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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: 28567

FusionGeneSummary for PQBP1_PQBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: PQBP1_PQBP1
Fusion gene ID: 28567
HgeneTgene
Gene symbol

PQBP1

PQBP1

Gene ID

10084

10084

Gene namepolyglutamine binding protein 1polyglutamine binding protein 1
SynonymsMRX2|MRX55|MRXS3|MRXS8|NPW38|RENS1|SHSMRX2|MRX55|MRXS3|MRXS8|NPW38|RENS1|SHS
Cytomap

Xp11.23

Xp11.23

Type of geneprotein-codingprotein-coding
Descriptionpolyglutamine-binding protein 138 kDa nuclear protein containing a WW domainpolyglutamine tract-binding protein 1polyglutamine-binding protein 138 kDa nuclear protein containing a WW domainpolyglutamine tract-binding protein 1
Modification date2018051920180519
UniProtAcc

O60828

O60828

Ensembl transtripts involved in fusion geneENST00000376566, ENST00000376563, 
ENST00000376548, ENST00000447146, 
ENST00000473764, ENST00000247140, 
ENST00000218224, ENST00000396763, 
ENST00000376566, ENST00000376563, 
ENST00000376548, ENST00000447146, 
ENST00000473764, ENST00000247140, 
ENST00000218224, ENST00000396763, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 1=9
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PQBP1 [Title/Abstract] AND PQBP1 [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
HgenePQBP1

GO:0002218

activation of innate immune response

26046437

HgenePQBP1

GO:0002230

positive regulation of defense response to virus by host

26046437

HgenePQBP1

GO:0032481

positive regulation of type I interferon production

26046437

HgenePQBP1

GO:0051607

defense response to virus

26046437

HgenePQBP1

GO:0071360

cellular response to exogenous dsRNA

26046437

TgenePQBP1

GO:0002218

activation of innate immune response

26046437

TgenePQBP1

GO:0002230

positive regulation of defense response to virus by host

26046437

TgenePQBP1

GO:0032481

positive regulation of type I interferon production

26046437

TgenePQBP1

GO:0051607

defense response to virus

26046437

TgenePQBP1

GO:0071360

cellular response to exogenous dsRNA

26046437


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
ChiTaRS3.1BE159568PQBP1chrX

48760254

-PQBP1chrX

48760014

+
* 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
In-frameENST00000376566ENST00000376566PQBP1chrX

48760254

-PQBP1chrX

48760014

+
In-frameENST00000376566ENST00000376563PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-intronENST00000376566ENST00000376548PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-intronENST00000376566ENST00000447146PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000376566ENST00000473764PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000376566ENST00000247140PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000376566ENST00000218224PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000376566ENST00000396763PQBP1chrX

48760254

-PQBP1chrX

48760014

+
In-frameENST00000376563ENST00000376566PQBP1chrX

48760254

-PQBP1chrX

48760014

+
In-frameENST00000376563ENST00000376563PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-intronENST00000376563ENST00000376548PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-intronENST00000376563ENST00000447146PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000376563ENST00000473764PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000376563ENST00000247140PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000376563ENST00000218224PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000376563ENST00000396763PQBP1chrX

48760254

-PQBP1chrX

48760014

+
intron-3CDSENST00000376548ENST00000376566PQBP1chrX

48760254

-PQBP1chrX

48760014

+
intron-3CDSENST00000376548ENST00000376563PQBP1chrX

48760254

-PQBP1chrX

48760014

+
intron-intronENST00000376548ENST00000376548PQBP1chrX

48760254

-PQBP1chrX

48760014

+
intron-intronENST00000376548ENST00000447146PQBP1chrX

48760254

-PQBP1chrX

48760014

+
intron-3UTRENST00000376548ENST00000473764PQBP1chrX

48760254

-PQBP1chrX

48760014

+
intron-3UTRENST00000376548ENST00000247140PQBP1chrX

48760254

-PQBP1chrX

48760014

+
intron-3UTRENST00000376548ENST00000218224PQBP1chrX

48760254

-PQBP1chrX

48760014

+
intron-3UTRENST00000376548ENST00000396763PQBP1chrX

48760254

-PQBP1chrX

48760014

+
In-frameENST00000447146ENST00000376566PQBP1chrX

48760254

-PQBP1chrX

48760014

+
In-frameENST00000447146ENST00000376563PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-intronENST00000447146ENST00000376548PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-intronENST00000447146ENST00000447146PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000447146ENST00000473764PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000447146ENST00000247140PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000447146ENST00000218224PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000447146ENST00000396763PQBP1chrX

48760254

-PQBP1chrX

48760014

+
3UTR-3CDSENST00000473764ENST00000376566PQBP1chrX

48760254

-PQBP1chrX

48760014

+
3UTR-3CDSENST00000473764ENST00000376563PQBP1chrX

48760254

-PQBP1chrX

48760014

+
3UTR-intronENST00000473764ENST00000376548PQBP1chrX

48760254

-PQBP1chrX

48760014

+
3UTR-intronENST00000473764ENST00000447146PQBP1chrX

48760254

-PQBP1chrX

48760014

+
3UTR-3UTRENST00000473764ENST00000473764PQBP1chrX

48760254

-PQBP1chrX

48760014

+
3UTR-3UTRENST00000473764ENST00000247140PQBP1chrX

48760254

-PQBP1chrX

48760014

+
3UTR-3UTRENST00000473764ENST00000218224PQBP1chrX

48760254

-PQBP1chrX

48760014

+
3UTR-3UTRENST00000473764ENST00000396763PQBP1chrX

48760254

-PQBP1chrX

48760014

+
In-frameENST00000247140ENST00000376566PQBP1chrX

48760254

-PQBP1chrX

48760014

+
In-frameENST00000247140ENST00000376563PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-intronENST00000247140ENST00000376548PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-intronENST00000247140ENST00000447146PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000247140ENST00000473764PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000247140ENST00000247140PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000247140ENST00000218224PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000247140ENST00000396763PQBP1chrX

48760254

-PQBP1chrX

48760014

+
In-frameENST00000218224ENST00000376566PQBP1chrX

48760254

-PQBP1chrX

48760014

+
In-frameENST00000218224ENST00000376563PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-intronENST00000218224ENST00000376548PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-intronENST00000218224ENST00000447146PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000218224ENST00000473764PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000218224ENST00000247140PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000218224ENST00000218224PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000218224ENST00000396763PQBP1chrX

48760254

-PQBP1chrX

48760014

+
In-frameENST00000396763ENST00000376566PQBP1chrX

48760254

-PQBP1chrX

48760014

+
In-frameENST00000396763ENST00000376563PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-intronENST00000396763ENST00000376548PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-intronENST00000396763ENST00000447146PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000396763ENST00000473764PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000396763ENST00000247140PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000396763ENST00000218224PQBP1chrX

48760254

-PQBP1chrX

48760014

+
5CDS-3UTRENST00000396763ENST00000396763PQBP1chrX

48760254

-PQBP1chrX

48760014

+

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FusionProtFeatures for PQBP1_PQBP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PQBP1

O60828

PQBP1

O60828


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 PQBP1_PQBP1


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 PQBP1_PQBP1


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 PQBP1_PQBP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for PQBP1_PQBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePQBP1C0796135Renpenning syndrome 14CTD_human;UNIPROT
HgenePQBP1C0025958Microcephaly3CTD_human
HgenePQBP1C0018273Growth Disorders2CTD_human
HgenePQBP1C1136249Mental Retardation, X-Linked2CTD_human
HgenePQBP1C0018817Atrial Septal Defects1CTD_human;HPO
HgenePQBP1C0037773Spastic Paraplegia, Hereditary1CTD_human
TgenePQBP1C0796135Renpenning syndrome 14CTD_human;UNIPROT
TgenePQBP1C0025958Microcephaly3CTD_human
TgenePQBP1C0018273Growth Disorders2CTD_human
TgenePQBP1C1136249Mental Retardation, X-Linked2CTD_human
TgenePQBP1C0018817Atrial Septal Defects1CTD_human;HPO
TgenePQBP1C0037773Spastic Paraplegia, Hereditary1CTD_human