAPKAPK3, YY1, WBP2, RTF1, EGFR, ANKRD13D, TRIM52, TRIM44, BAIAP2, PLK2, CUEDC1, FLT1, RAD51AP1, SAMSN1, LUC7L2, CLIC2, CALCOCO1, FYN, MAP3K3, ABL1, CDK5, STK31, AKT1, MARK2, ERMN, SGK2, PRKX, MAP3K5, MAP3K2, TOM1L2, RPS6KB1, C11orf63, TOM1, MARK4, RPS6KA3, PDGFRB, SPANXN3, GBA, AKT3, DDX54, FGFR2, GRK7, SFTPC, CFTR, SNCA, PSMD4, SPRY2, SPRY1, UBC, ERBB4, ERG, KCNQ1, ARRDC1, TEAD2, SMAD1, AMPD2, BMPR1A, TSTA3, FGF12, FKBP3, KCNAB1, KCNAB2, MAP4K5, MOB3A, NHP2, NSRP1, RNF7, EBAG9, MRPL19, RASL11B, SAAL1, KIAA1598, SIVA1, SYT1, TCP11L1, TBC1D7, TCEANC, WIBG, YES1, ASPSCR1, HMCES, FGF21, RBCK1, IRS1, KIFC3, SP140L, PARP16, PRR16, RPAP3, SLC23A2, SEPT9, TAF1B, PRRG1, UBE2M, SRMS, CDK5R1, CAMK4, FES, PLK1, TBK1, STK24, STK25, STK26, RPS6KA4, RAF1, GRK4, WEE1, CLK3, EPHA5, STK4, AURKC, SYK, DYRK4, PKN2, PRKG2, FLT4, CAMKK2, SULF1, RFT1, MAP2, ANXA9, RAC1, DVL1, AMOT, SLC5A7, TSG101, JUN, KIF26B, LAPTM4A, LAPTM4B, RPSA, IL2RB, IL2RG, LITAF, BECN1, ANXA13, TRPV6, NFE2, LRRK1, MDM2, BRCA2, UBE2D1, DMD, MGRN1, FBXL15, SMAD5, PPARG, GRIN2D, GRIN2A, URI1, POLR2B, POLR2C, POLR2E, POLR3A, RUVBL1, SMARCC1, ARID1A, THRAP3, CPSF1, NUDT21, DDX3X, DHX30, RPAP2, HNRNPK, HNRNPL, HNRNPU, HNRNPUL1, PRPF8, SRSF7, EPRS, RPS3A, DIAPH1, AMOTL1, RAPGEF6, POLR2M, CAD, CUL1, BTRC, FBXL18, RBX1, SKP1, CSNK1D, ERBB3, CCNH, GUCD1, YOD1, SMO, PTCH1, CUL5, SRC, MYCN, LATS1, FAM189B, TMEM51, TMEM171, FAM189A2, WBP1, TMEM255A, TMEM92, TMEM52B, LDLRAD4, ABCB1, IMPDH2, PAX7, SAV1, LATS2, PDLIM7, GLIS3, HSF1, ABCG1, IRS2, IFITM3, NDFIP1, THOC1, SUV420H2, DDIT4, PTK2B, MAP1LC3B, ILDR1, OCLN, TNFRSF19, PRRG3, SUSD6, ERRFI1, PIP5K1C, SLC22A6GABRA5GABRA3


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


Top

RelatedDrugs for NEDD4_GABRA5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGABRA5P31644DB00546AdinazolamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved
TgeneGABRA5P31644DB00842OxazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved
TgeneGABRA5P31644DB00849MethylphenobarbitalGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved
TgeneGABRA5P31644DB00898EthanolGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved
TgeneGABRA5P31644DB01198ZopicloneGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved
TgeneGABRA5P31644DB01205FlumazenilGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved
TgeneGABRA5P31644DB01354HeptabarbitalGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved
TgeneGABRA5P31644DB01355HexobarbitalGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved
TgeneGABRA5P31644DB01594CinolazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved
TgeneGABRA5P31644DB01595NitrazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved
TgeneGABRA5P31644DB13872LormetazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved
TgeneGABRA5P31644DB00306TalbutalGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit
TgeneGABRA5P31644DB00371MeprobamateGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit
TgeneGABRA5P31644DB00683MidazolamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit
TgeneGABRA5P31644DB01215EstazolamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit
TgeneGABRA5P31644DB01351AmobarbitalGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit
TgeneGABRA5P31644DB01352AprobarbitalGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit
TgeneGABRA5P31644DB01353ButethalGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit
TgeneGABRA5P31644DB01544FlunitrazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit
TgeneGABRA5P31644DB01559ClotiazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit
TgeneGABRA5P31644DB01567FludiazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit
TgeneGABRA5P31644DB01588PrazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit
TgeneGABRA5P31644DB01589QuazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit
TgeneGABRA5P31644DB00690FlurazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit|investigational
TgeneGABRA5P31644DB01558BromazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit|investigational
TgeneGABRA5P31644DB00829DiazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit|investigational|vet_approved
TgeneGABRA5P31644DB00801HalazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|illicit|withdrawn
TgeneGABRA5P31644DB00231TemazepamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|investigational
TgeneGABRA5P31644DB00402EszopicloneGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|investigational
TgeneGABRA5P31644DB00897TriazolamGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|investigational
TgeneGABRA5P31644DB00312PentobarbitalGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|investigational|vet_approved
TgeneGABRA5P31644DB00418SecobarbitalGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|vet_approved
TgeneGABRA5P31644DB00599ThiopentalGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|vet_approved
TgeneGABRA5P31644DB00794PrimidoneGamma-aminobutyric acid receptor subunit alpha-5small moleculeapproved|vet_approved

Top

RelatedDiseases for NEDD4_GABRA5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNEDD4C0005586Bipolar Disorder1PSYGENET
HgeneNEDD4C0022548Keloid1CTD_human
HgeneNEDD4C0038325Stevens-Johnson Syndrome1CTD_human
HgeneNEDD4C0151744Myocardial Ischemia1CTD_human
TgeneGABRA5C0005586Bipolar Disorder5PSYGENET
TgeneGABRA5C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneGABRA5C0004352Autistic Disorder1CTD_human
TgeneGABRA5C0025261Memory Disorders1CTD_human
TgeneGABRA5C0036341Schizophrenia1PSYGENET
TgeneGABRA5C0036572Seizures1CTD_human
TgeneGABRA5C0525045Mood Disorders1PSYGENET
TgeneGABRA5C3711376Isodicentric Chromosome 15 Syndrome1CTD_human