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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
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Fusion gene:CEP290-VEZT (FusionGDB2 ID:HG80184TG55591)

Fusion Gene Summary for CEP290-VEZT

Fusion gene summary

Fusion gene information	Fusion gene name: CEP290-VEZT
	Fusion gene ID: hg80184tg55591
		Hgene	Tgene
	Gene symbol	CEP290	VEZT
	Gene ID	80184	55591
	Gene name	centrosomal protein 290	vezatin, adherens junctions transmembrane protein
	Synonyms	3H11Ag\|BBS14\|CT87\|JBTS5\|LCA10\|MKS4\|NPHP6\|POC3\|SLSN6\|rd16	VEZATIN
	Cytomap	('CEP290')('VEZT') 12q21.32	12q22
	Type of gene	protein-coding	protein-coding
	Description	centrosomal protein of 290 kDaBardet-Biedl syndrome 14 proteinCTCL tumor antigen se2-2Meckel syndrome, type 4POC3 centriolar protein homologcancer/testis antigen 87centrosomal protein 290kDamonoclonal antibody 3H11 antigennephrocytsin-6prostate c	vezatin
	Modification date	20200328	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000309041, ENST00000397838, ENST00000547691, ENST00000552810,
Fusion gene scores	* DoF score	3 X 4 X 2=24	5 X 6 X 6=180
	# samples	3	7
	** MAII score	log2(3/24*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(7/180*10)=-1.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CEP290 [Title/Abstract] AND VEZT [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	CEP290(88486458)-VEZT(95645716), # samples:3
Anticipated loss of major functional domain due to fusion event.	CEP290-VEZT seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CEP290-VEZT seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CEP290-VEZT seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. CEP290-VEZT seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. CEP290-VEZT seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. CEP290-VEZT seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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	CEP290	GO:0045893	positive regulation of transcription, DNA-templated	16682973
Hgene	CEP290	GO:0060271	cilium assembly	26386044

Fusion gene breakpoints across CEP290 (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 VEZT (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
* 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	SARC	TCGA-DX-A3M1-01A	CEP290	chr12	88486458	-	VEZT	chr12	95645716	+
ChimerDB4	SARC	TCGA-DX-A3M1-01A	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+

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Fusion Gene ORF analysis for CEP290-VEZT

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-5UTR	ENST00000309041	ENST00000261219	CEP290	chr12	88486458	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000309041	ENST00000261219	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000309041	ENST00000356859	CEP290	chr12	88486458	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000309041	ENST00000356859	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000397838	ENST00000261219	CEP290	chr12	88486458	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000397838	ENST00000261219	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000397838	ENST00000356859	CEP290	chr12	88486458	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000397838	ENST00000356859	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000547691	ENST00000261219	CEP290	chr12	88486458	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000547691	ENST00000261219	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000547691	ENST00000356859	CEP290	chr12	88486458	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000547691	ENST00000356859	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000552810	ENST00000261219	CEP290	chr12	88486458	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000552810	ENST00000261219	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000552810	ENST00000356859	CEP290	chr12	88486458	-	VEZT	chr12	95645716	+
5CDS-5UTR	ENST00000552810	ENST00000356859	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+
Frame-shift	ENST00000309041	ENST00000436874	CEP290	chr12	88486458	-	VEZT	chr12	95645716	+
Frame-shift	ENST00000309041	ENST00000436874	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+
Frame-shift	ENST00000397838	ENST00000436874	CEP290	chr12	88486458	-	VEZT	chr12	95645716	+
Frame-shift	ENST00000547691	ENST00000436874	CEP290	chr12	88486458	-	VEZT	chr12	95645716	+
Frame-shift	ENST00000552810	ENST00000436874	CEP290	chr12	88486458	-	VEZT	chr12	95645716	+
Frame-shift	ENST00000552810	ENST00000436874	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+
In-frame	ENST00000397838	ENST00000436874	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+
In-frame	ENST00000547691	ENST00000436874	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+

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)

ENST00000547691

CEP290

chr12

88487547

ENST00000436874

VEZT

chr12

95645716

6090

1669

1180

3972

930

ENST00000397838

CEP290

chr12

88487547

ENST00000436874

VEZT

chr12

95645716

6989

2568

4871

1610

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
ENST00000547691	ENST00000436874	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+	0.000100955	0.999899
ENST00000397838	ENST00000436874	CEP290	chr12	88487547	-	VEZT	chr12	95645716	+	0.000249273	0.9997507

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Fusion Genomic Features for CEP290-VEZT

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)
CEP290	chr12	88486457	-	VEZT	chr12	95645720	+	2.62E-07	0.99999976
CEP290	chr12	88487546	-	VEZT	chr12	95645720	+	2.42E-08	1
CEP290	chr12	88486457	-	VEZT	chr12	95645720	+	2.62E-07	0.99999976
CEP290	chr12	88487546	-	VEZT	chr12	95645720	+	2.42E-08	1

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 CEP290-VEZT

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:88486458/chr12:95645716)
- 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
.	.
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: 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

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000552810

598_664

1103

2480.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000552810

59_565

1103

2480.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000552810

697_931

1103

2480.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000552810

958_1027

1103

2480.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000552810

1_695

1103

2480.0

Region

Self-association (with itself or C-terminus)

Tgene

VEZT

chr12:88487547

chr12:95645716

ENST00000436874

430_462

780.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

VEZT

chr12:88487547

chr12:95645716

ENST00000436874

763_766

780.0

Compositional bias

Note=Poly-Glu

Tgene

VEZT

chr12:88487547

chr12:95645716

ENST00000436874

139_159

780.0

Transmembrane

Helical

Tgene

VEZT

chr12:88487547

chr12:95645716

ENST00000436874

162_182

780.0

Transmembrane

Helical

- 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

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000397838

1071_1498

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000397838

1533_1584

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000397838

1635_2452

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000397838

598_664

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000397838

59_565

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000397838

697_931

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000397838

958_1027

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000547691

1071_1498

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000547691

1533_1584

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000547691

1635_2452

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000547691

598_664

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000547691

59_565

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000547691

697_931

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000547691

958_1027

163

1540.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000552810

1071_1498

1103

2480.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000552810

1533_1584

1103

2480.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000552810

1635_2452

1103

2480.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000397838

1966_2479

163

1540.0

Region

Self-association (with itself or N-terminus)

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000397838

1_695

163

1540.0

Region

Self-association (with itself or C-terminus)

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000547691

1966_2479

163

1540.0

Region

Self-association (with itself or N-terminus)

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000547691

1_695

163

1540.0

Region

Self-association (with itself or C-terminus)

Hgene

CEP290

chr12:88487547

chr12:95645716

ENST00000552810

1966_2479

1103

2480.0

Region

Self-association (with itself or N-terminus)

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Fusion Gene Sequence for CEP290-VEZT

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.

>15837_15837_1_CEP290-VEZT_CEP290_chr12_88487547_ENST00000397838_VEZT_chr12_95645716_ENST00000436874_length(transcript)=6989nt_BP=2568nt
GATCATTATCAACTTCAAGTGCAGGAGCTTACAGATCTTCTGAAATCAAAAAATGAAGAAGATGATCCAATTATGGTAGCTGTCAATGCA
AAAGTAGAAGAATGGAAGCTAATTTTGTCTTCTAAAGATGATGAAATTATTGAGTATCAGCAAATGTTACATAACCTAAGGGAGAAACTT
AAGAATGCTCAGCTTGATGCTGATAAAAGTAATGTTATGGCTCTACAGCAGGGTATACAGGAACGAGACAGTCAAATTAAGATGCTCACC
GAACAAGTAGAACAATATACAAAAGAAATGGAAAAGAATACTTGTATTATTGAAGATTTGAAAAATGAGCTCCAAAGAAACAAAGGTGCT
TCAACCCTTTCTCAACAGACTCATATGAAAATTCAGTCAACGTTAGACATTTTAAAAGAGAAAACTAAAGAGGCTGAGAGAACAGCTGAA
CTGGCTGAGGCTGATGCTAGGGAAAAGGATAAAGAATTAGTTGAGGCTCTGAAGAGGTTAAAAGATTATGAATCGGGAGTATATGGTTTA
GAAGATGCTGTCGTTGAAATAAAGAATTGTAAAAACCAAATTAAAATAAGAGATCGAGAGATTGAAATATTAACAAAGGAAATCAATAAA
CTTGAATTGAAGATCAGTGATTTCCTTGATGAAAATGAGGCACTTAGAGAGCGTGTGGGCCTTGAACCAAAGACAATGATTGATTTAACT
GAATTTAGAAATAGCAAACACTTAAAACAGCAGCAGTACAGAGCTGAAAACCAGATTCTTTTGAAAGAGATTGAAAGTCTAGAGGAAGAA
CGACTTGATCTGAAAAAAAAAATTCGTCAAATGGCTCAAGAAAGAGGAAAAAGAAGTGCAACTTCAGGATTAACCACTGAGGACCTGAAC
CTAACTGAAAACATTTCTCAAGGAGATAGAATAAGTGAAAGAAAATTGGATTTATTGAGCCTCAAAAATATGAGTGAAGCACAATCAAAG
AATGAAATCATAGCACAGGAATTCTTGATCAAAGAAGCAGAGTGTAGAAATGCAGATATAGAGCTTGAACATCACAGAAGCCAGGCAGAA
CAGAATGAATTTCTTTCAAGAGAACTAATTGAAAAAGAAAGAGATTTAGAAAGGAGTAGGACAGTGATAGCCAAATTTCAGAATAAATTA
AAAGAATTAGTTGAAGAAAATAAGCAACTTGAAGAAGGTATGAAAGAAATATTGCAAGCAATTAAGGAAATGCAGAAAGATCCTGATGTT
AAAGGAGGAGAAACATCTCTAATTATCCCTAGCCTTGAAAGACTAGTTAATGCTATAGAATCAAAGAATGCAGAAGGAATCTTTGATGCG
AGTCTGCATTTGAAAGCCCAAGTTGATCAGCTTACCGGAAGAAATGAAGAATTAAGACAGGAGCTCAGGGAATCTCGGAAAGAGGCTATA
AATTATTCACAGCAGTTGGCAAAAGCTAATTTAAAGATAGACCATCTTGAAAAAGAAACTAGTCTTTTACGACAATCAGAAGGATCAAAT
GTTGTTTTTAAAGGAATTGACTTACCTGATGGGATAGCACCATCTAGTGCCAGTATCATTAATTCTCAGAATGAATATTTAATACATTTG
TTACAGGAACTAGAAAATAAAGAAAAAAAGTTAAAGAATTTAGAAGATTCTCTTGAAGATTACAACAGAAAATTTGCTGTAATTCGTCAT
CAACAAAGTTTGTTGTATAAAGAATACCTAAGTGAAAAGGAGACCTGGAAAACAGAATCTAAAACAATAAAAGAGGAAAAGAGAAAACTT
GAGGATCAAGTCCAACAAGATGCTATAAAAGTAAAAGAATATAATAATTTGCTCAATGCTCTTCAGATGGATTCGGATGAAATGAAAAAA
ATACTTGCAGAAAATAGTAGGAAAATTACTGTTTTGCAAGTGAATGAAAAATCACTTATAAGGCAATATACAACCTTAGTAGAATTGGAG
CGACAACTTAGAAAAGAAAATGAGAAGCAAAAGAATGAATTGTTGTCAATGGAGGCTGAAGTTTGTGAAAAAATTGGGTGTTTGCAAAGA
TTTAAGGAAATGGCCATTTTCAAGATTGCAGCTCTCCAAAAAGTTGTAGATAATAGTGTTTCTTTGTCTGAACTAGAACTGGCTAATAAA
CAGTACAATGAACTGACTGCTAAGTACAGGGACATCTTGCAAAAAGATAATATGCTTGTTCAAAGAACAAGTAACTTGGAACACCTGGAG
TGTGAAAACATCTCCTTAAAAGAACAAGTGGAGTCTATAAATAAAGAACTGGAGATTACCAAGGAAAAACTTCACACTATTGAACAAGCC
TGGGAACAGGAAACTAAATTAGGTAATGAATCTAGCATGGATAAGGCAAAGAAATCAATAACCAACAGTGACATTGTTTCCATTTCAAAA
AAAATAACTATGCTGGAAATGAAGGAATTAAATGAAAGGCAGCGGGCTGAACATTGTCAAAAAATGTATGAACACTTACGGACTTCGTTA
AAGCAAATGGAGGAACGTAATTTTGAATTGGAAACCAAATTTGCTGAGAATTCTCCACTTTACCAATACTTACAGGATCTGGGACACACA
GACTTTGAAATATGTTCTTCTTTGTCACCAAAAACAGAAAAATGCACAACAGAGGGACAACAAAAGCCTCCTACAAGAGTCCTACCAAAA
CAAGGTATCCTGTTAAAAGTGGCTGAAACCATCAAAAGTTGGATTTTTTTTTCTCAGTGCAATAAGAAAGATGACTTACTTCACAAGTTG
GATATTGGATTCCGACTCGACTCATTACATACCATCCTGCAACAGGAAGTCCTGTTACAAGAGGATGTGGAGCTGATTGAGCTACTTGAT
CCCAGTATCCTGTCTGCAGGGCAATCTCAACAACAGGAAAATGGACACCTTCCAACACTTTGCTCCCTGGCAACCCCTAATATTTGGGAT
CTCTCAATGCTATTTGCCTTCATTAGCTTGCTCGTTATGCTTCCCACTTGGTGGATTGTGTCTTCCTGGCTGGTATGGGGAGTGATTCTA
TTTGTGTATCTGGTCATAAGAGCTTTGAGATTATGGAGGACAGCCAAACTACAAGTGACCCTAAAAAAATACAGCGTTCATTTGGAAGAT
ATGGCCACAAACAGCCGAGCTTTTACTAACCTCGTGAGAAAAGCTTTACGTCTCATTCAAGAAACCGAAGTGATTTCCAGAGGATTTACA
CTGGTCAGTGCTGCTTGCCCATTTAATAAAGCTGGACAGCATCCAAGTCAGCATCTCATCGGTCTTCGGAAAGCTGTCTACCGAACTCTA
AGAGCCAACTTCCAAGCAGCAAGGCTAGCTACCCTATATATGCTGAAAAACTACCCCCTGAACTCTGAGAGTGACAATGTAACCAACTAC
ATCTGTGTGGTGCCTTTTAAAGAGCTGGGCCTTGGACTTAGTGAAGAGCAGATTTCAGAAGAGGAAGCACATAACTTTACAGATGGCTTC
AGCCTGCCTGCATTGAAGGTTTTGTTCCAACTCTGGGTGGCACAGAGTTCAGAGTTCTTCAGACGGTTAGCCCTATTACTTTCTACAGCC
AATTCACCTCCTGGGCCCTTACTTACTCCAGCACTTCTGCCTCATCGTATCTTATCTGATGTGACTCAAGGTCTACCTCATGCTCATTCT
GCCTGTTTGGAAGAGCTTAAGCGCAGCTATGAGTTCTATCGGTACTTTGAAACTCAGCACCAGTCAGTACCGCAGTGTTTATCCAAAACT
CAACAGAAGTCAAGAGAACTGAATAATGTTCACACAGCAGTGCGTAGCTTGCAGCTCCATCTGAAAGCATTACTGAATGAGGTAATAATT
CTTGAAGATGAACTTGAAAAGCTTGTTTGTACTAAAGAAACACAAGAACTAGTGTCAGAGGCTTATCCCATCCTAGAACAGAAATTAAAG
TTGATTCAGCCCCACGTTCAAGCAAGCAACAATTGCTGGGAAGAGGCCATTTCTCAGGTCGACAAACTGCTACGAAGAAATACAGATAAA
AAAGGCAAGCCTGAAATAGCATGTGAAAACCCACATTGTACAGTAGTACCTTTGAAGCAGCCTACTCTACACATTGCAGACAAAGATCCA
ATCCCAGAGGAGCAGGAATTAGAAGCTTATGTAGATGATATAGATATTGATAGTGATTTCAGAAAGGATGATTTTTATTACTTGTCTCAA
GAAGACAAAGAGAGACAGAAGCGTGAGCATGAAGAATCCAAGAGGGTGCTCCAAGAATTAAAATCTGTGCTGGGATTTAAAGCTTCAGAG
GCAGAAAGGCAGAAGTGGAAGCAACTTCTATTTAGTGATCATGCCGTGTTGAAATCCTTGTCTCCTGTAGACCCAGTGGAACCCATAAGT
AATTCAGAACCATCAATGAATTCAGATATGGGAAAAGTCAGTAAAAATGATACTGAAGAGGAAAGTAATAAATCCGCCACAACAGACAAT
GAAATAAGTAGGACTGAGTATTTATGTGAAAACTCTCTAGAAGGTAAAAATAAAGATAATTCTTCAAATGAAGTCTTCCCCCAAGGAGCA
GAAGAAAGAATGTGTTACCAATGTGAGAGTGAAGATGAACCACAAGCAGATGGAAGTGGTCTGACCACTGCCCCTCCAACTCCCAGGGAC
TCATTACAGCCCTCCATTAAGCAGAGGCTGGCACGGCTACAGCTGTCACCAGATTTTACCTTCACTGCTGGCCTTGCTGCAGAAGTGGCT
GCTAGATCTCTCTCCTTTACCACCATGCAGGAACAGACTTTTGGTGGTGAGGAGGAAGAACAAATAATAGAAGAAAATAAAAATGAGATA
GAAGAAAAGTAAGAACCAAGATTCATATGAAGTGATATTAGATTGTTCCTTTTACAAAAGTGTTTAGCTTCAAGACTGGAAAGGGAATAT
GAGTGTAAGTTTACTATATATAAAGCTAAGATGTGGATTTACAGGAAGAACCCTGGTTTGAATAACTGATCTGAAATTAGTAGTTACCTG
TAAATGGCAGATCTTTTAGGAAAATAAGAGAAAGGTAAGGGCTCTTTTGAATAAACTGCTGTTTTATTTGTGGCACAACTGATCAATCTT
GGAAATTCTTTAAGTATTTTTAATAAGAAATGAATTATCATTTCTTGCCAGAATTTGCTACCTTAAGGTGATTGGGAAAATTCTGTTGCA
AGAACATTAACATTTAGTATGACTCCTTTTTACTGTATTCTTGCAGTTAATAACTGCAGCTATTATGTTAATAACAAGTTGTTTGTATTT
TATTTTTGTTTATACCAGTCTTAAAGATCCAGGTTCTGAATAAAAAAATTAATTGATACAATTGATGTGTGCTGGGGTTTGGAACTAAAA
GTAGTTTCAACAGTGCGTGGGTTATGACATTTCTTATGTTTCTTTGTTCATGTGTGTATTTAGTAGTTAATTTTAAGATGTCCTAGTGAT
CTTTAAAAGAAAAATATTGTACCATTTTTTAGAATTACACTTTCACCTTTCTTTTTGCAATTGAAAGTGATGATGTCAAAGTGGGATTTC
TGTACTCCAAGGCCCCACCCCCAATTTAGCAAGCAGAAAAACGTTCCTTGTATCACTTTACCTTGGATAATTGGGTGCCATTAACACAAA
CAGGTCACAATCCTGCTGTTTTCTAGCCCTGTCCACCATAATGAGATTCAGGAAACATCCTGTCAGCCTCCTGGAAAGCATCCTTGTCTC
CTTAGTATTTCATTTACAAACTACCTCTTAACAGAGACTGCTTTTCAAATTGGCCAATCTTACCTGTTTTGTGTTGTGATTGCATTTTCA
AAGAGTAATTATTTTCAGCATATACAGTTTTGAAACCTGTAGCTCCTATGCAATAACATAGTTCTATAGACATTATTTGGGGGAAATGTA
GTAATAACTCAATCTATGTTGCTGTCCTAGAAAGGAAATTGCATGATGAATCTAGATTGTCTTTAGAGTAAAGAAACACATTCAAATTCC
TGTAACTTATCACTTTCAGTGAGTAAATTTACTTATACCAAAGGGGATTTTTTTTCTTTCAGGAATCTAAGGAAATTTACTTTTTAACCT
GAGAAAAAAACTTGGTTCTGCTTTATATAAACAGTAGAGATTATTGTACTATAAGTGATTTTGCCTTTTTGCCAAAATCCTGGAACTCAT
CTATAATTAACCTCTTCGGAGCAATACCTTAGGTTGGGCCTTGCTTTACTACTTAGAAATAGCTAAATTTCAATTTTAAAAATCTTTGTG
TGTTATAACTGTTAAATTATTCAATAATACTTAGGGTTTACTTTCTTATTTAAATCACTTATTTAGTTTACCGACTTCATTTTTCTTTGG
ATTTAGAAGAAGCAATTATGGAAAAACTTGGTAATCTCTCTCAACCTATAACCTTACACAGGAAGAATTAGAGTTTAATAATTTTTAATT
CTTTTATTGTATGTTACTTTTATTACACCAGTTTGGGGGAAAATCTTCATAAAATTGTATCAGTTTTATTCAGTGTTCTCTAAGGTGATA
CCTTTTAATTTTGAAAGACTAAATAATTTTAATCGAGAATTTCCAGTCTTTCAGTCTGATCTATTTAATTCACTACTTGTTACATAATCC
AGTGAAAACTCTACTTGTTGAAATTATGACATAAAGATCTTGCAGCTTTATTTGAGTATTTGTTCTTTTGTGTAGTTTCCATCTTTTAAA
ATATTTAAAATATTTTCAAGATAAAGTATTATCTTCTCTGCAAAAATTCCTGGAGTAATTTTCTCTCATAATATTTGAAGTCAGTGGTTC
TCAGTTGTATTAGTGGGGTAACTACATCAAAATAAATAAAGTCTTATTTTTAAAATGCAAATTTTAGACCATACTCCCAGTGATTCTTAG
TTGGTCTTTTTGGAATGAGCCATAGGTAATGTTTATGTCCAATAAAATCTAGGAACCTC

>15837_15837_1_CEP290-VEZT_CEP290_chr12_88487547_ENST00000397838_VEZT_chr12_95645716_ENST00000436874_length(amino acids)=1610AA_BP=843
MKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKN
TCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQ
IKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQ
ERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEIIAQEFLIKEAECRNADIELEHHRSQAEQNEFLSRELIEKE
RDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTG
RNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKN
LEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQ
VNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDIL
QKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNER
QRAEHCQKMYEHLRTSLKQMEERNFELETKFAENSPLYQYLQDLGHTDFEICSSLSPKTEKCTTEGQQKPPTRVLPKQGILLKVAETIKS
WIFFSQCNKKDDLLHKLDIGFRLDSLHTILQQEVLLQEDVELIELLDPSILSAGQSQQQENGHLPTLCSLATPNIWDLSMLFAFISLLVM
LPTWWIVSSWLVWGVILFVYLVIRALRLWRTAKLQVTLKKYSVHLEDMATNSRAFTNLVRKALRLIQETEVISRGFTLVSAACPFNKAGQ
HPSQHLIGLRKAVYRTLRANFQAARLATLYMLKNYPLNSESDNVTNYICVVPFKELGLGLSEEQISEEEAHNFTDGFSLPALKVLFQLWV
AQSSEFFRRLALLLSTANSPPGPLLTPALLPHRILSDVTQGLPHAHSACLEELKRSYEFYRYFETQHQSVPQCLSKTQQKSRELNNVHTA
VRSLQLHLKALLNEVIILEDELEKLVCTKETQELVSEAYPILEQKLKLIQPHVQASNNCWEEAISQVDKLLRRNTDKKGKPEIACENPHC
TVVPLKQPTLHIADKDPIPEEQELEAYVDDIDIDSDFRKDDFYYLSQEDKERQKREHEESKRVLQELKSVLGFKASEAERQKWKQLLFSD
HAVLKSLSPVDPVEPISNSEPSMNSDMGKVSKNDTEEESNKSATTDNEISRTEYLCENSLEGKNKDNSSNEVFPQGAEERMCYQCESEDE
PQADGSGLTTAPPTPRDSLQPSIKQRLARLQLSPDFTFTAGLAAEVAARSLSFTTMQEQTFGGEEEEQIIEENKNEIEEK

--------------------------------------------------------------
>15837_15837_2_CEP290-VEZT_CEP290_chr12_88487547_ENST00000547691_VEZT_chr12_95645716_ENST00000436874_length(transcript)=6090nt_BP=1669nt
AAGCTTAATACTGAGCATCAAGAAATTCTTTAATAAATATAAGTGATATTTATTCAGACATGTAATAAGGAAATGTTCATGTCTTATTTT
TGTGTTAGATTTTTTTAGAATCTACTTTTGTTAGAGTTTTATAAATACAGTTAGTGTTTGAGATAGAAAGAGAAAAGAATTAGTTTTCTT
CCTCTTCTACCTGCTCATGAACTTGATTTTTTTCTCCCAACAATTGAAGAGCCAAGAAAAAGGGAGATTCTTAAGAGATGGGAAATAGAA
TCTCATCTACCCCTGTTTCCCCCAGAACAGTGAAACTGAATCTTAAGGGTAAGATAGAATAGTGTGTACTTAACTTAGATGGAGAAGAAA
GGCTGCCAAAATGAGATCTGAAGCGCTATTACAAATATTTCCATCGTTACTGTACTTCAGAATGAATTACAACCGTAAGTTTTTTTACTT
CCTCATTCATAAATTTGATTATTCCTTATACCACTTCTCAGCTTTCATCATTCTTTATTGTACTTTTCTATGTAATGTTTGCCTATTATA
CAGCAACTTAAGAGAACTGTAAGTTTGGACATTTCATTTTGGTGTTGATAATAGAATATCTTTGAATAGTTCTATAGTTGATGAGTAGAA
CCATGAACCAAGTAACTTAAAGTCCTTGATGTTATTTATTACAGAGAACTATAATAGAAGCTCTCCCGCTAATGTTTCCATCATGTGTAC
AAAAAGTTTTCTTGTTATTAAAGCTAGTCCGTTTAACTTACAATAAGCATAAATAGCTAAGCTGTGAAAGTTACCTGTGATAATGCTAAT
TTTCCCATTTATTAAAAGGCAAGTTGTTTTCCGATCATAAGAAATTTAGAAAAGCCATCCAAAGATAAATTCCGAGTGATATATTCCTGC
TGTTTGTTATGTTTTCTCAAATTAATTGAGTTTTATTTTACAATGACAGGAGTTATTAAAGTATTTTATTTTTATTATGATTAAGATTTT
CAAAGTAACATTTCTTATATGAAAGAAATTATGTTAATGCATGTTTTTCTTACATGGGAAATCATATATTTTAAAAATGATTTTAAAATT
CGTTTTACTTTAAGTTGTATTATCTTTCTCAAAAGTGGCTAGTGCTTGACCAGAAAAAAAGACACCAGCATAACTCAGTGTATCTTTATT
TACATAGGAAATGGCCATTTTCAAGATTGCAGCTCTCCAAAAAGTTGTAGATAATAGTGTTTCTTTGTCTGAACTAGAACTGGCTAATAA
ACAGTACAATGAACTGACTGCTAAGTACAGGGACATCTTGCAAAAAGATAATATGCTTGTTCAAAGAACAAGTAACTTGGAACACCTGGA
GTGTGAAAACATCTCCTTAAAAGAACAAGTGGAGTCTATAAATAAAGAACTGGAGATTACCAAGGAAAAACTTCACACTATTGAACAAGC
CTGGGAACAGGAAACTAAATTAGGTAATGAATCTAGCATGGATAAGGCAAAGAAATCAATAACCAACAGTGACATTGTTTCCATTTCAAA
AAAAATAACTATGCTGGAAATGAAGGAATTAAATGAAAGGCAGCGGGCTGAACATTGTCAAAAAATGTATGAACACTTACGGACTTCGTT
AAAGCAAATGGAGGAACGTAATTTTGAATTGGAAACCAAATTTGCTGAGAATTCTCCACTTTACCAATACTTACAGGATCTGGGACACAC
AGACTTTGAAATATGTTCTTCTTTGTCACCAAAAACAGAAAAATGCACAACAGAGGGACAACAAAAGCCTCCTACAAGAGTCCTACCAAA
ACAAGGTATCCTGTTAAAAGTGGCTGAAACCATCAAAAGTTGGATTTTTTTTTCTCAGTGCAATAAGAAAGATGACTTACTTCACAAGTT
GGATATTGGATTCCGACTCGACTCATTACATACCATCCTGCAACAGGAAGTCCTGTTACAAGAGGATGTGGAGCTGATTGAGCTACTTGA
TCCCAGTATCCTGTCTGCAGGGCAATCTCAACAACAGGAAAATGGACACCTTCCAACACTTTGCTCCCTGGCAACCCCTAATATTTGGGA
TCTCTCAATGCTATTTGCCTTCATTAGCTTGCTCGTTATGCTTCCCACTTGGTGGATTGTGTCTTCCTGGCTGGTATGGGGAGTGATTCT
ATTTGTGTATCTGGTCATAAGAGCTTTGAGATTATGGAGGACAGCCAAACTACAAGTGACCCTAAAAAAATACAGCGTTCATTTGGAAGA
TATGGCCACAAACAGCCGAGCTTTTACTAACCTCGTGAGAAAAGCTTTACGTCTCATTCAAGAAACCGAAGTGATTTCCAGAGGATTTAC
ACTGGTCAGTGCTGCTTGCCCATTTAATAAAGCTGGACAGCATCCAAGTCAGCATCTCATCGGTCTTCGGAAAGCTGTCTACCGAACTCT
AAGAGCCAACTTCCAAGCAGCAAGGCTAGCTACCCTATATATGCTGAAAAACTACCCCCTGAACTCTGAGAGTGACAATGTAACCAACTA
CATCTGTGTGGTGCCTTTTAAAGAGCTGGGCCTTGGACTTAGTGAAGAGCAGATTTCAGAAGAGGAAGCACATAACTTTACAGATGGCTT
CAGCCTGCCTGCATTGAAGGTTTTGTTCCAACTCTGGGTGGCACAGAGTTCAGAGTTCTTCAGACGGTTAGCCCTATTACTTTCTACAGC
CAATTCACCTCCTGGGCCCTTACTTACTCCAGCACTTCTGCCTCATCGTATCTTATCTGATGTGACTCAAGGTCTACCTCATGCTCATTC
TGCCTGTTTGGAAGAGCTTAAGCGCAGCTATGAGTTCTATCGGTACTTTGAAACTCAGCACCAGTCAGTACCGCAGTGTTTATCCAAAAC
TCAACAGAAGTCAAGAGAACTGAATAATGTTCACACAGCAGTGCGTAGCTTGCAGCTCCATCTGAAAGCATTACTGAATGAGGTAATAAT
TCTTGAAGATGAACTTGAAAAGCTTGTTTGTACTAAAGAAACACAAGAACTAGTGTCAGAGGCTTATCCCATCCTAGAACAGAAATTAAA
GTTGATTCAGCCCCACGTTCAAGCAAGCAACAATTGCTGGGAAGAGGCCATTTCTCAGGTCGACAAACTGCTACGAAGAAATACAGATAA
AAAAGGCAAGCCTGAAATAGCATGTGAAAACCCACATTGTACAGTAGTACCTTTGAAGCAGCCTACTCTACACATTGCAGACAAAGATCC
AATCCCAGAGGAGCAGGAATTAGAAGCTTATGTAGATGATATAGATATTGATAGTGATTTCAGAAAGGATGATTTTTATTACTTGTCTCA
AGAAGACAAAGAGAGACAGAAGCGTGAGCATGAAGAATCCAAGAGGGTGCTCCAAGAATTAAAATCTGTGCTGGGATTTAAAGCTTCAGA
GGCAGAAAGGCAGAAGTGGAAGCAACTTCTATTTAGTGATCATGCCGTGTTGAAATCCTTGTCTCCTGTAGACCCAGTGGAACCCATAAG
TAATTCAGAACCATCAATGAATTCAGATATGGGAAAAGTCAGTAAAAATGATACTGAAGAGGAAAGTAATAAATCCGCCACAACAGACAA
TGAAATAAGTAGGACTGAGTATTTATGTGAAAACTCTCTAGAAGGTAAAAATAAAGATAATTCTTCAAATGAAGTCTTCCCCCAAGGAGC
AGAAGAAAGAATGTGTTACCAATGTGAGAGTGAAGATGAACCACAAGCAGATGGAAGTGGTCTGACCACTGCCCCTCCAACTCCCAGGGA
CTCATTACAGCCCTCCATTAAGCAGAGGCTGGCACGGCTACAGCTGTCACCAGATTTTACCTTCACTGCTGGCCTTGCTGCAGAAGTGGC
TGCTAGATCTCTCTCCTTTACCACCATGCAGGAACAGACTTTTGGTGGTGAGGAGGAAGAACAAATAATAGAAGAAAATAAAAATGAGAT
AGAAGAAAAGTAAGAACCAAGATTCATATGAAGTGATATTAGATTGTTCCTTTTACAAAAGTGTTTAGCTTCAAGACTGGAAAGGGAATA
TGAGTGTAAGTTTACTATATATAAAGCTAAGATGTGGATTTACAGGAAGAACCCTGGTTTGAATAACTGATCTGAAATTAGTAGTTACCT
GTAAATGGCAGATCTTTTAGGAAAATAAGAGAAAGGTAAGGGCTCTTTTGAATAAACTGCTGTTTTATTTGTGGCACAACTGATCAATCT
TGGAAATTCTTTAAGTATTTTTAATAAGAAATGAATTATCATTTCTTGCCAGAATTTGCTACCTTAAGGTGATTGGGAAAATTCTGTTGC
AAGAACATTAACATTTAGTATGACTCCTTTTTACTGTATTCTTGCAGTTAATAACTGCAGCTATTATGTTAATAACAAGTTGTTTGTATT
TTATTTTTGTTTATACCAGTCTTAAAGATCCAGGTTCTGAATAAAAAAATTAATTGATACAATTGATGTGTGCTGGGGTTTGGAACTAAA
AGTAGTTTCAACAGTGCGTGGGTTATGACATTTCTTATGTTTCTTTGTTCATGTGTGTATTTAGTAGTTAATTTTAAGATGTCCTAGTGA
TCTTTAAAAGAAAAATATTGTACCATTTTTTAGAATTACACTTTCACCTTTCTTTTTGCAATTGAAAGTGATGATGTCAAAGTGGGATTT
CTGTACTCCAAGGCCCCACCCCCAATTTAGCAAGCAGAAAAACGTTCCTTGTATCACTTTACCTTGGATAATTGGGTGCCATTAACACAA
ACAGGTCACAATCCTGCTGTTTTCTAGCCCTGTCCACCATAATGAGATTCAGGAAACATCCTGTCAGCCTCCTGGAAAGCATCCTTGTCT
CCTTAGTATTTCATTTACAAACTACCTCTTAACAGAGACTGCTTTTCAAATTGGCCAATCTTACCTGTTTTGTGTTGTGATTGCATTTTC
AAAGAGTAATTATTTTCAGCATATACAGTTTTGAAACCTGTAGCTCCTATGCAATAACATAGTTCTATAGACATTATTTGGGGGAAATGT
AGTAATAACTCAATCTATGTTGCTGTCCTAGAAAGGAAATTGCATGATGAATCTAGATTGTCTTTAGAGTAAAGAAACACATTCAAATTC
CTGTAACTTATCACTTTCAGTGAGTAAATTTACTTATACCAAAGGGGATTTTTTTTCTTTCAGGAATCTAAGGAAATTTACTTTTTAACC
TGAGAAAAAAACTTGGTTCTGCTTTATATAAACAGTAGAGATTATTGTACTATAAGTGATTTTGCCTTTTTGCCAAAATCCTGGAACTCA
TCTATAATTAACCTCTTCGGAGCAATACCTTAGGTTGGGCCTTGCTTTACTACTTAGAAATAGCTAAATTTCAATTTTAAAAATCTTTGT
GTGTTATAACTGTTAAATTATTCAATAATACTTAGGGTTTACTTTCTTATTTAAATCACTTATTTAGTTTACCGACTTCATTTTTCTTTG
GATTTAGAAGAAGCAATTATGGAAAAACTTGGTAATCTCTCTCAACCTATAACCTTACACAGGAAGAATTAGAGTTTAATAATTTTTAAT
TCTTTTATTGTATGTTACTTTTATTACACCAGTTTGGGGGAAAATCTTCATAAAATTGTATCAGTTTTATTCAGTGTTCTCTAAGGTGAT
ACCTTTTAATTTTGAAAGACTAAATAATTTTAATCGAGAATTTCCAGTCTTTCAGTCTGATCTATTTAATTCACTACTTGTTACATAATC
CAGTGAAAACTCTACTTGTTGAAATTATGACATAAAGATCTTGCAGCTTTATTTGAGTATTTGTTCTTTTGTGTAGTTTCCATCTTTTAA
AATATTTAAAATATTTTCAAGATAAAGTATTATCTTCTCTGCAAAAATTCCTGGAGTAATTTTCTCTCATAATATTTGAAGTCAGTGGTT
CTCAGTTGTATTAGTGGGGTAACTACATCAAAATAAATAAAGTCTTATTTTTAAAATGCAAATTTTAGACCATACTCCCAGTGATTCTTA
GTTGGTCTTTTTGGAATGAGCCATAGGTAATGTTTATGTCCAATAAAATCTAGGAACCTC

>15837_15837_2_CEP290-VEZT_CEP290_chr12_88487547_ENST00000547691_VEZT_chr12_95645716_ENST00000436874_length(amino acids)=930AA_BP=163
MAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQ
ETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAENSPLYQYLQDLGHTDFE
ICSSLSPKTEKCTTEGQQKPPTRVLPKQGILLKVAETIKSWIFFSQCNKKDDLLHKLDIGFRLDSLHTILQQEVLLQEDVELIELLDPSI
LSAGQSQQQENGHLPTLCSLATPNIWDLSMLFAFISLLVMLPTWWIVSSWLVWGVILFVYLVIRALRLWRTAKLQVTLKKYSVHLEDMAT
NSRAFTNLVRKALRLIQETEVISRGFTLVSAACPFNKAGQHPSQHLIGLRKAVYRTLRANFQAARLATLYMLKNYPLNSESDNVTNYICV
VPFKELGLGLSEEQISEEEAHNFTDGFSLPALKVLFQLWVAQSSEFFRRLALLLSTANSPPGPLLTPALLPHRILSDVTQGLPHAHSACL
EELKRSYEFYRYFETQHQSVPQCLSKTQQKSRELNNVHTAVRSLQLHLKALLNEVIILEDELEKLVCTKETQELVSEAYPILEQKLKLIQ
PHVQASNNCWEEAISQVDKLLRRNTDKKGKPEIACENPHCTVVPLKQPTLHIADKDPIPEEQELEAYVDDIDIDSDFRKDDFYYLSQEDK
ERQKREHEESKRVLQELKSVLGFKASEAERQKWKQLLFSDHAVLKSLSPVDPVEPISNSEPSMNSDMGKVSKNDTEEESNKSATTDNEIS
RTEYLCENSLEGKNKDNSSNEVFPQGAEERMCYQCESEDEPQADGSGLTTAPPTPRDSLQPSIKQRLARLQLSPDFTFTAGLAAEVAARS
LSFTTMQEQTFGGEEEEQIIEENKNEIEEK

--------------------------------------------------------------

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Fusion Gene PPI Analysis for CEP290-VEZT

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
Hgene	CEP290	chr12:88487547	chr12:95645716	ENST00000552810	-	28	54	696_896	1103.0	2480.0	IQCB1

- Lost PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Hgene	CEP290	chr12:88487547	chr12:95645716	ENST00000397838	-	20	46	696_896	163.0	1540.0	IQCB1
Hgene	CEP290	chr12:88487547	chr12:95645716	ENST00000547691	-	3	29	696_896	163.0	1540.0	IQCB1

- 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 CEP290-VEZT

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 CEP290-VEZT

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	CEP290	C1857780	JOUBERT SYNDROME 5	11	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	CEP290	C1857779	SENIOR-LOKEN SYNDROME 6	7	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	CEP290	C1857821	LEBER CONGENITAL AMAUROSIS 10 (disorder)	7	CTD_human;GENOMICS_ENGLAND
Hgene	CEP290	C1970161	MECKEL SYNDROME, TYPE 4	6	CTD_human;GENOMICS_ENGLAND
Hgene	CEP290	C0265215	Meckel-Gruber syndrome	3	ORPHANET
Hgene	CEP290	C0403553	Renal dysplasia and retinal aplasia (disorder)	3	GENOMICS_ENGLAND;ORPHANET
Hgene	CEP290	C1855675	Arima syndrome	3	GENOMICS_ENGLAND;ORPHANET
Hgene	CEP290	C2673874	BARDET-BIEDL SYNDROME 14 (disorder)	3	CTD_human;GENOMICS_ENGLAND
Hgene	CEP290	C0339527	Leber Congenital Amaurosis	2	GENOMICS_ENGLAND;ORPHANET
Hgene	CEP290	C2936862	Bardet-Biedl syndrome 1 (disorder)	2	GENOMICS_ENGLAND
Hgene	CEP290	C3714506	Meckel syndrome type 1	2	GENOMICS_ENGLAND
Hgene	CEP290	C0015397	Disorder of eye	1	GENOMICS_ENGLAND
Hgene	CEP290	C0752166	Bardet-Biedl Syndrome	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:CEP290-VEZT (FusionGDB2 ID:HG80184TG55591)

Fusion Gene Summary for CEP290-VEZT

Fusion Gene ORF analysis for CEP290-VEZT

Fusion Genomic Features for CEP290-VEZT

Fusion Protein Features for CEP290-VEZT

Fusion Gene Sequence for CEP290-VEZT

Fusion Gene PPI Analysis for CEP290-VEZT

Related Drugs for CEP290-VEZT

Related Diseases for CEP290-VEZT

Fusion Gene Studies
in Kim Lab