	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
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	RelatedDiseases

Fusion gene ID: 11868

FusionGeneSummary for EPS15_OSBPL9

Fusion gene summary

Fusion gene information	Fusion gene name: EPS15_OSBPL9
	Fusion gene ID: 11868
		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	20180522	20180523
	UniProtAcc	P42566	Q96SU4
	Ensembl transtripts involved in fusion gene	ENST00000371730, ENST00000371733, ENST00000396122, ENST00000493793,	ENST00000371714, ENST00000371710, ENST00000337809, ENST00000435686, ENST00000447887, ENST00000453295, ENST00000428468, ENST00000530544, ENST00000531828, ENST00000361556, ENST00000473207, ENST00000462759, ENST00000486942,
Fusion gene scores	* DoF score	10 X 7 X 8=560	5 X 5 X 5=125
	# samples	10	7
	** MAII score	log2(10/560*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(7/125*10)=-0.836501267717121 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]
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)

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

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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
Frame-shift	ENST00000371730	ENST00000371714	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371730	ENST00000371710	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371730	ENST00000337809	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	ENST00000428468	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	ENST00000371730	ENST00000361556	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
5CDS-intron	ENST00000371730	ENST00000473207	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
5CDS-intron	ENST00000371730	ENST00000462759	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
5CDS-intron	ENST00000371730	ENST00000486942	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371733	ENST00000371714	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371733	ENST00000371710	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
Frame-shift	ENST00000371733	ENST00000337809	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	ENST00000428468	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	+
Frame-shift	ENST00000371733	ENST00000361556	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
5CDS-intron	ENST00000371733	ENST00000473207	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
5CDS-intron	ENST00000371733	ENST00000462759	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
5CDS-intron	ENST00000371733	ENST00000486942	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000396122	ENST00000371714	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000396122	ENST00000371710	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000396122	ENST00000337809	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	ENST00000428468	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	ENST00000396122	ENST00000361556	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-intron	ENST00000396122	ENST00000473207	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-intron	ENST00000396122	ENST00000462759	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-intron	ENST00000396122	ENST00000486942	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000493793	ENST00000371714	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000493793	ENST00000371710	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-3CDS	ENST00000493793	ENST00000337809	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	ENST00000428468	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-3CDS	ENST00000493793	ENST00000361556	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-intron	ENST00000493793	ENST00000473207	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-intron	ENST00000493793	ENST00000462759	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+
intron-intron	ENST00000493793	ENST00000486942	EPS15	chr1	51946945	-	OSBPL9	chr1	52246836	+

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FusionProtFeatures for EPS15_OSBPL9

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

Hgene	Tgene
EPS15 P42566	OSBPL9 Q96SU4
Involved in cell growth regulation. May be involved inthe regulation of mitogenic signals and control of cellproliferation. Involved in the internalization of ligand-induciblereceptors of the receptor tyrosine kinase (RTK) type, inparticular EGFR. Plays a role in the assembly of clathrin-coatedpits (CCPs). Acts as a clathrin adapter required for post-Golgitrafficking. Seems to be involved in CCPs maturation includinginvagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1as DAB2-dependent cargo but not TFR seems to require associationwith DAB2. {ECO:0000269\|PubMed:16903783,ECO:0000269\|PubMed:18362181, ECO:0000269\|PubMed:19458185,ECO:0000269\|PubMed:22648170}.

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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FusionGeneSequence for EPS15_OSBPL9

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 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
EPS15	RNF11, SNAP91, AGFG1, NAGPA, STON2, HGS, AP2A2, DNM2, AP2A1, EGFR, CLINT1, EPN1, SCAMP1, STAM2, GRB2, CRK, RAB11FIP2, REPS2, UBE2D1, UBE2D2, UBE2D3, UBE2H, UBE2E1, SLC6A3, PARK2, USP8, CD4, EPS15, OCLN, UBQLN1, UBC, NEDD4, GJA1, TGFB1, FCHO2, ITSN1, ITSN2, ELAVL1, RAD23A, UBQLN2, EPN3, SH3BP4, AP1B1, NUMB, SPG20, TFAP2A, ABL1, AP2B1, IQGAP1, KRT85, KRT1, KRT10, KRT2, AP2M1, KRT14, KRT86, KRT5, KRT6A, KRT16, KRT9, HSPA8, KRT35, HSPA9, KRT17, KRT33B, KRT83, BMP2K, KRT34, KRT82, NONO, KRT38, KRT75, KRT79, PRDX1, KRT36, KRT32, MAP4, HSPA1L, HSPA1B, KRT37, HSPA5, KRT73, AP2S1, NECAP2, TRAF2, MCCC2, KRT4, ACTB, KRT3, VPRBP, TUBB, HIST4H4, PCCB, KRTAP9-3, NECAP1, VSIG8, CCT3, CRKL, FN1, VCAM1, LAPTM5, ITGA4, OPTN, RABL6, EPHA2, CORO7, AGFG2, SLC25A41, AURKA, SPC25, NTRK1, TMEM17, XPO1, CAPZA2, CLTB, CLTC, DBN1, FLNA, GAK, MYH9, PPP1CB, PICALM, PDLIM7, SYNPO, MAPRE1, LIMA1, GTSE1, ANLN, MYO19, MAPK14, AP1G1, MYO6, SPOPL, SGIP1, FCHO1, CDH1, RUNDC3A, LSR, STAMBPL1, CCDC172, OXCT1, MTNR1A, RNF26	OSBPL9	GCH1, HIST1H2BL, VAPB, VAPA, WRAP73, DTNBP1, KBTBD6, USP11, OSBPL10, OSBPL11, HAUS1, BLOC1S2, TERF2, DNAJA1, CYP1A1, HSPB1, COPE, POLD2, NTRK1, KRAS, CHMP4B, FUZ, CFAP36

- 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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RelatedDrugs for EPS15_OSBPL9

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for EPS15_OSBPL9

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source

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Fusion gene ID: 11868

FusionGeneSummary for EPS15_OSBPL9

FusionProtFeatures for EPS15_OSBPL9

FusionGeneSequence for EPS15_OSBPL9

FusionGenePPI for EPS15_OSBPL9

RelatedDrugs for EPS15_OSBPL9

RelatedDiseases for EPS15_OSBPL9