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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: 28562

FusionGeneSummary for PPWD1_GABRE

check button Fusion gene summary
Fusion gene informationFusion gene name: PPWD1_GABRE
Fusion gene ID: 28562
HgeneTgene
Gene symbol

PPWD1

GABRE

Gene ID

23398

2564

Gene namepeptidylprolyl isomerase domain and WD repeat containing 1gamma-aminobutyric acid type A receptor epsilon subunit
Synonyms--
Cytomap

5q12.3

Xq28

Type of geneprotein-codingprotein-coding
Descriptionpeptidylprolyl isomerase domain and WD repeat-containing protein 1spliceosome-associated cyclophilingamma-aminobutyric acid receptor subunit epsilonGABA(A) receptor subunit epsilonGABA(A) receptor, epsilongamma-aminobutyric acid (GABA) A receptor, epsilon
Modification date2018052320180523
UniProtAcc

Q96BP3

P78334

Ensembl transtripts involved in fusion geneENST00000261308, ENST00000535264, 
ENST00000538977, 
ENST00000370328, 
ENST00000370325, ENST00000393914, 
ENST00000483564, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 5 X 1=15
# samples 212
** MAII scorelog2(2/8*10)=1.32192809488736log2(12/15*10)=3
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PPWD1 [Title/Abstract] AND GABRE [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
HgenePPWD1

GO:0000413

protein peptidyl-prolyl isomerization

20676357

TgeneGABRE

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
ChiTaRS3.1BF993166PPWD1chr5

64867896

-GABREchrX

151127054

-
* 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-intronENST00000261308ENST00000370328PPWD1chr5

64867896

-GABREchrX

151127054

-
5CDS-intronENST00000261308ENST00000370325PPWD1chr5

64867896

-GABREchrX

151127054

-
5CDS-intronENST00000261308ENST00000393914PPWD1chr5

64867896

-GABREchrX

151127054

-
5CDS-intronENST00000261308ENST00000483564PPWD1chr5

64867896

-GABREchrX

151127054

-
5CDS-intronENST00000535264ENST00000370328PPWD1chr5

64867896

-GABREchrX

151127054

-
5CDS-intronENST00000535264ENST00000370325PPWD1chr5

64867896

-GABREchrX

151127054

-
5CDS-intronENST00000535264ENST00000393914PPWD1chr5

64867896

-GABREchrX

151127054

-
5CDS-intronENST00000535264ENST00000483564PPWD1chr5

64867896

-GABREchrX

151127054

-
5CDS-intronENST00000538977ENST00000370328PPWD1chr5

64867896

-GABREchrX

151127054

-
5CDS-intronENST00000538977ENST00000370325PPWD1chr5

64867896

-GABREchrX

151127054

-
5CDS-intronENST00000538977ENST00000393914PPWD1chr5

64867896

-GABREchrX

151127054

-
5CDS-intronENST00000538977ENST00000483564PPWD1chr5

64867896

-GABREchrX

151127054

-

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FusionProtFeatures for PPWD1_GABRE


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPWD1

Q96BP3

GABRE

P78334

PPIase that catalyzes the cis-trans isomerization ofproline imidic peptide bonds in oligopeptides and may thereforeassist protein folding (PubMed:20676357). May be involved in pre-mRNA splicing (PubMed:11991638). {ECO:0000269|PubMed:11991638,ECO:0000269|PubMed:20676357}. 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


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FusionGeneSequence for PPWD1_GABRE


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 PPWD1_GABRE


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 PPWD1_GABRE


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGABREP78334DB00546AdinazolamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved
TgeneGABREP78334DB00842OxazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved
TgeneGABREP78334DB00898EthanolGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved
TgeneGABREP78334DB01587KetazolamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved
TgeneGABREP78334DB01594CinolazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved
TgeneGABREP78334DB01595NitrazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved
TgeneGABREP78334DB00683MidazolamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit
TgeneGABREP78334DB01215EstazolamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit
TgeneGABREP78334DB01559ClotiazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit
TgeneGABREP78334DB01567FludiazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit
TgeneGABREP78334DB01588PrazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit
TgeneGABREP78334DB01589QuazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit
TgeneGABREP78334DB00690FlurazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit|investigational
TgeneGABREP78334DB01558BromazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit|investigational
TgeneGABREP78334DB00829DiazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit|investigational|vet_approved
TgeneGABREP78334DB00801HalazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|illicit|withdrawn
TgeneGABREP78334DB00231TemazepamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|investigational
TgeneGABREP78334DB00897TriazolamGamma-aminobutyric acid receptor subunit epsilonsmall moleculeapproved|investigational

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RelatedDiseases for PPWD1_GABRE


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