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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:EYS-BLCAP (FusionGDB2 ID:28079)

Fusion Gene Summary for EYS-BLCAP

Fusion gene summary

Fusion gene information	Fusion gene name: EYS-BLCAP
	Fusion gene ID: 28079
		Hgene	Tgene
	Gene symbol	EYS	BLCAP
	Gene ID	346007	10904
	Gene name	eyes shut homolog	BLCAP apoptosis inducing factor
	Synonyms	C6orf178\|C6orf179\|C6orf180\|EGFL10\|EGFL11\|RP25\|SPAM\|bA166P24.2\|bA307F22.3\|bA74E24.1\|dJ1018A4.2\|dJ22I17.2\|dJ303F19.1	BC10
	Cytomap	6q12	20q11.23
	Type of gene	protein-coding	protein-coding
	Description	protein eyes shut homologEGF-like-domain, multiple 10EGF-like-domain, multiple 11epidermal growth factor-like protein 10epidermal growth factor-like protein 11protein spacemaker homolog	bladder cancer-associated proteinbladder cancer associated proteinbladder cancer related protein (10kD)
	Modification date	20200313	20200313
	UniProtAcc	Q5T1H1	P62952
	Ensembl transtripts involved in fusion gene	ENST00000342421, ENST00000370616, ENST00000370618, ENST00000370621, ENST00000393380, ENST00000486069, ENST00000503581,	ENST00000373537, ENST00000397137, ENST00000414542, ENST00000397131, ENST00000397134, ENST00000397135, ENST00000411780,
Fusion gene scores	* DoF score	11 X 11 X 4=484	5 X 5 X 1=25
	# samples	10	5
	** MAII score	log2(10/484*10)=-2.27500704749987 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/25*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: EYS [Title/Abstract] AND BLCAP [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	EYS(64853242)-BLCAP(36147125), # 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	BLCAP	GO:0030262	apoptotic nuclear changes	17031575

Fusion gene breakpoints across EYS (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 BLCAP (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	AI803326	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+

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Fusion Gene ORF analysis for EYS-BLCAP

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	ENST00000342421	ENST00000373537	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000342421	ENST00000397137	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000342421	ENST00000414542	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000370616	ENST00000373537	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000370616	ENST00000397137	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000370616	ENST00000414542	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000370618	ENST00000373537	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000370618	ENST00000397137	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000370618	ENST00000414542	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000370621	ENST00000373537	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000370621	ENST00000397137	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000370621	ENST00000414542	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000393380	ENST00000373537	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000393380	ENST00000397137	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000393380	ENST00000414542	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000486069	ENST00000373537	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000486069	ENST00000397137	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000486069	ENST00000414542	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000503581	ENST00000373537	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000503581	ENST00000397137	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-3UTR	ENST00000503581	ENST00000414542	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000342421	ENST00000397131	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000342421	ENST00000397134	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000342421	ENST00000397135	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000342421	ENST00000411780	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000370616	ENST00000397131	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000370616	ENST00000397134	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000370616	ENST00000397135	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000370616	ENST00000411780	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000370618	ENST00000397131	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000370618	ENST00000397134	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000370618	ENST00000397135	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000370618	ENST00000411780	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000370621	ENST00000397131	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000370621	ENST00000397134	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000370621	ENST00000397135	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000370621	ENST00000411780	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000393380	ENST00000397131	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000393380	ENST00000397134	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000393380	ENST00000397135	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000393380	ENST00000411780	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000486069	ENST00000397131	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000486069	ENST00000397134	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000486069	ENST00000397135	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000486069	ENST00000411780	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000503581	ENST00000397131	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000503581	ENST00000397134	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000503581	ENST00000397135	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+
intron-intron	ENST00000503581	ENST00000411780	EYS	chr6	64853242	-	BLCAP	chr20	36147125	+

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 EYS-BLCAP

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 EYS-BLCAP

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:64853242/:36147125)
- 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
EYS Q5T1H1	BLCAP P62952
FUNCTION: Required to maintain the integrity of photoreceptor cells (PubMed:18836446). Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone (By similarity). {ECO:0000250\|UniProtKB:B8JI71, ECO:0000269\|PubMed:18836446}.	FUNCTION: May regulate cell proliferation and coordinate apoptosis and cell cycle progression via a novel mechanism independent of both p53/TP53 and NF-kappa-B. {ECO:0000269\|PubMed:17031575}.

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 EYS-BLCAP

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 EYS-BLCAP

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 EYS-BLCAP

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 EYS-BLCAP

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source