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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: 14493

FusionGeneSummary for GBF1_UBE2R2

check button Fusion gene summary
Fusion gene informationFusion gene name: GBF1_UBE2R2
Fusion gene ID: 14493
HgeneTgene
Gene symbol

GBF1

UBE2R2

Gene ID

80142

54926

Gene nameprostaglandin E synthase 2ubiquitin conjugating enzyme E2 R2
SynonymsC9orf15|GBF-1|GBF1|PGES2|mPGES-2CDC34B|E2-CDC34B|UBC3B
Cytomap

9q34.11

9p13.3

Type of geneprotein-codingprotein-coding
Descriptionprostaglandin E synthase 2GATE-binding factor 1gamma-interferon-activated transcriptional element-binding factor 1mPGE synthase-2membrane-associated prostaglandin E synthase 2microsomal prostaglandin E synthase-2prostaglandin-H(2) E-isomeraseubiquitin-conjugating enzyme E2 R2E2 ubiquitin-conjugating enzyme R2ubiquitin carrier protein R2ubiquitin conjugating enzyme E2R 2ubiquitin-conjugating enzyme E2-CDC34Bubiquitin-conjugating enzyme UBC3Bubiquitin-protein ligase R2
Modification date2018051920180523
UniProtAcc

Q92538

Q712K3

Ensembl transtripts involved in fusion geneENST00000369983, ENST00000476019, 
ENST00000263228, 
Fusion gene scores* DoF score11 X 7 X 8=61611 X 7 X 6=462
# samples 1211
** MAII scorelog2(12/616*10)=-2.35989594508638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/462*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GBF1 [Title/Abstract] AND UBE2R2 [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
TgeneUBE2R2

GO:0006513

protein monoubiquitination

20061386

TgeneUBE2R2

GO:0070936

protein K48-linked ubiquitination

20061386


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
TCGARVBLCATCGA-2F-A9KP-01AGBF1chr10

104103939

+UBE2R2chr9

33886879

+
* 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
Frame-shiftENST00000369983ENST00000263228GBF1chr10

104103939

+UBE2R2chr9

33886879

+
intron-3CDSENST00000476019ENST00000263228GBF1chr10

104103939

+UBE2R2chr9

33886879

+

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FusionProtFeatures for GBF1_UBE2R2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GBF1

Q92538

UBE2R2

Q712K3

Guanine-nucleotide exchange factor (GEF) for members ofthe Arf family of small GTPases involved in trafficking in theearly secretory pathway; its GEF activity initiates the coating ofnascent vesicles via the localized generation of activated ARFsthrough replacement of GDP with GTP. Recruitment to cis-Golgimembranes requires membrane association of Arf-GDP and can beregulated by ARF1, ARF3, ARF4 and ARF5. Involved in therecruitment of the COPI coat complex to the endoplasmic reticulumexit sites (ERES), and the endoplasmic reticulum-Golgiintermediate (ERGIC) and cis-Golgi compartments which implicatesARF1 activation. Involved in COPI vesicle-dependent retrogradetransport from the ERGIC and cis-Golgi compartments to theendoplasmic reticulum (ER) (PubMed:16926190, PubMed:17956946,PubMed:18003980, PubMed:12047556, PubMed:12808027,PubMed:19039328, PubMed:24213530). Involved in the trans-Golginetwork recruitment of GGA1, GGA2, GGA3, BIG1, BIG2, and the AP-1adaptor protein complex related to chlathrin-dependent transport;the function requires its GEF activity (probably at least in parton ARF4 and ARF5) (PubMed:23386609). Has GEF activity towards ARF1(PubMed:15616190). Has in vitro GEF activity towards ARF5 (Bysimilarity). Involved in the processing of PSAP (PubMed:17666033).Required for the assembly of the Golgi apparatus (PubMed:12808027,PubMed:18003980). The AMPK-phosphorylated form is involved inGolgi disassembly during mitotis and under stress conditions(PubMed:18063581, PubMed:23418352). May be involved in the COPIvesicle-dependent recruitment of PNPLA2 to lipid droplets;however, this function is under debate (PubMed:19461073,PubMed:22185782). In neutrophils, involved in G protein-coupledreceptor (GPCR)-mediated chemotaxis und superoxide production.Proposed to be recruited by phosphatidylinositol-phosphatesgenerated upon GPCR stimulation to the leading edge where itrecruits and activates ARF1, and is involved in recruitment ofGIT2 and the NADPH oxidase complex (PubMed:22573891).{ECO:0000250|UniProtKB:Q9R1D7, ECO:0000269|PubMed:12047556,ECO:0000269|PubMed:12808027, ECO:0000269|PubMed:15616190,ECO:0000269|PubMed:16926190, ECO:0000269|PubMed:17666033,ECO:0000269|PubMed:17956946, ECO:0000269|PubMed:18003980,ECO:0000269|PubMed:18063581, ECO:0000269|PubMed:19461073,ECO:0000269|PubMed:22185782, ECO:0000269|PubMed:22573891,ECO:0000269|PubMed:23386609, ECO:0000269|PubMed:23418352,ECO:0000269|PubMed:24213530, ECO:0000305|PubMed:19039328,ECO:0000305|PubMed:22573891}. Accepts ubiquitin from the E1 complex and catalyzes itscovalent attachment to other proteins. In vitro catalyzesmonoubiquitination and 'Lys-48'-linked polyubiquitination. May beinvolved in degradation of katenin. {ECO:0000269|PubMed:12037680,ECO:0000269|PubMed:20061386}.

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 GBF1_UBE2R2


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 GBF1_UBE2R2


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
GBF1YWHAG, COPG1, KBTBD7, VCP, HDAC6, EGFR, PNPLA2, YWHAB, BIRC6, EPS15L1, NUP85, PLEC, CCAR2, NCAPH, RABL6, IRS4, IVNS1ABP, FBXW11, BTRC, SPACA1, PNKD, LYPD3, KIF4A, PUS7, RBM26, VARS, NTRK1, SRPK2, FBXO7, ZSCAN26, FOXB1, FOXG1, FOXI2, FOXL1, CDC73, TMEM206, CHRM3, GML, MILR1, DLK2, NPY2R, EPHA1, UBCUBE2R2BTRC, RNF113B, ARIH2, CBLC, DTX3L, DZIP3, INF2, PNPLA2, ARHGDIA, FBXW5, RBX1, C9orf78, NUBP2, RAD23A, SFN, DRG2, EZR, GNPDA1, PAK2, UBR7, WDR4, YWHAE, YWHAG, YWHAH, UBC, UBA1, UBE2R2, MEOX1, APPBP2, FBXW11, UBE2D2, KRAS, CTNNB1, TCEANC2, IRF9, BATF3, MUL1, SIRT7


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 GBF1_UBE2R2


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

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RelatedDiseases for GBF1_UBE2R2


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