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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: 25514

FusionGeneSummary for OSBP2_EFCAB6

check button Fusion gene summary
Fusion gene informationFusion gene name: OSBP2_EFCAB6
Fusion gene ID: 25514
HgeneTgene
Gene symbol

OSBP2

EFCAB6

Gene ID

23762

64800

Gene nameoxysterol binding protein 2EF-hand calcium binding domain 6
SynonymsHLM|ORP-4|ORP4|OSBPL1|OSBPL4DJBP|HSCBCIP1|dJ185D5.1
Cytomap

22q12.2

22q13.2-q13.31

Type of geneprotein-codingprotein-coding
Descriptionoxysterol-binding protein 2OSBP-related protein 4oxysterol binding protein-like 1oxysterol-binding protein-related protein 4EF-hand calcium-binding domain-containing protein 6CAP-binding protein complex-interacting protein 1DJ-1-binding protein
Modification date2018052320180523
UniProtAcc

Q969R2

Q5THR3

Ensembl transtripts involved in fusion geneENST00000403222, ENST00000407373, 
ENST00000332585, ENST00000382310, 
ENST00000446658, ENST00000401475, 
ENST00000437268, ENST00000535268, 
ENST00000496575, 		ENST00000396231, 
ENST00000262726, ENST00000358439, 
ENST00000356087, ENST00000461800, 
Fusion gene scores* DoF score7 X 4 X 7=1969 X 8 X 6=432
# samples 79
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/432*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: OSBP2 [Title/Abstract] AND EFCAB6 [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-A2-A1G0-01AOSBP2chr22

31289720

+EFCAB6chr22

44161273

-
* 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-5UTRENST00000403222ENST00000396231OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000403222ENST00000262726OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000403222ENST00000358439OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000403222ENST00000356087OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-intronENST00000403222ENST00000461800OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000407373ENST00000396231OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000407373ENST00000262726OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000407373ENST00000358439OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000407373ENST00000356087OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-intronENST00000407373ENST00000461800OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000332585ENST00000396231OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000332585ENST00000262726OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000332585ENST00000358439OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000332585ENST00000356087OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-intronENST00000332585ENST00000461800OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000382310ENST00000396231OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000382310ENST00000262726OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000382310ENST00000358439OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000382310ENST00000356087OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-intronENST00000382310ENST00000461800OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000446658ENST00000396231OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000446658ENST00000262726OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000446658ENST00000358439OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000446658ENST00000356087OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-intronENST00000446658ENST00000461800OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000401475ENST00000396231OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000401475ENST00000262726OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000401475ENST00000358439OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000401475ENST00000356087OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-intronENST00000401475ENST00000461800OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000437268ENST00000396231OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000437268ENST00000262726OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000437268ENST00000358439OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000437268ENST00000356087OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-intronENST00000437268ENST00000461800OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000535268ENST00000396231OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000535268ENST00000262726OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000535268ENST00000358439OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-5UTRENST00000535268ENST00000356087OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
5CDS-intronENST00000535268ENST00000461800OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
3UTR-5UTRENST00000496575ENST00000396231OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
3UTR-5UTRENST00000496575ENST00000262726OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
3UTR-5UTRENST00000496575ENST00000358439OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
3UTR-5UTRENST00000496575ENST00000356087OSBP2chr22

31289720

+EFCAB6chr22

44161273

-
3UTR-intronENST00000496575ENST00000461800OSBP2chr22

31289720

+EFCAB6chr22

44161273

-

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FusionProtFeatures for OSBP2_EFCAB6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
OSBP2

Q969R2

EFCAB6

Q5THR3


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 OSBP2_EFCAB6


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 OSBP2_EFCAB6


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
OSBP2VIM, TNNT1, ELAVL1, VAPB, LNX1, MOV10, NXF1, BTNL8, PTEN, RNASEH2A, VAPA, TRIM25EFCAB6PARK7, AR, HDAC1, SIN3A


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 OSBP2_EFCAB6


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 OSBP2_EFCAB6


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