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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:ESR2-SCARB1 (FusionGDB2 ID:27558)

Fusion Gene Summary for ESR2-SCARB1

check button Fusion gene summary
Fusion gene informationFusion gene name: ESR2-SCARB1
Fusion gene ID: 27558
HgeneTgene
Gene symbol

ESR2

SCARB1

Gene ID

2100

949

Gene nameestrogen receptor 2scavenger receptor class B member 1
SynonymsER-BETA|ESR-BETA|ESRB|ESTRB|Erb|NR3A2|ODG8CD36L1|CLA-1|CLA1|HDLQTL6|SR-BI|SRB1
Cytomap

14q23.2-q23.3

12q24.31

Type of geneprotein-codingprotein-coding
Descriptionestrogen receptor betaestrogen receptor beta 4estrogen receptor beta splice variant, ERbeta2delta7estrogen receptor beta splice variant, ERbeta4delta7estrogen receptor beta splice variant, ERbeta6estrogen receptor beta splice variant, ERbeta6delta7escavenger receptor class B member 1CD36 and LIMPII analogous 1CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1scavenger receptor class B type III
Modification date2020032220200313
UniProtAcc

Q92731

.
Ensembl transtripts involved in fusion geneENST00000267525, ENST00000341099, 
ENST00000353772, ENST00000357782, 
ENST00000358599, ENST00000542956, 
ENST00000553796, ENST00000554572, 
ENST00000555278, ENST00000555483, 
ENST00000557772, 
ENST00000261693, 
ENST00000339570, ENST00000376788, 
ENST00000415380, ENST00000535005, 
ENST00000540495, ENST00000541205, 
ENST00000544327, ENST00000546215, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 11 X 10=660
# samples 118
** MAII scorelog2(1/1*10)=3.32192809488736log2(18/660*10)=-1.87446911791614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ESR2 [Title/Abstract] AND SCARB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointESR2(64694132)-SCARB1(125308400), # 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
HgeneESR2

GO:0000122

negative regulation of transcription by RNA polymerase II

15345745

HgeneESR2

GO:0045893

positive regulation of transcription, DNA-templated

20074560

HgeneESR2

GO:0051091

positive regulation of DNA-binding transcription factor activity

10681512

TgeneSCARB1

GO:0010886

positive regulation of cholesterol storage

9211901

TgeneSCARB1

GO:0015920

lipopolysaccharide transport

12651854

TgeneSCARB1

GO:0032497

detection of lipopolysaccharide

12651854

TgeneSCARB1

GO:0034384

high-density lipoprotein particle clearance

9211901

TgeneSCARB1

GO:0043654

recognition of apoptotic cell

9211901

TgeneSCARB1

GO:0051000

positive regulation of nitric-oxide synthase activity

11792700


check buttonFusion gene breakpoints across ESR2 (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 SCARB1 (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
ChiTaRS5.0N/AAF051428ESR2chr14

64694132

-SCARB1chr12

125308400

+


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Fusion Gene ORF analysis for ESR2-SCARB1

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
intron-intronENST00000267525ENST00000261693ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000267525ENST00000339570ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000267525ENST00000376788ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000267525ENST00000415380ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000267525ENST00000535005ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000267525ENST00000540495ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000267525ENST00000541205ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000267525ENST00000544327ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000267525ENST00000546215ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000341099ENST00000261693ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000341099ENST00000339570ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000341099ENST00000376788ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000341099ENST00000415380ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000341099ENST00000535005ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000341099ENST00000540495ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000341099ENST00000541205ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000341099ENST00000544327ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000341099ENST00000546215ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000353772ENST00000261693ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000353772ENST00000339570ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000353772ENST00000376788ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000353772ENST00000415380ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000353772ENST00000535005ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000353772ENST00000540495ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000353772ENST00000541205ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000353772ENST00000544327ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000353772ENST00000546215ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000357782ENST00000261693ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000357782ENST00000339570ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000357782ENST00000376788ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000357782ENST00000415380ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000357782ENST00000535005ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000357782ENST00000540495ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000357782ENST00000541205ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000357782ENST00000544327ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000357782ENST00000546215ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000358599ENST00000261693ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000358599ENST00000339570ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000358599ENST00000376788ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000358599ENST00000415380ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000358599ENST00000535005ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000358599ENST00000540495ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000358599ENST00000541205ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000358599ENST00000544327ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000358599ENST00000546215ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000542956ENST00000261693ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000542956ENST00000339570ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000542956ENST00000376788ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000542956ENST00000415380ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000542956ENST00000535005ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000542956ENST00000540495ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000542956ENST00000541205ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000542956ENST00000544327ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000542956ENST00000546215ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000553796ENST00000261693ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000553796ENST00000339570ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000553796ENST00000376788ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000553796ENST00000415380ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000553796ENST00000535005ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000553796ENST00000540495ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000553796ENST00000541205ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000553796ENST00000544327ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000553796ENST00000546215ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000554572ENST00000261693ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000554572ENST00000339570ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000554572ENST00000376788ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000554572ENST00000415380ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000554572ENST00000535005ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000554572ENST00000540495ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000554572ENST00000541205ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000554572ENST00000544327ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000554572ENST00000546215ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555278ENST00000261693ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555278ENST00000339570ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555278ENST00000376788ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555278ENST00000415380ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555278ENST00000535005ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555278ENST00000540495ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555278ENST00000541205ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555278ENST00000544327ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555278ENST00000546215ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555483ENST00000261693ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555483ENST00000339570ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555483ENST00000376788ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555483ENST00000415380ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555483ENST00000535005ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555483ENST00000540495ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555483ENST00000541205ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555483ENST00000544327ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000555483ENST00000546215ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000557772ENST00000261693ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000557772ENST00000339570ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000557772ENST00000376788ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000557772ENST00000415380ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000557772ENST00000535005ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000557772ENST00000540495ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000557772ENST00000541205ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000557772ENST00000544327ESR2chr14

64694132

-SCARB1chr12

125308400

+
intron-intronENST00000557772ENST00000546215ESR2chr14

64694132

-SCARB1chr12

125308400

+

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 ESR2-SCARB1


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)

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.

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Fusion Protein Features for ESR2-SCARB1


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/:64694132/:125308400)
- 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
ESR2

Q92731

.
FUNCTION: Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner (PubMed:20074560). Isoform beta-cx lacks ligand binding ability and has no or only very low ere binding activity resulting in the loss of ligand-dependent transactivation ability. DNA-binding by ESR1 and ESR2 is rapidly lost at 37 degrees Celsius in the absence of ligand while in the presence of 17 beta-estradiol and 4-hydroxy-tamoxifen loss in DNA-binding at elevated temperature is more gradual. {ECO:0000269|PubMed:20074560, ECO:0000269|PubMed:29261182, ECO:0000269|PubMed:30113650}.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}.

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 ESR2-SCARB1


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 ESR2-SCARB1


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 ESR2-SCARB1


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 ESR2-SCARB1


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