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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: 14245

FusionGeneSummary for GABRE_SYNPO2

check button Fusion gene summary
Fusion gene informationFusion gene name: GABRE_SYNPO2
Fusion gene ID: 14245
HgeneTgene
Gene symbol

GABRE

SYNPO2

Gene ID

2564

171024

Gene namegamma-aminobutyric acid type A receptor epsilon subunitsynaptopodin 2
Synonyms--
Cytomap

Xq28

4q26

Type of geneprotein-codingprotein-coding
Descriptiongamma-aminobutyric acid receptor subunit epsilonGABA(A) receptor subunit epsilonGABA(A) receptor, epsilongamma-aminobutyric acid (GABA) A receptor, epsilonsynaptopodin-2genethonin-2myopodin
Modification date2018052320180523
UniProtAcc

P78334

Q9UMS6

Ensembl transtripts involved in fusion geneENST00000370328, ENST00000370325, 
ENST00000393914, ENST00000483564, 
ENST00000307142, ENST00000448416, 
ENST00000429713, ENST00000434046, 
Fusion gene scores* DoF score5 X 7 X 2=707 X 6 X 3=126
# samples 148
** MAII scorelog2(14/70*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/126*10)=-0.655351828612554
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GABRE [Title/Abstract] AND SYNPO2 [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


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
ChiTaRS3.1BF827216GABREchrX

151123454

-SYNPO2chr4

119951199

+
* 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-3CDSENST00000370328ENST00000307142GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-intronENST00000370328ENST00000448416GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-intronENST00000370328ENST00000429713GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-intronENST00000370328ENST00000434046GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-3CDSENST00000370325ENST00000307142GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-intronENST00000370325ENST00000448416GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-intronENST00000370325ENST00000429713GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-intronENST00000370325ENST00000434046GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-3CDSENST00000393914ENST00000307142GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-intronENST00000393914ENST00000448416GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-intronENST00000393914ENST00000429713GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-intronENST00000393914ENST00000434046GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-3CDSENST00000483564ENST00000307142GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-intronENST00000483564ENST00000448416GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-intronENST00000483564ENST00000429713GABREchrX

151123454

-SYNPO2chr4

119951199

+
intron-intronENST00000483564ENST00000434046GABREchrX

151123454

-SYNPO2chr4

119951199

+

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FusionProtFeatures for GABRE_SYNPO2


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

P78334

SYNPO2

Q9UMS6

GABA, the major inhibitory neurotransmitter in thevertebrate brain, mediates neuronal inhibition by binding to theGABA/benzodiazepine receptor and opening an integral chloridechannel. Has an actin-binding and actin-bundling activity. Caninduce the formation of F-actin networks in an isoform-specificmanner (PubMed:24005909, PubMed:23225103). At the sarcomeric Zlines is proposed to act as adapter protein that links nascentmyofibers to the sarcolemma via ZYX and may play a role in earlyassembly and stabilization of the Z lines. Involved inautophagosome formation. May play a role in chaperone-assistedselective autophagy (CASA) involved in Z lines maintenance instriated muscle under mechanical tension; may link the client-processing CASA chaperone machinery to a membrane-tethering andfusion complex providing autophagosome membranes (By similarity).Involved in regulation of cell migration (PubMed:22915763,PubMed:25883213). May be a tumor suppressor (PubMed:16885336).{ECO:0000250|UniProtKB:D4A702, ECO:0000250|UniProtKB:Q91YE8,ECO:0000269|PubMed:22915763, ECO:0000269|PubMed:23225103,ECO:0000269|PubMed:24005909, ECO:0000269|PubMed:25883213,ECO:0000305|PubMed:16885336, ECO:0000305|PubMed:20554076}. Isoform 1: Involved in regulation of cell migration. Caninduce formation of thick, irregular actin bundles in the cellbody. {ECO:0000269|PubMed:22915763, ECO:0000269|PubMed:24005909}. Isoform 2: Involved in regulation of cell migration. Caninduce long, well-organized actin bundles frequently orientated inparallel along the long axis of the cell showing characteristicsof contractile ventral stress fibers.{ECO:0000269|PubMed:22915763, ECO:0000269|PubMed:24005909}. Isoform 3: Involved in regulation of cell migration. Caninduce an amorphous actin meshwork throughout the cell bodycontaining a mixture of long and short, randomly organized thickand thin actin bundles. {ECO:0000269|PubMed:22915763,ECO:0000269|PubMed:24005909}. Isoform 4: Can induce long, well-organized actin bundlesfrequently orientated in parallel along the long axis of the cellshowing characteristics of contractile ventral stress fibers.{ECO:0000269|PubMed:24005909}. Isoform 5: Involved in regulation of cell migration inpart dependent on the Rho-ROCK cascade; can promote formation ofnascent focal adhesions, actin bundles at the leading cell edgeand lamellipodia (PubMed:22915763, PubMed:25883213). Can induceformation of thick, irregular actin bundles in the cell body; theinduced actin network is associated with enhanced cell migrationin vitro. {ECO:0000269|PubMed:22915763,ECO:0000269|PubMed:24005909, ECO:0000269|PubMed:25883213}.

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_SYNPO2


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_SYNPO2


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_SYNPO2


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

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RelatedDiseases for GABRE_SYNPO2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSYNPO2C0677886Epithelial ovarian cancer1CTD_human