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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 14242

FusionGeneSummary for GABRE_JUP

check button Fusion gene summary
Fusion gene informationFusion gene name: GABRE_JUP
Fusion gene ID: 14242
HgeneTgene
Gene symbol

GABRE

JUP

Gene ID

2564

3728

Gene namegamma-aminobutyric acid type A receptor epsilon subunitjunction plakoglobin
Synonyms-CTNNG|DP3|DPIII|PDGB|PKGB
Cytomap

Xq28

17q21.2

Type of geneprotein-codingprotein-coding
Descriptiongamma-aminobutyric acid receptor subunit epsilonGABA(A) receptor subunit epsilonGABA(A) receptor, epsilongamma-aminobutyric acid (GABA) A receptor, epsilonjunction plakoglobincatenin (cadherin-associated protein), gamma 80kDadesmoplakin IIIdesmoplakin-3
Modification date2018052320180523
UniProtAcc

P78334

P14923

Ensembl transtripts involved in fusion geneENST00000370328, ENST00000370325, 
ENST00000393914, ENST00000483564, 
ENST00000540235, ENST00000393930, 
ENST00000393931, ENST00000310706, 
Fusion gene scores* DoF score5 X 7 X 2=7021 X 22 X 8=3696
# samples 1429
** MAII scorelog2(14/70*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(29/3696*10)=-3.67183995140112
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GABRE [Title/Abstract] AND JUP [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
HgeneGABRE

GO:2001226

negative regulation of chloride transport

9039914

TgeneJUP

GO:0002159

desmosome assembly

22889254

TgeneJUP

GO:0042127

regulation of cell proliferation

17924338

TgeneJUP

GO:0042307

positive regulation of protein import into nucleus

10825188|14661054

TgeneJUP

GO:0050982

detection of mechanical stimulus

18937352

TgeneJUP

GO:0051091

positive regulation of DNA binding transcription factor activity

14661054

TgeneJUP

GO:0071681

cellular response to indole-3-methanol

10868478

TgeneJUP

GO:0098609

cell-cell adhesion

18937352


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
ChiTaRS3.1CV354260GABREchrX

151123890

+JUPchr17

39767326

+
* 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
intron-intronENST00000370328ENST00000540235GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000370328ENST00000393930GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000370328ENST00000393931GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000370328ENST00000310706GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000370325ENST00000540235GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000370325ENST00000393930GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000370325ENST00000393931GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000370325ENST00000310706GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000393914ENST00000540235GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000393914ENST00000393930GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000393914ENST00000393931GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000393914ENST00000310706GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000483564ENST00000540235GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000483564ENST00000393930GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000483564ENST00000393931GABREchrX

151123890

+JUPchr17

39767326

+
intron-intronENST00000483564ENST00000310706GABREchrX

151123890

+JUPchr17

39767326

+

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FusionProtFeatures for GABRE_JUP


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

P78334

JUP

P14923

GABA, the major inhibitory neurotransmitter in thevertebrate brain, mediates neuronal inhibition by binding to theGABA/benzodiazepine receptor and opening an integral chloridechannel. Common junctional plaque protein. The membrane-associated plaques are architectural elements in an importantstrategic position to influence the arrangement and function ofboth the cytoskeleton and the cells within the tissue. Thepresence of plakoglobin in both the desmosomes and in theintermediate junctions suggests that it plays a central role inthe structure and function of submembranous plaques. Acts as asubstrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-cateninin E-cadherin/catenin adhesion complexes which are proposed tocouple cadherins to the actin cytoskeleton (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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FusionGeneSequence for GABRE_JUP


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).

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FusionGenePPI for GABRE_JUP


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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RelatedDrugs for GABRE_JUP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGABREP78334DB00546AdinazolamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved
HgeneGABREP78334DB00842OxazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved
HgeneGABREP78334DB00898EthanolGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved
HgeneGABREP78334DB01587KetazolamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved
HgeneGABREP78334DB01594CinolazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved
HgeneGABREP78334DB01595NitrazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved
HgeneGABREP78334DB00683MidazolamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit
HgeneGABREP78334DB01215EstazolamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit
HgeneGABREP78334DB01559ClotiazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit
HgeneGABREP78334DB01567FludiazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit
HgeneGABREP78334DB01588PrazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit
HgeneGABREP78334DB01589QuazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit
HgeneGABREP78334DB00690FlurazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit|investigational
HgeneGABREP78334DB01558BromazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit|investigational
HgeneGABREP78334DB00829DiazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit|investigational|vet_approved
HgeneGABREP78334DB00801HalazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit|withdrawn
HgeneGABREP78334DB00231TemazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|investigational
HgeneGABREP78334DB00897TriazolamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|investigational
TgeneJUPP14923DB01593ZincJunction plakoglobinsmall moleculeapproved|investigational

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RelatedDiseases for GABRE_JUP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneJUPC0023895Liver diseases1CTD_human
TgeneJUPC0033578Prostatic Neoplasms1CTD_human
TgeneJUPC0232347No-Reflow Phenomenon1CTD_human
TgeneJUPC1969081Arrhythmogenic Right Ventricular Dysplasia, Familial, 121CTD_human;UNIPROT