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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:SP3-OLA1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SP3-OLA1
FusionPDB ID: 85400
FusionGDB2.0 ID: 85400
HgeneTgene
Gene symbol

SP3

OLA1

Gene ID

6670

29789

Gene nameSp3 transcription factorObg like ATPase 1
SynonymsSPR2DOC45|GBP45|GTBP9|GTPBP9|PTD004
Cytomap

2q31.1

2q31.1

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor Sp3GC-binding transcription factor Sp3specificity protein 3obg-like ATPase 1DNA damage-regulated overexpressed in cancer 45 proteinGTP-binding protein 9 (putative)GTP-binding protein PTD004homologous yeast-44.2 protein
Modification date2020031320200313
UniProtAcc

Q02447

.
Ensembl transtripts involved in fusion geneENST idsENST00000310015, ENST00000418194, 
ENST00000455789, ENST00000483084, 
ENST00000344357, ENST00000409546, 
ENST00000428402, ENST00000392560, 
ENST00000284719, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score12 X 8 X 9=86414 X 8 X 7=784
# samples 1814
** MAII scorelog2(18/864*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/784*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SP3 [Title/Abstract] AND OLA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SP3(174819601)-OLA1(175006728), # samples:4
OLA1(175087761)-SP3(174820960), # samples:1
Anticipated loss of major functional domain due to fusion event.OLA1-SP3 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.
OLA1-SP3 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.
SP3-OLA1 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.
SP3-OLA1 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.
SP3-OLA1 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.
SP3-OLA1 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.
SP3-OLA1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
OLA1-SP3 seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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
HgeneSP3

GO:0006355

regulation of transcription, DNA-templated

12560508

HgeneSP3

GO:0045893

positive regulation of transcription, DNA-templated

12771217

TgeneOLA1

GO:0046034

ATP metabolic process

17430889


check buttonFusion gene breakpoints across SP3 (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 OLA1 (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
ChimerDB4BRCATCGA-AO-A12F-01ASP3chr2

174819601

-OLA1chr2

175006728

-
ChimerDB4CESCTCGA-DS-A3LQ-01ASP3chr2

174819601

-OLA1chr2

175006728

-


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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)
ENST00000310015SP3chr2174819601-ENST00000284719OLA1chr2175006728-596721705102987825
ENST00000418194SP3chr2174819601-ENST00000284719OLA1chr2175006728-561618193602636758

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
ENST00000310015ENST00000284719SP3chr2174819601-OLA1chr2175006728-0.0002176320.9997824
ENST00000418194ENST00000284719SP3chr2174819601-OLA1chr2175006728-0.000302240.9996978

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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

>85400_85400_1_SP3-OLA1_SP3_chr2_174819601_ENST00000310015_OLA1_chr2_175006728_ENST00000284719_length(amino acids)=825AA_BP=553
MRCPKHTMTAPEKPVKQEEMAALDVDSGGGGGGGGGHGEYLQQQQQHGNGAVAAAAAAQDTQPSPLALLAATCSKIGPPSPGDDEEEAAA
AAGAPAAAGATGDLASAQLGGAPNRWEVLSATPTTIKDEAGNLVQIPSAATSSGQYVLPLQNLQNQQIFSVAPGSDSSNGTVSSVQYQVI
PQIQSADGQQVQIGFTGSSDNGGINQESSQIQIIPGSNQTLLASGTPSANIQNLIPQTGQVQVQGVAIGGSSFPGQTQVVANVPLGLPGN
ITFVPINSVDLDSLGLSGSSQTMTAGINADGHLINTGQAMDSSDNSERTGERVSPDINETNTDTDLFVPTSSSSQLPVTIDSTGILQQNT
NSLTTSSGQVHSSDLQGNYIQSPVSEETQAQNIQVSTAQPVVQHLQLQESQQPTSQAQIVQGITPQTIHGVQASGQNISQQALQNLQLQL
NPGTFLIQAQTVTPSGQVTWQTFQVQGVQNLQNLQIQNTAAQQITLTPVQTLTLGQVAAGGAFTSTPVSLSTGQLPNLQTVTVNSIDSAG
IQLHPGENADSPAGAFEDDDITHVEGSVDPIRDIEIIHEELQLKDEEMIGPIIDKLEKVAVRGGDKKLKPEYDIMCKVKSWVIDQKKPVR
FYHDWNDKEIEVLNKHLFLTSKPMVYLVNLSEKDYIRKKNKWLIKIKEWVDKYDPGALVIPFSGALELKLQELSAEERQKYLEANMTQSA
LPKIIKAGFAALQLEYFFTAGPDEVRAWTIRKGTKAPQAAGKIHTDFEKGFIMAEVMKYEDFKEEGSENAVKAAGKYRQQGRNYIVEDGD

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

>85400_85400_2_SP3-OLA1_SP3_chr2_174819601_ENST00000418194_OLA1_chr2_175006728_ENST00000284719_length(amino acids)=758AA_BP=486
MLAATCSKIGPPSPGDDEEEAAAAAGAPAAAGATGDLASAQLGGAPNRWEVLSATPTTIKDEAGNLVQIPSAATSSGQYVLPLQNLQNQQ
IFSVAPGSDSSNGTVSSVQYQVIPQIQSADGQQVQIGFTGSSDNGGINQESSQIQIIPGSNQTLLASGTPSANIQNLIPQTGQVQVQGVA
IGGSSFPGQTQVVANVPLGLPGNITFVPINSVDLDSLGLSGSSQTMTAGINADGHLINTGQAMDSSDNSERTGERVSPDINETNTDTDLF
VPTSSSSQLPVTIDSTGILQQNTNSLTTSSGQVHSSDLQGNYIQSPVSEETQAQNIQVSTAQPVVQHLQLQESQQPTSQAQIVQGITPQT
IHGVQASGQNISQQALQNLQLQLNPGTFLIQAQTVTPSGQVTWQTFQVQGVQNLQNLQIQNTAAQQITLTPVQTLTLGQVAAGGAFTSTP
VSLSTGQLPNLQTVTVNSIDSAGIQLHPGENADSPAGAFEDDDITHVEGSVDPIRDIEIIHEELQLKDEEMIGPIIDKLEKVAVRGGDKK
LKPEYDIMCKVKSWVIDQKKPVRFYHDWNDKEIEVLNKHLFLTSKPMVYLVNLSEKDYIRKKNKWLIKIKEWVDKYDPGALVIPFSGALE
LKLQELSAEERQKYLEANMTQSALPKIIKAGFAALQLEYFFTAGPDEVRAWTIRKGTKAPQAAGKIHTDFEKGFIMAEVMKYEDFKEEGS

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

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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/chr2:174819601/chr2:175006728)
- 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
SP3

Q02447

.
FUNCTION: Transcriptional factor that can act as an activator or repressor depending on isoform and/or post-translational modifications. Binds to GT and GC boxes promoter elements. Competes with SP1 for the GC-box promoters. Weak activator of transcription but can activate a number of genes involved in different processes such as cell-cycle regulation, hormone-induction and house-keeping. {ECO:0000269|PubMed:10391891, ECO:0000269|PubMed:11812829, ECO:0000269|PubMed:12419227, ECO:0000269|PubMed:12837748, ECO:0000269|PubMed:15247228, ECO:0000269|PubMed:15494207, ECO:0000269|PubMed:15554904, ECO:0000269|PubMed:16781829, ECO:0000269|PubMed:17548428, ECO:0000269|PubMed:18187045, ECO:0000269|PubMed:18617891, ECO:0000269|PubMed:9278495}.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
HgeneSP3chr2:174819601chr2:175006728ENST00000310015-4721_31546.3333333333334782.0Compositional biasNote=Poly-Gly
HgeneSP3chr2:174819601chr2:175006728ENST00000310015-4735_39546.3333333333334782.0Compositional biasNote=Poly-Gln
HgeneSP3chr2:174819601chr2:175006728ENST00000310015-4744_100546.3333333333334782.0Compositional biasNote=Ala-rich
HgeneSP3chr2:174819601chr2:175006728ENST00000455789-3621_31493.3333333333333729.0Compositional biasNote=Poly-Gly
HgeneSP3chr2:174819601chr2:175006728ENST00000455789-3635_39493.3333333333333729.0Compositional biasNote=Poly-Gln
HgeneSP3chr2:174819601chr2:175006728ENST00000455789-3644_100493.3333333333333729.0Compositional biasNote=Ala-rich
HgeneSP3chr2:174819601chr2:175006728ENST00000310015-47461_469546.3333333333334782.0Motif9aaTAD
HgeneSP3chr2:174819601chr2:175006728ENST00000455789-36461_469493.3333333333333729.0Motif9aaTAD
HgeneSP3chr2:174819601chr2:175006728ENST00000310015-47138_237546.3333333333334782.0RegionNote=Transactivation domain (Gln-rich)
HgeneSP3chr2:174819601chr2:175006728ENST00000310015-47350_499546.3333333333334782.0RegionNote=Transactivation domain (Gln-rich)
HgeneSP3chr2:174819601chr2:175006728ENST00000455789-36138_237493.3333333333333729.0RegionNote=Transactivation domain (Gln-rich)
TgeneOLA1chr2:174819601chr2:175006728ENST00000284719311304_387124.33333333333333397.0DomainTGS
TgeneOLA1chr2:174819601chr2:175006728ENST0000034435721023_2830239.0DomainOBG-type G
TgeneOLA1chr2:174819601chr2:175006728ENST00000344357210304_3870239.0DomainTGS
TgeneOLA1chr2:174819601chr2:175006728ENST0000042840238304_387124.33333333333333279.0DomainTGS
TgeneOLA1chr2:174819601chr2:175006728ENST00000284719311267_274124.33333333333333397.0MotifNuclear export signal
TgeneOLA1chr2:174819601chr2:175006728ENST00000344357210267_2740239.0MotifNuclear export signal
TgeneOLA1chr2:174819601chr2:175006728ENST0000042840238267_274124.33333333333333279.0MotifNuclear export signal
TgeneOLA1chr2:174819601chr2:175006728ENST0000034435721032_370239.0Nucleotide bindingATP

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSP3chr2:174819601chr2:175006728ENST00000310015-47534_620546.3333333333334782.0RegionNote=Repressor domain
HgeneSP3chr2:174819601chr2:175006728ENST00000455789-36350_499493.3333333333333729.0RegionNote=Transactivation domain (Gln-rich)
HgeneSP3chr2:174819601chr2:175006728ENST00000455789-36534_620493.3333333333333729.0RegionNote=Repressor domain
HgeneSP3chr2:174819601chr2:175006728ENST00000310015-47621_645546.3333333333334782.0Zinc fingerC2H2-type 1
HgeneSP3chr2:174819601chr2:175006728ENST00000310015-47651_675546.3333333333334782.0Zinc fingerC2H2-type 2
HgeneSP3chr2:174819601chr2:175006728ENST00000310015-47681_703546.3333333333334782.0Zinc fingerC2H2-type 3
HgeneSP3chr2:174819601chr2:175006728ENST00000455789-36621_645493.3333333333333729.0Zinc fingerC2H2-type 1
HgeneSP3chr2:174819601chr2:175006728ENST00000455789-36651_675493.3333333333333729.0Zinc fingerC2H2-type 2
HgeneSP3chr2:174819601chr2:175006728ENST00000455789-36681_703493.3333333333333729.0Zinc fingerC2H2-type 3
TgeneOLA1chr2:174819601chr2:175006728ENST0000028471931123_283124.33333333333333397.0DomainOBG-type G
TgeneOLA1chr2:174819601chr2:175006728ENST000004284023823_283124.33333333333333279.0DomainOBG-type G
TgeneOLA1chr2:174819601chr2:175006728ENST0000028471931132_37124.33333333333333397.0Nucleotide bindingATP
TgeneOLA1chr2:174819601chr2:175006728ENST000004284023832_37124.33333333333333279.0Nucleotide bindingATP


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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 >>>1608_SP3_174819601_OLA1_175006728_ranked_0.pdbSP3174819601174819601ENST00000284719OLA1chr2175006728-
MRCPKHTMTAPEKPVKQEEMAALDVDSGGGGGGGGGHGEYLQQQQQHGNGAVAAAAAAQDTQPSPLALLAATCSKIGPPSPGDDEEEAAA
AAGAPAAAGATGDLASAQLGGAPNRWEVLSATPTTIKDEAGNLVQIPSAATSSGQYVLPLQNLQNQQIFSVAPGSDSSNGTVSSVQYQVI
PQIQSADGQQVQIGFTGSSDNGGINQESSQIQIIPGSNQTLLASGTPSANIQNLIPQTGQVQVQGVAIGGSSFPGQTQVVANVPLGLPGN
ITFVPINSVDLDSLGLSGSSQTMTAGINADGHLINTGQAMDSSDNSERTGERVSPDINETNTDTDLFVPTSSSSQLPVTIDSTGILQQNT
NSLTTSSGQVHSSDLQGNYIQSPVSEETQAQNIQVSTAQPVVQHLQLQESQQPTSQAQIVQGITPQTIHGVQASGQNISQQALQNLQLQL
NPGTFLIQAQTVTPSGQVTWQTFQVQGVQNLQNLQIQNTAAQQITLTPVQTLTLGQVAAGGAFTSTPVSLSTGQLPNLQTVTVNSIDSAG
IQLHPGENADSPAGAFEDDDITHVEGSVDPIRDIEIIHEELQLKDEEMIGPIIDKLEKVAVRGGDKKLKPEYDIMCKVKSWVIDQKKPVR
FYHDWNDKEIEVLNKHLFLTSKPMVYLVNLSEKDYIRKKNKWLIKIKEWVDKYDPGALVIPFSGALELKLQELSAEERQKYLEANMTQSA
LPKIIKAGFAALQLEYFFTAGPDEVRAWTIRKGTKAPQAAGKIHTDFEKGFIMAEVMKYEDFKEEGSENAVKAAGKYRQQGRNYIVEDGD
825


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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.
SP3_pLDDT.png
all structure
all structure
OLA1_pLDDT.png
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
SP3all structure
OLA1


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 SP3-OLA1


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 SP3-OLA1


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