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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:OSBPL3-AOC1 (FusionGDB2 ID:61817)

Fusion Gene Summary for OSBPL3-AOC1

check button Fusion gene summary
Fusion gene informationFusion gene name: OSBPL3-AOC1
Fusion gene ID: 61817
HgeneTgene
Gene symbol

OSBPL3

AOC1

Gene ID

26031

26

Gene nameoxysterol binding protein like 3amine oxidase copper containing 1
SynonymsORP-3|ORP3|OSBP3ABP|ABP1|DAO|DAO1|KAO
Cytomap

7p15.3

7q36.1

Type of geneprotein-codingprotein-coding
Descriptionoxysterol-binding protein-related protein 3OSBP-related protein 3amiloride-sensitive amine oxidase [copper-containing]amiloride binding protein 1 (amine oxidase (copper-containing))amiloride-binding protein 1amiloride-sensitive amine oxidaseamine oxidase copper domain-containing protein 1diamine oxidasehistaminas
Modification date2020031320200313
UniProtAcc.

P19801

Ensembl transtripts involved in fusion geneENST00000313367, ENST00000352860, 
ENST00000353930, ENST00000431825, 
ENST00000396429, ENST00000396431, 
ENST00000409069, ENST00000487020, 
ENST00000360937, ENST00000416793, 
ENST00000467291, ENST00000493429, 
ENST00000480582, 
Fusion gene scores* DoF score10 X 5 X 6=3003 X 2 X 3=18
# samples 93
** MAII scorelog2(9/300*10)=-1.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: OSBPL3 [Title/Abstract] AND AOC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointOSBPL3(25019505)-AOC1(150553543), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneAOC1

GO:0035874

cellular response to copper ion starvation

9399025

TgeneAOC1

GO:0042493

response to drug

8144586

TgeneAOC1

GO:0046677

response to antibiotic

7626074|19764817

TgeneAOC1

GO:0055114

oxidation-reduction process

8144586|16846222

TgeneAOC1

GO:0071280

cellular response to copper ion

9399025

TgeneAOC1

GO:0071420

cellular response to histamine

12072962

TgeneAOC1

GO:0097185

cellular response to azide

16846222


check buttonFusion gene breakpoints across OSBPL3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across AOC1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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-DX-A8BR-01AOSBPL3chr7

25019505

-AOC1chr7

150553543

+


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Fusion Gene ORF analysis for OSBPL3-AOC1

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
5UTR-5UTRENST00000313367ENST00000360937OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000313367ENST00000416793OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000313367ENST00000467291OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000313367ENST00000493429OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000352860ENST00000360937OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000352860ENST00000416793OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000352860ENST00000467291OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000352860ENST00000493429OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000353930ENST00000360937OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000353930ENST00000416793OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000353930ENST00000467291OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000353930ENST00000493429OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000431825ENST00000360937OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000431825ENST00000416793OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000431825ENST00000467291OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-5UTRENST00000431825ENST00000493429OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-intronENST00000313367ENST00000480582OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-intronENST00000352860ENST00000480582OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-intronENST00000353930ENST00000480582OSBPL3chr7

25019505

-AOC1chr7

150553543

+
5UTR-intronENST00000431825ENST00000480582OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000396429ENST00000360937OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000396429ENST00000416793OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000396429ENST00000467291OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000396429ENST00000493429OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000396431ENST00000360937OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000396431ENST00000416793OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000396431ENST00000467291OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000396431ENST00000493429OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000409069ENST00000360937OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000409069ENST00000416793OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000409069ENST00000467291OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000409069ENST00000493429OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000487020ENST00000360937OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000487020ENST00000416793OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000487020ENST00000467291OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-5UTRENST00000487020ENST00000493429OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-intronENST00000396429ENST00000480582OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-intronENST00000396431ENST00000480582OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-intronENST00000409069ENST00000480582OSBPL3chr7

25019505

-AOC1chr7

150553543

+
intron-intronENST00000487020ENST00000480582OSBPL3chr7

25019505

-AOC1chr7

150553543

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

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

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Fusion Genomic Features for OSBPL3-AOC1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
OSBPL3chr725019504-AOC1chr7150553542+6.49E-070.9999994
OSBPL3chr725019504-AOC1chr7150553542+6.49E-070.9999994

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for OSBPL3-AOC1


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/:25019505/:150553543)
- 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
.AOC1

P19801

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function.

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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Fusion Gene Sequence for OSBPL3-AOC1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for OSBPL3-AOC1


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


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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Related Drugs for OSBPL3-AOC1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for OSBPL3-AOC1


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