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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:OSBP-GIF

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: OSBP-GIF
FusionPDB ID: 61763
FusionGDB2.0 ID: 61763
HgeneTgene
Gene symbol

OSBP

GIF

Gene ID

5007

4504

Gene nameoxysterol binding proteinmetallothionein 3
SynonymsOSBP1GIF|GIFB|GRIF|ZnMT3
Cytomap

11q12.1

16q13

Type of geneprotein-codingprotein-coding
Descriptionoxysterol-binding protein 1metallothionein-3growth inhibitory factormetallothionein 3 (growth inhibitory factor (neurotrophic))metallothionein-III
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000263847, ENST00000257248, 
ENST00000541311, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 4 X 3=365 X 5 X 3=75
# samples 46
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: OSBP [Title/Abstract] AND GIF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)OSBP(59361077)-GIF(59597018), # samples:3
Anticipated loss of major functional domain due to fusion event.OSBP-GIF seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
OSBP-GIF seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
OSBP-GIF seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
OSBP-GIF seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
OSBP-GIF seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
OSBP-GIF seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneOSBP

GO:0015918

sterol transport

24209621

TgeneGIF

GO:0001666

response to hypoxia

12763630

TgeneGIF

GO:0001934

positive regulation of protein phosphorylation

18295594

TgeneGIF

GO:0010628

positive regulation of gene expression

18295594

TgeneGIF

GO:0010940

positive regulation of necrotic cell death

15129022|16387743

TgeneGIF

GO:0010942

positive regulation of cell death

16387743

TgeneGIF

GO:0019430

removal of superoxide radicals

12383939

TgeneGIF

GO:0030308

negative regulation of cell growth

16601975|17712581

TgeneGIF

GO:0030517

negative regulation of axon extension

16601975|17712581

TgeneGIF

GO:0030949

positive regulation of vascular endothelial growth factor receptor signaling pathway

18295594

TgeneGIF

GO:0032148

activation of protein kinase B activity

18295594

TgeneGIF

GO:0035690

cellular response to drug

19536566

TgeneGIF

GO:0036091

positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress

18554677

TgeneGIF

GO:0043066

negative regulation of apoptotic process

15129022|18554677

TgeneGIF

GO:0043154

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process

16387743

TgeneGIF

GO:0043491

protein kinase B signaling

18554677

TgeneGIF

GO:0045893

positive regulation of transcription, DNA-templated

18295594

TgeneGIF

GO:0050821

protein stabilization

18295594

TgeneGIF

GO:0051354

negative regulation of oxidoreductase activity

21320589

TgeneGIF

GO:0055069

zinc ion homeostasis

18157556

TgeneGIF

GO:0055073

cadmium ion homeostasis

18157556

TgeneGIF

GO:0060547

negative regulation of necrotic cell death

18554677

TgeneGIF

GO:0070371

ERK1 and ERK2 cascade

18554677

TgeneGIF

GO:0070374

positive regulation of ERK1 and ERK2 cascade

18295594

TgeneGIF

GO:0071276

cellular response to cadmium ion

16387743

TgeneGIF

GO:0071732

cellular response to nitric oxide

18157556

TgeneGIF

GO:2000117

negative regulation of cysteine-type endopeptidase activity

18554677

TgeneGIF

GO:2000378

negative regulation of reactive oxygen species metabolic process

18554677


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


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4ESCATCGA-R6-A8W5-01BOSBPchr11

59361077

-GIFchr11

59597018

-
ChimerDB4ESCATCGA-R6-A8W5OSBPchr11

59361076

-GIFchr11

59597018

-
ChimerDB4ESCATCGA-R6-A8W5OSBPchr11

59361077

-GIFchr11

59597018

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000263847OSBPchr1159361077-ENST00000541311GIFchr1159597018-242921584802219579
ENST00000263847OSBPchr1159361076-ENST00000541311GIFchr1159597018-242921584802219579

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
ENST00000263847ENST00000541311OSBPchr1159361077-GIFchr1159597018-0.0134794060.98652065
ENST00000263847ENST00000541311OSBPchr1159361076-GIFchr1159597018-0.0134794060.98652065

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>61763_61763_1_OSBP-GIF_OSBP_chr11_59361076_ENST00000263847_GIF_chr11_59597018_ENST00000541311_length(amino acids)=579AA_BP=559
MAATELRGVVGPGPAAIAALGGGGAGPPVVGGGGGRGDAGPGSGAASGTVVAAAAGGPGPGAGGVAAAGPAPAPPTGGSGGSGAGGSGSA
REGWLFKWTNYIKGYQRRWFVLSNGLLSYYRSKAEMRHTCRGTINLATANITVEDSCNFIISNGGAQTYHLKASSEVERQRWVTALELAK
AKAVKMLAESDESGDEESVSQTDKTELQNTLRTLSSKVEDLSTCNDLIAKHGTALQRSLSELESLKLPAESNEKIKQVNERATLFRITSN
AMINACRDFLMLAQTHSKKWQKSLQYERDQRIRLEETLEQLAKQHNHLERAFRGATVLPANTPGNVGSGKDQCCSGKGDMSDEDDENEFF
DAPEIITMPENLGHKRTGSNISGASSDISLDEQYKHQLEETKKEKRTRIPYKPNYSLNLWSIMKNCIGKELSKIPMPVNFNEPLSMLQRL
TEDLEYHELLDRAAKCENSLEQLCYVAAFTVSSYSTTVFRTSKPFNPLLGETFELDRLEENGYRSLCEQVSHHPPAAAHHAESKNGWTLR

--------------------------------------------------------------

>61763_61763_2_OSBP-GIF_OSBP_chr11_59361077_ENST00000263847_GIF_chr11_59597018_ENST00000541311_length(amino acids)=579AA_BP=559
MAATELRGVVGPGPAAIAALGGGGAGPPVVGGGGGRGDAGPGSGAASGTVVAAAAGGPGPGAGGVAAAGPAPAPPTGGSGGSGAGGSGSA
REGWLFKWTNYIKGYQRRWFVLSNGLLSYYRSKAEMRHTCRGTINLATANITVEDSCNFIISNGGAQTYHLKASSEVERQRWVTALELAK
AKAVKMLAESDESGDEESVSQTDKTELQNTLRTLSSKVEDLSTCNDLIAKHGTALQRSLSELESLKLPAESNEKIKQVNERATLFRITSN
AMINACRDFLMLAQTHSKKWQKSLQYERDQRIRLEETLEQLAKQHNHLERAFRGATVLPANTPGNVGSGKDQCCSGKGDMSDEDDENEFF
DAPEIITMPENLGHKRTGSNISGASSDISLDEQYKHQLEETKKEKRTRIPYKPNYSLNLWSIMKNCIGKELSKIPMPVNFNEPLSMLQRL
TEDLEYHELLDRAAKCENSLEQLCYVAAFTVSSYSTTVFRTSKPFNPLLGETFELDRLEENGYRSLCEQVSHHPPAAAHHAESKNGWTLR

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr11:59361077/chr11:59597018)
- 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
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneOSBPchr11:59361076chr11:59597018ENST00000263847-914291_326559.3333333333334808.0Coiled coilOntology_term=ECO:0000255
HgeneOSBPchr11:59361077chr11:59597018ENST00000263847-914291_326559.3333333333334808.0Coiled coilOntology_term=ECO:0000255
HgeneOSBPchr11:59361076chr11:59597018ENST00000263847-9141_93559.3333333333334808.0Compositional biasNote=Ala/Gly-rich
HgeneOSBPchr11:59361077chr11:59597018ENST00000263847-9141_93559.3333333333334808.0Compositional biasNote=Ala/Gly-rich
HgeneOSBPchr11:59361076chr11:59597018ENST00000263847-91488_181559.3333333333334808.0DomainPH
HgeneOSBPchr11:59361077chr11:59597018ENST00000263847-91488_181559.3333333333334808.0DomainPH
HgeneOSBPchr11:59361076chr11:59597018ENST00000263847-914358_364559.3333333333334808.0MotifFFAT
HgeneOSBPchr11:59361077chr11:59597018ENST00000263847-914358_364559.3333333333334808.0MotifFFAT
HgeneOSBPchr11:59361076chr11:59597018ENST00000263847-914117_122559.3333333333334808.0RegionPhosphatidylinositol 4-phosphate binding
HgeneOSBPchr11:59361076chr11:59597018ENST00000263847-914406_457559.3333333333334808.0RegionSterol binding
HgeneOSBPchr11:59361076chr11:59597018ENST00000263847-914493_496559.3333333333334808.0RegionPhosphatidylinositol 4-phosphate binding
HgeneOSBPchr11:59361076chr11:59597018ENST00000263847-914522_523559.3333333333334808.0RegionPhosphatidylinositol 4-phosphate binding
HgeneOSBPchr11:59361077chr11:59597018ENST00000263847-914117_122559.3333333333334808.0RegionPhosphatidylinositol 4-phosphate binding
HgeneOSBPchr11:59361077chr11:59597018ENST00000263847-914406_457559.3333333333334808.0RegionSterol binding
HgeneOSBPchr11:59361077chr11:59597018ENST00000263847-914493_496559.3333333333334808.0RegionPhosphatidylinositol 4-phosphate binding
HgeneOSBPchr11:59361077chr11:59597018ENST00000263847-914522_523559.3333333333334808.0RegionPhosphatidylinositol 4-phosphate binding
TgeneGIFchr11:59361076chr11:59597018ENST0000054131179386_395372.3333333333333393.0RegionNote=Cob(II)alamin binding
TgeneGIFchr11:59361077chr11:59597018ENST0000054131179386_395372.3333333333333393.0RegionNote=Cob(II)alamin binding

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneOSBPchr11:59361076chr11:59597018ENST00000263847-914730_760559.3333333333334808.0Coiled coilOntology_term=ECO:0000255
HgeneOSBPchr11:59361077chr11:59597018ENST00000263847-914730_760559.3333333333334808.0Coiled coilOntology_term=ECO:0000255
TgeneGIFchr11:59361076chr11:59597018ENST0000025724879365_370397.3333333333333418.0RegionNote=Cob(II)alamin binding
TgeneGIFchr11:59361076chr11:59597018ENST0000025724879386_395397.3333333333333418.0RegionNote=Cob(II)alamin binding
TgeneGIFchr11:59361076chr11:59597018ENST0000054131179365_370372.3333333333333393.0RegionNote=Cob(II)alamin binding
TgeneGIFchr11:59361077chr11:59597018ENST0000025724879365_370397.3333333333333418.0RegionNote=Cob(II)alamin binding
TgeneGIFchr11:59361077chr11:59597018ENST0000025724879386_395397.3333333333333418.0RegionNote=Cob(II)alamin binding
TgeneGIFchr11:59361077chr11:59597018ENST0000054131179365_370372.3333333333333393.0RegionNote=Cob(II)alamin binding


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>1235_OSBP_59361077_GIF_59597018_1235_OSBP_59361077_GIF_59597018_ranked_0.pdbOSBP5936107659361077ENST00000541311GIFchr1159597018-
MAATELRGVVGPGPAAIAALGGGGAGPPVVGGGGGRGDAGPGSGAASGTVVAAAAGGPGPGAGGVAAAGPAPAPPTGGSGGSGAGGSGSA
REGWLFKWTNYIKGYQRRWFVLSNGLLSYYRSKAEMRHTCRGTINLATANITVEDSCNFIISNGGAQTYHLKASSEVERQRWVTALELAK
AKAVKMLAESDESGDEESVSQTDKTELQNTLRTLSSKVEDLSTCNDLIAKHGTALQRSLSELESLKLPAESNEKIKQVNERATLFRITSN
AMINACRDFLMLAQTHSKKWQKSLQYERDQRIRLEETLEQLAKQHNHLERAFRGATVLPANTPGNVGSGKDQCCSGKGDMSDEDDENEFF
DAPEIITMPENLGHKRTGSNISGASSDISLDEQYKHQLEETKKEKRTRIPYKPNYSLNLWSIMKNCIGKELSKIPMPVNFNEPLSMLQRL
TEDLEYHELLDRAAKCENSLEQLCYVAAFTVSSYSTTVFRTSKPFNPLLGETFELDRLEENGYRSLCEQVSHHPPAAAHHAESKNGWTLR
579


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
OSBP_pLDDT.png
all structure
all structure

all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
OSBP
GIF


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to OSBP-GIF


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to OSBP-GIF


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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