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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 8122

FusionGeneSummary for COQ7_OSBPL2

check button Fusion gene summary
Fusion gene informationFusion gene name: COQ7_OSBPL2
Fusion gene ID: 8122
HgeneTgene
Gene symbol

COQ7

OSBPL2

Gene ID

10229

9885

Gene namecoenzyme Q7, hydroxylaseoxysterol binding protein like 2
SynonymsCAT5|CLK-1|CLK1|COQ10D8DFNA67|DNFA67|ORP-2|ORP2
Cytomap

16p12.3

20q13.33

Type of geneprotein-codingprotein-coding
Description5-demethoxyubiquinone hydroxylase, mitochondrialCOQ7 coenzyme Q, 7 homolog ubiquinoneDMQ hydroxylasecoenzyme Q biosynthesis protein 7 homologcoenzyme Q7 homolog, ubiquinoneplacental protein KG-20timing protein clk-1 homologubiquinone biosynthesis moxysterol-binding protein-related protein 2OSBP-related protein 2
Modification date2018052620180523
UniProtAcc

Q99807

Q9H1P3

Ensembl transtripts involved in fusion geneENST00000321998, ENST00000568985, 
ENST00000544894, ENST00000569127, 
ENST00000567314, 
ENST00000439951, 
ENST00000313733, ENST00000358053, 
ENST00000471817, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 5 X 5=150
# samples 17
** MAII scorelog2(1/1*10)=3.32192809488736log2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COQ7 [Title/Abstract] AND OSBPL2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-AR-A0TX-01ACOQ7chr16

19087182

+OSBPL2chr20

60831113

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-5UTRENST00000321998ENST00000439951COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-5UTRENST00000321998ENST00000313733COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-5UTRENST00000321998ENST00000358053COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-intronENST00000321998ENST00000471817COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-5UTRENST00000568985ENST00000439951COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-5UTRENST00000568985ENST00000313733COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-5UTRENST00000568985ENST00000358053COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-intronENST00000568985ENST00000471817COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-5UTRENST00000544894ENST00000439951COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-5UTRENST00000544894ENST00000313733COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-5UTRENST00000544894ENST00000358053COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-intronENST00000544894ENST00000471817COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-5UTRENST00000569127ENST00000439951COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-5UTRENST00000569127ENST00000313733COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-5UTRENST00000569127ENST00000358053COQ7chr16

19087182

+OSBPL2chr20

60831113

+
5CDS-intronENST00000569127ENST00000471817COQ7chr16

19087182

+OSBPL2chr20

60831113

+
intron-5UTRENST00000567314ENST00000439951COQ7chr16

19087182

+OSBPL2chr20

60831113

+
intron-5UTRENST00000567314ENST00000313733COQ7chr16

19087182

+OSBPL2chr20

60831113

+
intron-5UTRENST00000567314ENST00000358053COQ7chr16

19087182

+OSBPL2chr20

60831113

+
intron-intronENST00000567314ENST00000471817COQ7chr16

19087182

+OSBPL2chr20

60831113

+

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FusionProtFeatures for COQ7_OSBPL2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COQ7

Q99807

OSBPL2

Q9H1P3

Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis.Has also a structural role in the COQ enzyme complex, stabilizingother COQ polypeptides. Involved in lifespan determination in aubiquinone-independent manner. {ECO:0000255|HAMAP-Rule:MF_03194}. Binds phospholipids; exhibits strong binding tophosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (PubMed:11279184). Binds 25-hydroxycholesterol(PubMed:17428193). {ECO:0000269|PubMed:11279184,ECO:0000269|PubMed:17428193}.

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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FusionGeneSequence for COQ7_OSBPL2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for COQ7_OSBPL2


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
COQ7COQ9, COQ4, COQ7, BOLA3, COQ5, ADCK3, NRD1, CHCHD2, ADCK4, ECH1, CYCS, GLRX5, PITRM1, IDE, POLDIP2, PTPMT1, C1QBP, COQ3, PMPCA, ATP5C1, ATP5E, PMPCBOSBPL2ELAVL1, VAPB, APBB2, HNRNPD, SGTB, BAG6, VAPA, ZFPL1, BIRC6


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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RelatedDrugs for COQ7_OSBPL2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for COQ7_OSBPL2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOQ7C4225226COENZYME Q10 DEFICIENCY, PRIMARY, 81UNIPROT