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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:OSBPL8-PTPRQ

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: OSBPL8-PTPRQ
FusionPDB ID: 61855
FusionGDB2.0 ID: 61855
HgeneTgene
Gene symbol

OSBPL8

PTPRQ

Gene ID

114882

374462

Gene nameoxysterol binding protein like 8protein tyrosine phosphatase receptor type Q
SynonymsMST120|MSTP120|ORP8|OSBP10DFNA73|DFNB84|DFNB84A|PTPGMC1|R-PTP-Q
Cytomap

12q21.2

12q21.31

Type of geneprotein-codingprotein-coding
Descriptionoxysterol-binding protein-related protein 8OSBP-related protein 8phosphatidylinositol phosphatase PTPRQphosphotidylinositol phosphatase PTPRQprotein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000261183, ENST00000393249, 
ENST00000393250, ENST00000552178, 
ENST00000547485, ENST00000266688, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score20 X 9 X 5=9007 X 6 X 3=126
# samples 186
** MAII scorelog2(18/900*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/126*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: OSBPL8 [Title/Abstract] AND PTPRQ [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)OSBPL8(76844631)-PTPRQ(80998838), # samples:2
Anticipated loss of major functional domain due to fusion event.OSBPL8-PTPRQ 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.
OSBPL8-PTPRQ 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.
OSBPL8-PTPRQ 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.
OSBPL8-PTPRQ 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.
OSBPL8-PTPRQ seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
OSBPL8-PTPRQ seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneOSBPL8

GO:0010891

negative regulation of sequestering of triglyceride

23028956

HgeneOSBPL8

GO:0015914

phospholipid transport

26206935

HgeneOSBPL8

GO:0045444

fat cell differentiation

23028956

TgenePTPRQ

GO:0045598

regulation of fat cell differentiation

19351528


check buttonFusion gene breakpoints across OSBPL8 (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 PTPRQ (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
ChimerDB4SARCTCGA-FX-A3NK-01AOSBPL8chr12

76844631

-PTPRQchr12

80998838

+
ChimerDB4SARCTCGA-QC-AA9N-01AOSBPL8chr12

76844631

-PTPRQchr12

80998838

+


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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)
ENST00000393249OSBPL8chr1276844631-ENST00000266688PTPRQchr1280998838+27935023962792798
ENST00000261183OSBPL8chr1276844631-ENST00000266688PTPRQchr1280998838+29886972822987901

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
ENST00000393249ENST00000266688OSBPL8chr1276844631-PTPRQchr1280998838+0.0016637210.99833626
ENST00000261183ENST00000266688OSBPL8chr1276844631-PTPRQchr1280998838+0.0012636290.99873644

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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

>61855_61855_1_OSBPL8-PTPRQ_OSBPL8_chr12_76844631_ENST00000261183_PTPRQ_chr12_80998838_ENST00000266688_length(amino acids)=901AA_BP=138
MPPTTAAERSWGLTRRLRGLGPRRRGDLGGTGSLRPASLGAPHGICRFTEWLHINGKRSINLSSFIMEGGLADGEPDRTSLLGDSKDVLG
PSTVVANSDESQLLTPGKMSQRQGKEAYPTPTKDLHQPSLSPASPHSQAPDGPPENVHVVATSPFSISISWSEPAVITGPTCYLIDVKSV
DNDEFNISFIKSNEENKTIEIKDLEIFTRYSVVITAFTGNISAAYVEGKSSAEMIVTTLESAPKDPPNNMTFQKIPDEVTKFQLTFLPPS
QPNGNIQVYQALVYREDDPTAVQIHNLSIIQKTNTFVIAMLEGLKGGHTYNISVYAVNSAGAGPKVPMRITMDIKAPARPKTKPTPIYDA
TGKLLVTSTTITIRMPICYYSDDHGPIKNVQVLVTETGAQHDGNVTKWYDAYFNKARPYFTNEGFPNPPCTEGKTKFSGNEEIYIIGADN
ACMIPGNEDKICNGPLKPKKQYLFKFRATNIMGQFTDSDYSDPVKTLGEGLSERTVEIILSVTLCILSIILLGTAIFAFARIRQKQKEGG
TYSPQDAEIIDTKLKLDQLITVADLELKDERLTRLLSYRKSIKPISKKSFLQHVEELCTNNNLKFQEEFSELPKFLQDLSSTDADLPWNR
AKNRFPNIKPYNNNRVKLIADASVPGSDYINASYISGYLCPNEFIATQGPLPGTVGDFWRMVWETRAKTLVMLTQCFEKGRIRCHQYWPE
DNKPVTVFGDIVITKLMEDVQIDWTIRDLKIERHGDCMTVRQCNFTAWPEHGVPENSAPLIHFVKLVRASRAHDTTPMIVHCSAGVGRTG
VFIALDHLTQHINDHDFVDIYGLVAELRSERMCMVQNLAQYIFLHQCILDLLSNKGSNQPICFVNYSALQKMDSLDAMEGDVELEWEETT

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>61855_61855_2_OSBPL8-PTPRQ_OSBPL8_chr12_76844631_ENST00000393249_PTPRQ_chr12_80998838_ENST00000266688_length(amino acids)=798AA_BP=35
MTPGKMSQRQGKEAYPTPTKDLHQPSLSPASPHSQAPDGPPENVHVVATSPFSISISWSEPAVITGPTCYLIDVKSVDNDEFNISFIKSN
EENKTIEIKDLEIFTRYSVVITAFTGNISAAYVEGKSSAEMIVTTLESAPKDPPNNMTFQKIPDEVTKFQLTFLPPSQPNGNIQVYQALV
YREDDPTAVQIHNLSIIQKTNTFVIAMLEGLKGGHTYNISVYAVNSAGAGPKVPMRITMDIKAPARPKTKPTPIYDATGKLLVTSTTITI
RMPICYYSDDHGPIKNVQVLVTETGAQHDGNVTKWYDAYFNKARPYFTNEGFPNPPCTEGKTKFSGNEEIYIIGADNACMIPGNEDKICN
GPLKPKKQYLFKFRATNIMGQFTDSDYSDPVKTLGEGLSERTVEIILSVTLCILSIILLGTAIFAFARIRQKQKEGGTYSPQDAEIIDTK
LKLDQLITVADLELKDERLTRLLSYRKSIKPISKKSFLQHVEELCTNNNLKFQEEFSELPKFLQDLSSTDADLPWNRAKNRFPNIKPYNN
NRVKLIADASVPGSDYINASYISGYLCPNEFIATQGPLPGTVGDFWRMVWETRAKTLVMLTQCFEKGRIRCHQYWPEDNKPVTVFGDIVI
TKLMEDVQIDWTIRDLKIERHGDCMTVRQCNFTAWPEHGVPENSAPLIHFVKLVRASRAHDTTPMIVHCSAGVGRTGVFIALDHLTQHIN

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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/chr12:76844631/chr12:80998838)
- 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
TgenePTPRQchr12:76844631chr12:80998838ENST0000026668830501583_16811532.33333333333332296.0DomainFibronectin type-III 17
TgenePTPRQchr12:76844631chr12:80998838ENST0000026668830501686_17871532.33333333333332296.0DomainFibronectin type-III 18
TgenePTPRQchr12:76844631chr12:80998838ENST0000026668830502036_22921532.33333333333332296.0DomainTyrosine-protein phosphatase
TgenePTPRQchr12:76844631chr12:80998838ENST0000026668830501969_23321532.33333333333332296.0Topological domainCytoplasmic
TgenePTPRQchr12:76844631chr12:80998838ENST0000026668830501948_19681532.33333333333332296.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneOSBPL8chr12:76844631chr12:80998838ENST00000261183-424148_26572.33333333333333890.0DomainPH
HgeneOSBPL8chr12:76844631chr12:80998838ENST00000393249-626148_26530.333333333333332848.0DomainPH
HgeneOSBPL8chr12:76844631chr12:80998838ENST00000393250-323148_26530.333333333333332848.0DomainPH
HgeneOSBPL8chr12:76844631chr12:80998838ENST00000261183-424420_42572.33333333333333890.0RegionPhosphatidylserine binding
HgeneOSBPL8chr12:76844631chr12:80998838ENST00000261183-424482_48572.33333333333333890.0RegionPhosphatidylinositol 4-phosphate binding
HgeneOSBPL8chr12:76844631chr12:80998838ENST00000393249-626420_42530.333333333333332848.0RegionPhosphatidylserine binding
HgeneOSBPL8chr12:76844631chr12:80998838ENST00000393249-626482_48530.333333333333332848.0RegionPhosphatidylinositol 4-phosphate binding
HgeneOSBPL8chr12:76844631chr12:80998838ENST00000393250-323420_42530.333333333333332848.0RegionPhosphatidylserine binding
HgeneOSBPL8chr12:76844631chr12:80998838ENST00000393250-323482_48530.333333333333332848.0RegionPhosphatidylinositol 4-phosphate binding
HgeneOSBPL8chr12:76844631chr12:80998838ENST00000261183-424871_88872.33333333333333890.0TransmembraneHelical
HgeneOSBPL8chr12:76844631chr12:80998838ENST00000393249-626871_88830.333333333333332848.0TransmembraneHelical
HgeneOSBPL8chr12:76844631chr12:80998838ENST00000393250-323871_88830.333333333333332848.0TransmembraneHelical
TgenePTPRQchr12:76844631chr12:80998838ENST000002666883050100_1951532.33333333333332296.0DomainFibronectin type-III 2
TgenePTPRQchr12:76844631chr12:80998838ENST0000026668830501098_11901532.33333333333332296.0DomainFibronectin type-III 12
TgenePTPRQchr12:76844631chr12:80998838ENST0000026668830501192_12821532.33333333333332296.0DomainFibronectin type-III 13
TgenePTPRQchr12:76844631chr12:80998838ENST0000026668830501287_13801532.33333333333332296.0DomainFibronectin type-III 14
TgenePTPRQchr12:76844631chr12:80998838ENST0000026668830501384_14701532.33333333333332296.0DomainFibronectin type-III 15
TgenePTPRQchr12:76844631chr12:80998838ENST0000026668830501474_15781532.33333333333332296.0DomainFibronectin type-III 16
TgenePTPRQchr12:76844631chr12:80998838ENST000002666883050199_2941532.33333333333332296.0DomainFibronectin type-III 3
TgenePTPRQchr12:76844631chr12:80998838ENST000002666883050350_4381532.33333333333332296.0DomainFibronectin type-III 4
TgenePTPRQchr12:76844631chr12:80998838ENST00000266688305036_991532.33333333333332296.0DomainFibronectin type-III 1
TgenePTPRQchr12:76844631chr12:80998838ENST000002666883050441_5391532.33333333333332296.0DomainFibronectin type-III 5
TgenePTPRQchr12:76844631chr12:80998838ENST000002666883050514_6061532.33333333333332296.0DomainFibronectin type-III 6
TgenePTPRQchr12:76844631chr12:80998838ENST000002666883050610_7051532.33333333333332296.0DomainFibronectin type-III 7
TgenePTPRQchr12:76844631chr12:80998838ENST000002666883050710_7991532.33333333333332296.0DomainFibronectin type-III 8
TgenePTPRQchr12:76844631chr12:80998838ENST000002666883050804_8941532.33333333333332296.0DomainFibronectin type-III 9
TgenePTPRQchr12:76844631chr12:80998838ENST000002666883050899_9881532.33333333333332296.0DomainFibronectin type-III 10
TgenePTPRQchr12:76844631chr12:80998838ENST000002666883050993_10931532.33333333333332296.0DomainFibronectin type-III 11
TgenePTPRQchr12:76844631chr12:80998838ENST00000266688305036_19471532.33333333333332296.0Topological domainExtracellular


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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 >>>1692_OSBPL8_76844631_PTPRQ_80998838_ranked_0.pdbOSBPL87684463176844631ENST00000266688PTPRQchr1280998838+
MPPTTAAERSWGLTRRLRGLGPRRRGDLGGTGSLRPASLGAPHGICRFTEWLHINGKRSINLSSFIMEGGLADGEPDRTSLLGDSKDVLG
PSTVVANSDESQLLTPGKMSQRQGKEAYPTPTKDLHQPSLSPASPHSQAPDGPPENVHVVATSPFSISISWSEPAVITGPTCYLIDVKSV
DNDEFNISFIKSNEENKTIEIKDLEIFTRYSVVITAFTGNISAAYVEGKSSAEMIVTTLESAPKDPPNNMTFQKIPDEVTKFQLTFLPPS
QPNGNIQVYQALVYREDDPTAVQIHNLSIIQKTNTFVIAMLEGLKGGHTYNISVYAVNSAGAGPKVPMRITMDIKAPARPKTKPTPIYDA
TGKLLVTSTTITIRMPICYYSDDHGPIKNVQVLVTETGAQHDGNVTKWYDAYFNKARPYFTNEGFPNPPCTEGKTKFSGNEEIYIIGADN
ACMIPGNEDKICNGPLKPKKQYLFKFRATNIMGQFTDSDYSDPVKTLGEGLSERTVEIILSVTLCILSIILLGTAIFAFARIRQKQKEGG
TYSPQDAEIIDTKLKLDQLITVADLELKDERLTRLLSYRKSIKPISKKSFLQHVEELCTNNNLKFQEEFSELPKFLQDLSSTDADLPWNR
AKNRFPNIKPYNNNRVKLIADASVPGSDYINASYISGYLCPNEFIATQGPLPGTVGDFWRMVWETRAKTLVMLTQCFEKGRIRCHQYWPE
DNKPVTVFGDIVITKLMEDVQIDWTIRDLKIERHGDCMTVRQCNFTAWPEHGVPENSAPLIHFVKLVRASRAHDTTPMIVHCSAGVGRTG
VFIALDHLTQHINDHDFVDIYGLVAELRSERMCMVQNLAQYIFLHQCILDLLSNKGSNQPICFVNYSALQKMDSLDAMEGDVELEWEETT
901


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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.
OSBPL8_pLDDT.png
all structure
all structure
PTPRQ_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
OSBPL8
PTPRQ


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 OSBPL8-PTPRQ


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 OSBPL8-PTPRQ


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