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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:RPS25-GBF1 (FusionGDB2 ID:77699)

Fusion Gene Summary for RPS25-GBF1

check button Fusion gene summary
Fusion gene informationFusion gene name: RPS25-GBF1
Fusion gene ID: 77699
HgeneTgene
Gene symbol

RPS25

GBF1

Gene ID

6230

80142

Gene nameribosomal protein S25prostaglandin E synthase 2
SynonymsS25C9orf15|GBF-1|GBF1|PGES2|mPGES-2
Cytomap

11q23.3

9q34.11

Type of geneprotein-codingprotein-coding
Description40S ribosomal protein S25small ribosomal subunit protein eS25prostaglandin 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-isomerase
Modification date2020031320200313
UniProtAcc.

Q92538

Ensembl transtripts involved in fusion geneENST00000527673, ENST00000528547, 
ENST00000476019, ENST00000369983, 
Fusion gene scores* DoF score8 X 7 X 3=16812 X 12 X 4=576
# samples 1312
** MAII scorelog2(13/168*10)=-0.369949609750306
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/576*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPS25 [Title/Abstract] AND GBF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRPS25(118888668)-GBF1(104140263), # 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

check buttonFusion gene breakpoints across RPS25 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across GBF1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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-CD-8531-01ARPS25chr11

118888668

-GBF1chr10

104140263

+


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Fusion Gene ORF analysis for RPS25-GBF1

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-intronENST00000527673ENST00000476019RPS25chr11

118888668

-GBF1chr10

104140263

+
5UTR-3CDSENST00000528547ENST00000369983RPS25chr11

118888668

-GBF1chr10

104140263

+
5UTR-intronENST00000528547ENST00000476019RPS25chr11

118888668

-GBF1chr10

104140263

+
In-frameENST00000527673ENST00000369983RPS25chr11

118888668

-GBF1chr10

104140263

+

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)
ENST00000527673RPS25chr11118888668-ENST00000369983GBF1chr10104140263+16595054061095229

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
ENST00000527673ENST00000369983RPS25chr11118888668-GBF1chr10104140263+0.0126488610.9873511

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Fusion Genomic Features for RPS25-GBF1


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)
RPS25chr11118888667-GBF1chr10104140262+2.35E-081
RPS25chr11118888667-GBF1chr10104140262+2.35E-081

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for RPS25-GBF1


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/chr11:118888668/chr10:104140263)
- 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
.GBF1

Q92538

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: Guanine-nucleotide exchange factor (GEF) for members of the Arf family of small GTPases involved in trafficking in the early secretory pathway; its GEF activity initiates the coating of nascent vesicles via the localized generation of activated ARFs through replacement of GDP with GTP. Recruitment to cis-Golgi membranes requires membrane association of Arf-GDP and can be regulated by ARF1, ARF3, ARF4 and ARF5. Involved in the recruitment of the COPI coat complex to the endoplasmic reticulum exit sites (ERES), and the endoplasmic reticulum-Golgi intermediate (ERGIC) and cis-Golgi compartments which implicates ARF1 activation. Involved in COPI vesicle-dependent retrograde transport from the ERGIC and cis-Golgi compartments to the endoplasmic reticulum (ER) (PubMed:16926190, PubMed:17956946, PubMed:18003980, PubMed:12047556, PubMed:12808027, PubMed:19039328, PubMed:24213530). Involved in the trans-Golgi network recruitment of GGA1, GGA2, GGA3, BIG1, BIG2, and the AP-1 adapter protein complex related to chlathrin-dependent transport; the function requires its GEF activity (probably at least in part on ARF4 and ARF5) (PubMed:23386609). Has GEF activity towards ARF1 (PubMed:15616190). Has in vitro GEF activity towards ARF5 (By similarity). 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 in Golgi disassembly during mitotis and under stress conditions (PubMed:18063581, PubMed:23418352). May be involved in the COPI vesicle-dependent recruitment of PNPLA2 to lipid droplets; however, this function is under debate (PubMed:19461073, PubMed:22185782). In neutrophils, involved in G protein-coupled receptor (GPCR)-mediated chemotaxis und superoxide production. Proposed to be recruited by phosphatidylinositol-phosphates generated upon GPCR stimulation to the leading edge where it recruits and activates ARF1, and is involved in recruitment of GIT2 and the NADPH oxidase complex (PubMed:22573891). Plays a role in maintaining mitochondrial morphology (PubMed:25190516). {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:0000269|PubMed:25190516, ECO:0000305|PubMed:19039328, ECO:0000305|PubMed:22573891}.

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
TgeneGBF1chr11:118888668chr10:104140263ENST0000036998336401751_185416631860.0Compositional biasNote=Pro-rich

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneGBF1chr11:118888668chr10:104140263ENST000003699833640692_88216631860.0DomainSEC7
TgeneGBF1chr11:118888668chr10:104140263ENST000003699833640886_137016631860.0RegionPhosphatidylinositol-phosphate binding%3B required for translocation to the leading edge and for ARF1 activation upon GPCR signaling


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Fusion Gene Sequence for RPS25-GBF1


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.
>77699_77699_1_RPS25-GBF1_RPS25_chr11_118888668_ENST00000527673_GBF1_chr10_104140263_ENST00000369983_length(transcript)=1659nt_BP=505nt
TCCTCCTCCTCCTCCCGCGCCCCCCGTGCAGCCACCTGCTGCACTTGCGCACTGGGAGCGACACGCTCGGGCATAAGTAGTGCCGGAAAG
TTAGCTGCCGAGACCTGGTGGATTGCTTTTCGTTTATCAGTGCAGGAAAACAGCGCTATAGTATGCGTCACAACTAGCGCAGACTCCGGC
AGTATTTAGGCGGTGCGGCTTGGGAACTAGAATCCACTTCCTGTCTTCCGCCTCAGGCTAGAGGGCGAGCGCTTCGCCGTGGGACTTCTT
CTGCCTGGCTCCGCCTTTTGCCCCGGAAGTACTCACAGCGGACGGTGGTTTTTGGGCCCGTTTCTGAGCAGCGCTTCCTTTTTGTCCGAC
ATCTTGACGAGGCTGCGGTGTCTGCTGCTATTCTCCGAGCTTCGCAATGCCGCCTAAGGACGACAAGAAGAAGAAGGACGCTGGAAAGTC
GGCCAAGAAAGACAAAGACCCAGTGAACAAATCCGGGGGCAAGGCCAAAAAGAAGTCAGAGGCGATCCCTGAGTCTCTGAAGAACATGCT
TCTGGTGATGGACACAGCGGAGATTTTCCACAGTGCAGATGCACGGGGAGGCGGCCCCTCGGCCCTCTGGGAGATCACCTGGGAACGCAT
TGACTGTTTTCTCCCTCACCTACGAGATGAACTCTTCAAGCAGACCGTCATCCAGGACCCCATGCCCATGGAGCCTCAAGGCCAAAAGCC
TCTCGCCTCAGCCCACCTGACTTCCGCTGCTGGCGACACTAGGACACCTGGCCATCCACCGCCCCCAGAGATTCCATCTGAGCTGGGGGC
CTGTGACTTTGAGAAGCCCGAGAGCCCCCGAGCCGCCAGCAGCAGCTCCCCAGGATCACCAGTGGCCTCAAGCCCCAGCAGGCTGAGCCC
CACCCCCGACGGGCCTCCACCCTTGGCTCAGCCCCCACTGATCCTGCAGCCCTTGGCCTCCCCACTGCAGGTGGGCGTGCCACCTATGAC
TCTGCCCATCATCCTCAACCCTGCGCTCATCGAGGCCACCTCACCAGTGCCCCTCCTGGCCACACCCCGCCCCACAGATCCCATACCCAC
CTCTGAGGTCAACTAAGGCAGGTCACTCAGAGATCAGGACCAGTGCTTCCCACCAGGCTTTCCTTGACCCCACTTCTGGCTGTCCTGCGG
GCCACAAGCTCTTCAGGCCAAGTCAGAGCTGCTGTTGCTGCCACTTGGATGGGGACCTGAAAAAGAGAATGTTGATAGCCCCAGCTAAGA
CCCCCAATCAGCTGTGGGACCTTTTTCCTCCTCTGCGCTCCATTCCTGGGGGTTCAGCCTGAGAGTGAACTCAGCTGTCATCTGCAGCCT
CTGCCTCCAGCCCGGCAGCTCTGGGGAGGCATCCGTGTGCCGGCCCTGCAGTGCCTGCCCACGGTCAGGCATTGAAAACTAAGCCCAACC
ACTCTGCACTTTGTTTCCCACTCCCATTAGCCCTGGGCCACCTCCTCCAGTTCTTCCTCTTTTACTAATTAGTTGGTCAGTTTGGAGAGT
TGACTGGCACCATGGAGGGTAGGCAGGTGGGGGCTGGGTGGGGGACTGCCCACAGGAGCATGTACATATGGAAAAACAGAACAACAGTGG

>77699_77699_1_RPS25-GBF1_RPS25_chr11_118888668_ENST00000527673_GBF1_chr10_104140263_ENST00000369983_length(amino acids)=229AA_BP=33
MPPKDDKKKKDAGKSAKKDKDPVNKSGGKAKKKSEAIPESLKNMLLVMDTAEIFHSADARGGGPSALWEITWERIDCFLPHLRDELFKQT
VIQDPMPMEPQGQKPLASAHLTSAAGDTRTPGHPPPPEIPSELGACDFEKPESPRAASSSSPGSPVASSPSRLSPTPDGPPPLAQPPLIL

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Fusion Gene PPI Analysis for RPS25-GBF1


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
TgeneGBF1chr11:118888668chr10:104140263ENST0000036998336401_3801663.01860.0RAB1B


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 RPS25-GBF1


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

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Related Diseases for RPS25-GBF1


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