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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:UGP2-SFPQ (FusionGDB2 ID:HG7360TG6421)

Fusion Gene Summary for UGP2-SFPQ

check button Fusion gene summary
Fusion gene informationFusion gene name: UGP2-SFPQ
Fusion gene ID: hg7360tg6421
HgeneTgene
Gene symbol

UGP2

SFPQ

Gene ID

7360

6421

Gene nameUDP-glucose pyrophosphorylase 2splicing factor proline and glutamine rich
SynonymsEIEE83|SVUGP2|UDPG|UDPGP|UDPGP2|UGP1|UGPP1|UGPP2|pHC379POMP100|PPP1R140|PSF
Cytomap('UGP2')('SFPQ')

2p15

1p34.3

Type of geneprotein-codingprotein-coding
DescriptionUTP--glucose-1-phosphate uridylyltransferaseUDP-glucose diphosphorylaseUDP-glucose pyrophosphorylase 1UGPase 2UTP--glucose-1-phosphate uridylyltransferase 2UTP-glucose-1-phosphate uridyltransferaseUridyl diphosphate glucose pyrophosphorylase-1testisplicing factor, proline- and glutamine-rich100 kDa DNA-pairing proteinDNA-binding p52/p100 complex, 100 kDa subunitPTB-associated splicing factorepididymis secretory sperm binding proteinpolypyrimidine tract binding protein associatedpolypyrimidine
Modification date2020031320200313
UniProtAcc.

P23246

Ensembl transtripts involved in fusion geneENST00000337130, ENST00000394417, 
ENST00000445915, ENST00000467648, 
ENST00000487469, 
Fusion gene scores* DoF score6 X 4 X 4=9623 X 15 X 8=2760
# samples 626
** MAII scorelog2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(26/2760*10)=-3.40808473863708
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UGP2 [Title/Abstract] AND SFPQ [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUGP2(64085070)-SFPQ(35643637), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneSFPQ

GO:0000122

negative regulation of transcription by RNA polymerase II

16731528

TgeneSFPQ

GO:0002218

activation of innate immune response

28712728

TgeneSFPQ

GO:1902177

positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway

15790595



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-A44T-01AUGP2chr2

64085070

+SFPQchr1

35643637

-


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Fusion Gene ORF analysis for UGP2-SFPQ

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-5UTRENST00000337130ENST00000468598UGP2chr2

64085070

+SFPQchr1

35643637

-
5CDS-5UTRENST00000394417ENST00000468598UGP2chr2

64085070

+SFPQchr1

35643637

-
5CDS-5UTRENST00000445915ENST00000468598UGP2chr2

64085070

+SFPQchr1

35643637

-
5CDS-5UTRENST00000467648ENST00000468598UGP2chr2

64085070

+SFPQchr1

35643637

-
5CDS-intronENST00000337130ENST00000357214UGP2chr2

64085070

+SFPQchr1

35643637

-
5CDS-intronENST00000394417ENST00000357214UGP2chr2

64085070

+SFPQchr1

35643637

-
5CDS-intronENST00000445915ENST00000357214UGP2chr2

64085070

+SFPQchr1

35643637

-
5CDS-intronENST00000467648ENST00000357214UGP2chr2

64085070

+SFPQchr1

35643637

-
intron-5UTRENST00000487469ENST00000468598UGP2chr2

64085070

+SFPQchr1

35643637

-
intron-intronENST00000487469ENST00000357214UGP2chr2

64085070

+SFPQchr1

35643637

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for UGP2-SFPQ


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for UGP2-SFPQ


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:64085070/:35643637)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

P23246

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: DNA- and RNA binding protein, involved in several nuclear processes. Essential pre-mRNA splicing factor required early in spliceosome formation and for splicing catalytic step II, probably as a heteromer with NONO. Binds to pre-mRNA in spliceosome C complex, and specifically binds to intronic polypyrimidine tracts. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45, a phosphorylated form is sequestered by THRAP3 from the pre-mRNA in resting T-cells; T-cell activation and subsequent reduced phosphorylation is proposed to lead to release from THRAP3 allowing binding to pre-mRNA splicing regulatotry elements which represses exon inclusion. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3' side of U5 snRNA stem 1b. May be involved in a pre-mRNA coupled splicing and polyadenylation process as component of a snRNP-free complex with SNRPA/U1A. The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclear retention of defective RNAs. SFPQ may be involved in homologous DNA pairing; in vitro, promotes the invasion of ssDNA between a duplex DNA and produces a D-loop formation. The SFPQ-NONO heteromer may be involved in DNA unwinding by modulating the function of topoisomerase I/TOP1; in vitro, stimulates dissociation of TOP1 from DNA after cleavage and enhances its jumping between separate DNA helices. The SFPQ-NONO heteromer binds DNA (PubMed:25765647). The SFPQ-NONO heteromer may be involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination and may stabilize paired DNA ends; in vitro, the complex strongly stimulates DNA end joining, binds directly to the DNA substrates and cooperates with the Ku70/G22P1-Ku80/XRCC5 (Ku) dimer to establish a functional preligation complex. SFPQ is involved in transcriptional regulation. Functions as transcriptional activator (PubMed:25765647). Transcriptional repression is mediated by an interaction of SFPQ with SIN3A and subsequent recruitment of histone deacetylases (HDACs). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. SFPQ isoform Long binds to the DNA binding domains (DBD) of nuclear hormone receptors, like RXRA and probably THRA, and acts as transcriptional corepressor in absence of hormone ligands. Binds the DNA sequence 5'-CTGAGTC-3' in the insulin-like growth factor response element (IGFRE) and inhibits IGF-I-stimulated transcriptional activity. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation (By similarity). Required for the assembly of nuclear speckles (PubMed:25765647). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). {ECO:0000250|UniProtKB:Q8VIJ6, ECO:0000269|PubMed:10847580, ECO:0000269|PubMed:10858305, ECO:0000269|PubMed:10931916, ECO:0000269|PubMed:11259580, ECO:0000269|PubMed:11525732, ECO:0000269|PubMed:11897684, ECO:0000269|PubMed:15590677, ECO:0000269|PubMed:20932480, ECO:0000269|PubMed:25765647, ECO:0000269|PubMed:28712728, ECO:0000269|PubMed:8045264, ECO:0000269|PubMed:8449401}.

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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Fusion Gene Sequence for UGP2-SFPQ


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for UGP2-SFPQ


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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Related Drugs for UGP2-SFPQ


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneSFPQP23246DB09130CopperSmall moleculeApproved|Investigational
TgeneSFPQP23246DB09130CopperSmall moleculeApproved|Investigational

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Related Diseases for UGP2-SFPQ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUGP2C0036572Seizures1GENOMICS_ENGLAND
HgeneUGP2C0232466Feeding difficulties1GENOMICS_ENGLAND
HgeneUGP2C0557874Global developmental delay1GENOMICS_ENGLAND
HgeneUGP2C3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneUGP2C4025846Abnormality of vision1GENOMICS_ENGLAND
HgeneUGP2C4025871Abnormality of the face1GENOMICS_ENGLAND
TgeneC4518356MiT family translocation renal cell carcinoma2ORPHANET
TgeneC0019693HIV Infections1CTD_human
TgeneC0037274Dermatologic disorders1CTD_human
TgeneC0274861Arsenic Poisoning, Inorganic1CTD_human
TgeneC0274862Nervous System, Organic Arsenic Poisoning1CTD_human
TgeneC0311375Arsenic Poisoning1CTD_human
TgeneC0751851Arsenic Encephalopathy1CTD_human
TgeneC0751852Arsenic Induced Polyneuropathy1CTD_human
TgeneC4505456HIV Coinfection1CTD_human