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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:OSBPL9-EFEMP1 (FusionGDB2 ID:61870)

Fusion Gene Summary for OSBPL9-EFEMP1

Fusion gene summary

Fusion gene information	Fusion gene name: OSBPL9-EFEMP1
	Fusion gene ID: 61870
		Hgene	Tgene
	Gene symbol	OSBPL9	EFEMP1
	Gene ID	114883	2202
	Gene name	oxysterol binding protein like 9	EGF containing fibulin extracellular matrix protein 1
	Synonyms	ORP-9\|ORP9	DHRD\|DRAD\|FBLN3\|FBNL\|FIBL-3\|MLVT\|MTLV\|S1-5
	Cytomap	1p32.3	2p16.1
	Type of gene	protein-coding	protein-coding
	Description	oxysterol-binding protein-related protein 9OSBP-related protein 9	EGF-containing fibulin-like extracellular matrix protein 1EGF containing fibulin like extracellular matrix protein 1extracellular protein S1-5fibulin-3
	Modification date	20200313	20200322
	UniProtAcc	.	Q12805
	Ensembl transtripts involved in fusion gene	ENST00000337809, ENST00000361556, ENST00000371710, ENST00000371714, ENST00000428468, ENST00000435686, ENST00000447887, ENST00000453295, ENST00000462759, ENST00000473207, ENST00000486942, ENST00000530544, ENST00000531828,	ENST00000394554, ENST00000394555, ENST00000355426, ENST00000424836, ENST00000497698,
Fusion gene scores	* DoF score	15 X 11 X 8=1320	6 X 6 X 2=72
	# samples	15	6
	** MAII score	log2(15/1320*10)=-3.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: OSBPL9 [Title/Abstract] AND EFEMP1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	EFEMP1(56093743)-OSBPL9(52150814), # samples:1 OSBPL9(52150814)-EFEMP1(56093743), # 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)

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
Tgene	EFEMP1	GO:0006355	regulation of transcription, DNA-templated	20005202
Tgene	EFEMP1	GO:0007173	epidermal growth factor receptor signaling pathway	19804359
Tgene	EFEMP1	GO:0018108	peptidyl-tyrosine phosphorylation	19804359
Tgene	EFEMP1	GO:0032331	negative regulation of chondrocyte differentiation	20005202

Fusion gene breakpoints across OSBPL9 (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 EFEMP1 (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
ChiTaRS5.0	N/A	H89205	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+

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Fusion Gene ORF analysis for OSBPL9-EFEMP1

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
intron-3UTR	ENST00000337809	ENST00000394554	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000337809	ENST00000394555	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000361556	ENST00000394554	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000361556	ENST00000394555	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000371710	ENST00000394554	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000371710	ENST00000394555	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000371714	ENST00000394554	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000371714	ENST00000394555	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000428468	ENST00000394554	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000428468	ENST00000394555	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000435686	ENST00000394554	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000435686	ENST00000394555	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000447887	ENST00000394554	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000447887	ENST00000394555	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000453295	ENST00000394554	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000453295	ENST00000394555	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000462759	ENST00000394554	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000462759	ENST00000394555	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000473207	ENST00000394554	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000473207	ENST00000394555	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000486942	ENST00000394554	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000486942	ENST00000394555	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000530544	ENST00000394554	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000530544	ENST00000394555	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000531828	ENST00000394554	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-3UTR	ENST00000531828	ENST00000394555	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000337809	ENST00000355426	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000337809	ENST00000424836	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000337809	ENST00000497698	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000361556	ENST00000355426	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000361556	ENST00000424836	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000361556	ENST00000497698	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000371710	ENST00000355426	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000371710	ENST00000424836	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000371710	ENST00000497698	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000371714	ENST00000355426	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000371714	ENST00000424836	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000371714	ENST00000497698	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000428468	ENST00000355426	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000428468	ENST00000424836	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000428468	ENST00000497698	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000435686	ENST00000355426	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000435686	ENST00000424836	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000435686	ENST00000497698	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000447887	ENST00000355426	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000447887	ENST00000424836	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000447887	ENST00000497698	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000453295	ENST00000355426	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000453295	ENST00000424836	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000453295	ENST00000497698	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000462759	ENST00000355426	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000462759	ENST00000424836	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000462759	ENST00000497698	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000473207	ENST00000355426	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000473207	ENST00000424836	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000473207	ENST00000497698	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000486942	ENST00000355426	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000486942	ENST00000424836	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000486942	ENST00000497698	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000530544	ENST00000355426	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000530544	ENST00000424836	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000530544	ENST00000497698	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000531828	ENST00000355426	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000531828	ENST00000424836	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+
intron-intron	ENST00000531828	ENST00000497698	OSBPL9	chr1	52150814	+	EFEMP1	chr2	56093743	+

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 OSBPL9-EFEMP1

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)

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 OSBPL9-EFEMP1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:56093743/:52150814)
- 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
.	EFEMP1 Q12805
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: Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth. {ECO:0000269\|PubMed:19804359, ECO:0000269\|PubMed:19887559, ECO:0000269\|PubMed:20005202}.

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 OSBPL9-EFEMP1

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 OSBPL9-EFEMP1

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 OSBPL9-EFEMP1

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 OSBPL9-EFEMP1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source