FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 28643

FusionGeneSummary for PREX2_C8orf34

check button Fusion gene summary
Fusion gene informationFusion gene name: PREX2_C8orf34
Fusion gene ID: 28643
HgeneTgene
Gene symbol

PREX2

C8orf34

Gene ID

80243

116328

Gene namephosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2chromosome 8 open reading frame 34
SynonymsDEP.2|DEPDC2|P-REX2|PPP1R129VEST-1|VEST1
Cytomap

8q13.2

8q13.2

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 proteinDEP domain-containing protein 2PtdIns(3,4,5)-dependent Rac exchanger 2protein phosphatase 1, regulatory subunit 129uncharacterized protein C8orf34protein VEST-1vestibule-1 protein
Modification date2018052320180519
UniProtAcc

Q70Z35

Q49A92

Ensembl transtripts involved in fusion geneENST00000288368, ENST00000529398, 
ENST00000539993, ENST00000518698, 
ENST00000349492, ENST00000523686, 
ENST00000348340, ENST00000337103, 
ENST00000325233, 
Fusion gene scores* DoF score2 X 2 X 2=811 X 8 X 9=792
# samples 210
** MAII scorelog2(2/8*10)=1.32192809488736log2(10/792*10)=-2.98550043030489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PREX2 [Title/Abstract] AND C8orf34 [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
HgenePREX2

GO:0007186

G-protein coupled receptor signaling pathway

15304343


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
TCGALDLIHCTCGA-DD-A1EL-01APREX2chr8

69069671

+C8orf34chr8

69350081

+
* 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-intronENST00000288368ENST00000539993PREX2chr8

69069671

+C8orf34chr8

69350081

+
5CDS-intronENST00000288368ENST00000518698PREX2chr8

69069671

+C8orf34chr8

69350081

+
5CDS-intronENST00000288368ENST00000349492PREX2chr8

69069671

+C8orf34chr8

69350081

+
5CDS-intronENST00000288368ENST00000523686PREX2chr8

69069671

+C8orf34chr8

69350081

+
5CDS-intronENST00000288368ENST00000348340PREX2chr8

69069671

+C8orf34chr8

69350081

+
5CDS-intronENST00000288368ENST00000337103PREX2chr8

69069671

+C8orf34chr8

69350081

+
5CDS-intronENST00000288368ENST00000325233PREX2chr8

69069671

+C8orf34chr8

69350081

+
intron-intronENST00000529398ENST00000539993PREX2chr8

69069671

+C8orf34chr8

69350081

+
intron-intronENST00000529398ENST00000518698PREX2chr8

69069671

+C8orf34chr8

69350081

+
intron-intronENST00000529398ENST00000349492PREX2chr8

69069671

+C8orf34chr8

69350081

+
intron-intronENST00000529398ENST00000523686PREX2chr8

69069671

+C8orf34chr8

69350081

+
intron-intronENST00000529398ENST00000348340PREX2chr8

69069671

+C8orf34chr8

69350081

+
intron-intronENST00000529398ENST00000337103PREX2chr8

69069671

+C8orf34chr8

69350081

+
intron-intronENST00000529398ENST00000325233PREX2chr8

69069671

+C8orf34chr8

69350081

+

Top

FusionProtFeatures for PREX2_C8orf34


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PREX2

Q70Z35

C8orf34

Q49A92

Functions as a RAC1 guanine nucleotide exchange factor(GEF), activating Rac proteins by exchanging bound GDP for freeGTP. Its activity is synergistically activated byphosphatidylinositol 3,4,5-trisphosphate and the beta gammasubunits of heterotrimeric G protein. Mediates the activation ofRAC1 in a PI3K-dependent manner. May be an important mediator ofRac signaling, acting directly downstream of both G protein-coupled receptors and phosphoinositide 3-kinase.{ECO:0000269|PubMed:15304342, ECO:0000269|PubMed:15304343,ECO:0000269|PubMed:15897194}.

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


Top

FusionGeneSequence for PREX2_C8orf34


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).

Top

FusionGenePPI for PREX2_C8orf34


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
PREX2MTOR, GNMT, HUWE1C8orf34UBC, MCM7, MTUS2, C8orf34, ASB7, CNDP2


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


Top

RelatedDrugs for PREX2_C8orf34


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 PREX2_C8orf34


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