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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:EPS15-OSBPL9 (FusionGDB2 ID:27091)

Fusion Gene Summary for EPS15-OSBPL9

Fusion gene summary

Fusion gene information	Fusion gene name: EPS15-OSBPL9
	Fusion gene ID: 27091
		Hgene	Tgene
	Gene symbol	EPS15	OSBPL9
	Gene ID	2060	114883
	Gene name	epidermal growth factor receptor pathway substrate 15	oxysterol binding protein like 9
	Synonyms	AF-1P\|AF1P\|MLLT5	ORP-9\|ORP9
	Cytomap	1p32.3	1p32.3
	Type of gene	protein-coding	protein-coding
	Description	epidermal growth factor receptor substrate 15ALL1 fused gene from chromosome 1protein AF-1p	oxysterol-binding protein-related protein 9OSBP-related protein 9
	Modification date	20200313	20200313
	UniProtAcc	P42566	.
	Ensembl transtripts involved in fusion gene	ENST00000371730, ENST00000371733, ENST00000396122, ENST00000493793,	ENST00000462759, ENST00000473207, ENST00000486942, ENST00000337809, ENST00000361556, ENST00000371710, ENST00000371714, ENST00000428468, ENST00000435686, ENST00000447887, ENST00000453295, ENST00000530544, ENST00000531828,
Fusion gene scores	* DoF score	17 X 13 X 11=2431	12 X 14 X 7=1176
	# samples	17	15
	** MAII score	log2(17/2431*10)=-3.83794324189103 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(15/1176*10)=-2.97085365434048 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: EPS15 [Title/Abstract] AND OSBPL9 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	EPS15(51946945)-OSBPL9(52246836), # samples:1
Anticipated loss of major functional domain due to fusion event.	EPS15-OSBPL9 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. EPS15-OSBPL9 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. EPS15-OSBPL9 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	EPS15	GO:0048268	clathrin coat assembly	12807910

Fusion gene breakpoints across EPS15 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across OSBPL9 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	HNSC	TCGA-CV-5971-01A	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+

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Fusion Gene ORF analysis for EPS15-OSBPL9

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-intron	ENST00000371730	ENST00000462759	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
5CDS-intron	ENST00000371730	ENST00000473207	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
5CDS-intron	ENST00000371730	ENST00000486942	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
5CDS-intron	ENST00000371733	ENST00000462759	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
5CDS-intron	ENST00000371733	ENST00000473207	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
5CDS-intron	ENST00000371733	ENST00000486942	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371730	ENST00000337809	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371730	ENST00000361556	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371730	ENST00000371710	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371730	ENST00000371714	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371730	ENST00000428468	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371730	ENST00000435686	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371730	ENST00000447887	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371730	ENST00000453295	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371730	ENST00000530544	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371730	ENST00000531828	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371733	ENST00000337809	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371733	ENST00000361556	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371733	ENST00000371710	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371733	ENST00000371714	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371733	ENST00000428468	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371733	ENST00000435686	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371733	ENST00000447887	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371733	ENST00000453295	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371733	ENST00000530544	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371733	ENST00000531828	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000396122	ENST00000337809	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000396122	ENST00000361556	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000396122	ENST00000371710	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000396122	ENST00000371714	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000396122	ENST00000428468	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000396122	ENST00000435686	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000396122	ENST00000447887	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000396122	ENST00000453295	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000396122	ENST00000530544	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000396122	ENST00000531828	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000493793	ENST00000337809	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000493793	ENST00000361556	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000493793	ENST00000371710	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000493793	ENST00000371714	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000493793	ENST00000428468	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000493793	ENST00000435686	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000493793	ENST00000447887	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000493793	ENST00000453295	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000493793	ENST00000530544	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000493793	ENST00000531828	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-intron	ENST00000396122	ENST00000462759	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-intron	ENST00000396122	ENST00000473207	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-intron	ENST00000396122	ENST00000486942	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-intron	ENST00000493793	ENST00000462759	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-intron	ENST00000493793	ENST00000473207	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-intron	ENST00000493793	ENST00000486942	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for EPS15-OSBPL9

FusionAI 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.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
EPS15	chr1	51946944	-	OSBPL9	chr1	52246835	+	0.003958798	0.9960412
EPS15	chr1	51946944	-	OSBPL9	chr1	52246835	+	0.003958798	0.9960412

Distribution 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.

Distribution 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 EPS15-OSBPL9

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:51946945/:52246836)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
EPS15 P42566	.
FUNCTION: Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2. {ECO:0000269\|PubMed:16903783, ECO:0000269\|PubMed:18362181, ECO:0000269\|PubMed:19458185, ECO:0000269\|PubMed:22648170}.	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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for EPS15-OSBPL9

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 EPS15-OSBPL9

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for EPS15-OSBPL9

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for EPS15-OSBPL9

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source