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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: 27213

FusionGeneSummary for PIK3R2_SETX

check button Fusion gene summary
Fusion gene informationFusion gene name: PIK3R2_SETX
Fusion gene ID: 27213
HgeneTgene
Gene symbol

PIK3R2

SETX

Gene ID

5296

23064

Gene namephosphoinositide-3-kinase regulatory subunit 2senataxin
SynonymsMPPH|MPPH1|P85B|p85|p85-BETAALS4|AOA2|SCAR1|Sen1|bA479K20.2
Cytomap

19p13.11

9q34.13

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol 3-kinase regulatory subunit betaPI3-kinase subunit p85-betaPI3K regulatory subunit betaphosphatidylinositol 3-kinase 85 kDa regulatory subunit betaphosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2 (p85 beta)phosphoprobable helicase senataxinSEN1 homologamyotrophic lateral sclerosis 4 protein
Modification date2018052320180523
UniProtAcc

O00459

Q7Z333

Ensembl transtripts involved in fusion geneENST00000222254, ENST00000593731, 
ENST00000477049, ENST00000224140, 
ENST00000393220, ENST00000372169, 
Fusion gene scores* DoF score5 X 6 X 1=303 X 3 X 1=9
# samples 73
** MAII scorelog2(7/30*10)=1.22239242133645
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PIK3R2 [Title/Abstract] AND SETX [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
HgenePIK3R2

GO:0014065

phosphatidylinositol 3-kinase signaling

23604317

TgeneSETX

GO:0000165

MAPK cascade

21576111

TgeneSETX

GO:0006302

double-strand break repair

17562789

TgeneSETX

GO:0006974

cellular response to DNA damage stimulus

17562789

TgeneSETX

GO:0008543

fibroblast growth factor receptor signaling pathway

21576111

TgeneSETX

GO:0010976

positive regulation of neuron projection development

21576111

TgeneSETX

GO:0034599

cellular response to oxidative stress

17562789

TgeneSETX

GO:0043066

negative regulation of apoptotic process

21576111

TgeneSETX

GO:0043491

protein kinase B signaling

21576111

TgeneSETX

GO:0044344

cellular response to fibroblast growth factor stimulus

21576111

TgeneSETX

GO:0070301

cellular response to hydrogen peroxide

17562789

TgeneSETX

GO:0071300

cellular response to retinoic acid

21576111


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
ChiTaRS3.1AA496625PIK3R2chr19

18288845

-SETXchr9

135150689

+
* 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-5UTRENST00000222254ENST00000477049PIK3R2chr19

18288845

-SETXchr9

135150689

+
intron-5UTRENST00000222254ENST00000224140PIK3R2chr19

18288845

-SETXchr9

135150689

+
intron-5UTRENST00000222254ENST00000393220PIK3R2chr19

18288845

-SETXchr9

135150689

+
intron-5UTRENST00000222254ENST00000372169PIK3R2chr19

18288845

-SETXchr9

135150689

+
3UTR-5UTRENST00000593731ENST00000477049PIK3R2chr19

18288845

-SETXchr9

135150689

+
3UTR-5UTRENST00000593731ENST00000224140PIK3R2chr19

18288845

-SETXchr9

135150689

+
3UTR-5UTRENST00000593731ENST00000393220PIK3R2chr19

18288845

-SETXchr9

135150689

+
3UTR-5UTRENST00000593731ENST00000372169PIK3R2chr19

18288845

-SETXchr9

135150689

+

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FusionProtFeatures for PIK3R2_SETX


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PIK3R2

O00459

SETX

Q7Z333

Regulatory subunit of phosphoinositide-3-kinase (PI3K),a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PHdomain-containing proteins to the membrane, including AKT1 andPDPK1, activating signaling cascades involved in cell growth,survival, proliferation, motility and morphology. Binds toactivated (phosphorylated) protein-tyrosine kinases, through itsSH2 domain, and acts as an adapter, mediating the association ofthe p110 catalytic unit to the plasma membrane. Indirectlyregulates autophagy (PubMed:23604317). Promotes nucleartranslocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver andhence plays a role in glucose tolerance improvement (Bysimilarity). {ECO:0000250|UniProtKB:O08908,ECO:0000269|PubMed:23604317}.

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 PIK3R2_SETX


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 PIK3R2_SETX


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 PIK3R2_SETX


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePIK3R2O00459DB01064IsoprenalinePhosphatidylinositol 3-kinase regulatory subunit betasmall moleculeapproved|investigational

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RelatedDiseases for PIK3R2_SETX


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePIK3R2C4012727MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 13UNIPROT
HgenePIK3R2C1863924Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome1CTD_human
TgeneSETXC1853761SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17CTD_human;ORPHANET;UNIPROT
TgeneSETXC1865409Amyotrophic Lateral Sclerosis 4, Juvenile4CTD_human;ORPHANET;UNIPROT