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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CNOT2-CEP290 (FusionGDB2 ID:17726)

Fusion Gene Summary for CNOT2-CEP290

check button Fusion gene summary
Fusion gene informationFusion gene name: CNOT2-CEP290
Fusion gene ID: 17726
HgeneTgene
Gene symbol

CNOT2

CEP290

Gene ID

4848

80184

Gene nameCCR4-NOT transcription complex subunit 2centrosomal protein 290
SynonymsCDC36|HSPC131|IDNADFS|NOT2|NOT2H3H11Ag|BBS14|CT87|JBTS5|LCA10|MKS4|NPHP6|POC3|SLSN6|rd16
Cytomap

12q15

12q21.32

Type of geneprotein-codingprotein-coding
DescriptionCCR4-NOT transcription complex subunit 2CCR4-associated factor 2negative regulator of transcription 2centrosomal 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
Modification date2020031320200328
UniProtAcc

Q9NZN8

O15078

Ensembl transtripts involved in fusion geneENST00000229195, ENST00000418359, 
ENST00000548230, ENST00000551483, 
ENST00000309041, ENST00000397838, 
ENST00000547691, ENST00000552810, 
Fusion gene scores* DoF score41 X 13 X 11=58639 X 9 X 6=486
# samples 469
** MAII scorelog2(46/5863*10)=-3.6719332904521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/486*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CNOT2 [Title/Abstract] AND CEP290 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCNOT2(70672054)-CEP290(88483264), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCNOT2

GO:0000122

negative regulation of transcription by RNA polymerase II

14707134|16712523

TgeneCEP290

GO:0045893

positive regulation of transcription, DNA-templated

16682973

TgeneCEP290

GO:0060271

cilium assembly

26386044


check buttonFusion gene breakpoints across CNOT2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CEP290 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-WK-A8XO-01ACNOT2chr12

70672054

+CEP290chr12

88483264

-


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Fusion Gene ORF analysis for CNOT2-CEP290

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000229195ENST00000309041CNOT2chr12

70672054

+CEP290chr12

88483264

-
In-frameENST00000229195ENST00000397838CNOT2chr12

70672054

+CEP290chr12

88483264

-
In-frameENST00000229195ENST00000547691CNOT2chr12

70672054

+CEP290chr12

88483264

-
In-frameENST00000229195ENST00000552810CNOT2chr12

70672054

+CEP290chr12

88483264

-
In-frameENST00000418359ENST00000309041CNOT2chr12

70672054

+CEP290chr12

88483264

-
In-frameENST00000418359ENST00000397838CNOT2chr12

70672054

+CEP290chr12

88483264

-
In-frameENST00000418359ENST00000547691CNOT2chr12

70672054

+CEP290chr12

88483264

-
In-frameENST00000418359ENST00000552810CNOT2chr12

70672054

+CEP290chr12

88483264

-
intron-3CDSENST00000548230ENST00000309041CNOT2chr12

70672054

+CEP290chr12

88483264

-
intron-3CDSENST00000548230ENST00000397838CNOT2chr12

70672054

+CEP290chr12

88483264

-
intron-3CDSENST00000548230ENST00000547691CNOT2chr12

70672054

+CEP290chr12

88483264

-
intron-3CDSENST00000548230ENST00000552810CNOT2chr12

70672054

+CEP290chr12

88483264

-
intron-3CDSENST00000551483ENST00000309041CNOT2chr12

70672054

+CEP290chr12

88483264

-
intron-3CDSENST00000551483ENST00000397838CNOT2chr12

70672054

+CEP290chr12

88483264

-
intron-3CDSENST00000551483ENST00000547691CNOT2chr12

70672054

+CEP290chr12

88483264

-
intron-3CDSENST00000551483ENST00000552810CNOT2chr12

70672054

+CEP290chr12

88483264

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000229195CNOT2chr1270672054+ENST00000547691CEP290chr1288483264-466262754044931317
ENST00000229195CNOT2chr1270672054+ENST00000552810CEP290chr1288483264-465862754044931317
ENST00000229195CNOT2chr1270672054+ENST00000397838CEP290chr1288483264-449462754044931317
ENST00000229195CNOT2chr1270672054+ENST00000309041CEP290chr1288483264-449462754044931317
ENST00000418359CNOT2chr1270672054+ENST00000547691CEP290chr1288483264-453449941243651317
ENST00000418359CNOT2chr1270672054+ENST00000552810CEP290chr1288483264-453049941243651317
ENST00000418359CNOT2chr1270672054+ENST00000397838CEP290chr1288483264-436649941243651318
ENST00000418359CNOT2chr1270672054+ENST00000309041CEP290chr1288483264-436649941243651318

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000229195ENST00000547691CNOT2chr1270672054+CEP290chr1288483264-0.0023363070.99766374
ENST00000229195ENST00000552810CNOT2chr1270672054+CEP290chr1288483264-0.0023452340.9976547
ENST00000229195ENST00000397838CNOT2chr1270672054+CEP290chr1288483264-0.0028542260.9971457
ENST00000229195ENST00000309041CNOT2chr1270672054+CEP290chr1288483264-0.0028542260.9971457
ENST00000418359ENST00000547691CNOT2chr1270672054+CEP290chr1288483264-0.0020858140.99791414
ENST00000418359ENST00000552810CNOT2chr1270672054+CEP290chr1288483264-0.0020880830.9979119
ENST00000418359ENST00000397838CNOT2chr1270672054+CEP290chr1288483264-0.0026116250.9973884
ENST00000418359ENST00000309041CNOT2chr1270672054+CEP290chr1288483264-0.0026116250.9973884

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Fusion Genomic Features for CNOT2-CEP290


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution 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.
genomic feature

check buttonDistribution 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 CNOT2-CEP290


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:70672054/chr12:88483264)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CNOT2

Q9NZN8

CEP290

O15078

FUNCTION: Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Required for the CCR4-NOT complex structural integrity. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may specifically involve the N-Cor repressor complex containing HDAC3, NCOR1 and NCOR2. Involved in the maintenance of embryonic stem (ES) cell identity. {ECO:0000269|PubMed:14707134, ECO:0000269|PubMed:16712523, ECO:0000269|PubMed:21299754, ECO:0000269|PubMed:22367759}.FUNCTION: Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973). {ECO:0000250|UniProtKB:Q6A078, ECO:0000269|PubMed:16682973, ECO:0000269|PubMed:17705300, ECO:0000269|PubMed:18694559, ECO:0000269|PubMed:24421332, ECO:0000269|PubMed:25552655}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCEP290chr12:70672054chr12:88483264ENST0000039783821461071_14982511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST0000039783821461533_15842511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST0000039783821461635_24522511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST000003978382146598_6642511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST000003978382146697_9312511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST000003978382146958_10272511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST000005476914291071_14982511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST000005476914291533_15842511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST000005476914291635_24522511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST00000547691429598_6642511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST00000547691429697_9312511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST00000547691429958_10272511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST0000055281029541533_158411912480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST0000055281029541635_245211912480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST0000039783821461966_24792511540.0RegionSelf-association (with itself or N-terminus)
TgeneCEP290chr12:70672054chr12:88483264ENST000005476914291966_24792511540.0RegionSelf-association (with itself or N-terminus)
TgeneCEP290chr12:70672054chr12:88483264ENST0000055281029541966_247911912480.0RegionSelf-association (with itself or N-terminus)

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCNOT2chr12:70672054chr12:88483264ENST00000229195+216437_54016541.0RegionNote=Repressor domain
HgeneCNOT2chr12:70672054chr12:88483264ENST00000418359+317437_54016541.0RegionNote=Repressor domain
HgeneCNOT2chr12:70672054chr12:88483264ENST00000551483+17437_5400192.0RegionNote=Repressor domain
TgeneCEP290chr12:70672054chr12:88483264ENST00000397838214659_5652511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST0000054769142959_5652511540.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST0000055281029541071_149811912480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST000005528102954598_66411912480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST00000552810295459_56511912480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST000005528102954697_93111912480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST000005528102954958_102711912480.0Coiled coilOntology_term=ECO:0000255
TgeneCEP290chr12:70672054chr12:88483264ENST0000039783821461_6952511540.0RegionSelf-association (with itself or C-terminus)
TgeneCEP290chr12:70672054chr12:88483264ENST000005476914291_6952511540.0RegionSelf-association (with itself or C-terminus)
TgeneCEP290chr12:70672054chr12:88483264ENST0000055281029541_69511912480.0RegionSelf-association (with itself or C-terminus)


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Fusion Gene Sequence for CNOT2-CEP290


check button 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.
>17726_17726_1_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000229195_CEP290_chr12_88483264_ENST00000309041_length(transcript)=4494nt_BP=627nt
AACACAAACACAAACACGAACACGAACACGCTCAGCGTCCCCGGGGAGGGCGGACTGAAGCCACCTCACCATTCATCGCCCCTGGACCCC
GCAGTCCCCCTCGGACTCAGGGCCAGAGCCTTCTGCGAAGCAACCTAGCCCCAGGGAAACGGTAGCGGCCGCAGAAGCCCCGCTCTCTGT
AACGGCCGCGGAGGAGCAGCAAGCCTCCCTGTGAGTCGGTGGGAGACAAGACGGAGCGGCGGTAAGGGCGGTAGGGAAGTGAAGCGCCTC
TCTCCACCTTGTTAGAAGCGCGCTGAAAGCGGCCTGCCTACCCACCCCATCGCTGCCGTTTTGCAGTCGTCGCTCCCACCTTCCGCTGCC
GCCTGGAGGGAAGCCGGAGCGACGGGGGTCACGGCGGCGGTCAGAGGGTAAAGGTCTTGCTCCCAGCAGCCTCCGCGGTGGATACGTCGC
CATCTTGGATCCGCGGGACAAGAAAATTCATGCGAGGGAGACGTGGTGGGCGGTCCTTCCTGTGACACGACCCTTGAGTGACAGTTCTAT
TTGATTGCCTCCGGTACTGTGAGGAAAGGACACGACTCTATGGTGAGGACTGATGGACATACATTATCTGAGAAAAGAAACTACCAGGCA
CAGTCTGATGAAAAGTCGCTCATTGCCAAGTTGCACCAACATAATGTCTCTCTTCAACTGAGTGAGGCTACTGCTCTTGGTAAGTTGGAG
TCAATTACATCTAAACTGCAGAAGATGGAGGCCTACAACTTGCGCTTAGAGCAGAAACTTGATGAAAAAGAACAGGCTCTCTATTATGCT
CGTTTGGAGGGAAGAAACAGAGCAAAACATCTGCGCCAAACAATTCAGTCTCTACGACGACAGTTTAGTGGAGCTTTACCCTTGGCACAA
CAGGAAAAGTTCTCCAAAACAATGATTCAACTACAAAATGACAAACTTAAGATAATGCAAGAAATGAAAAATTCTCAACAAGAACATAGA
AATATGGAGAACAAAACATTGGAGATGGAATTAAAATTAAAGGGCCTGGAAGAGTTAATAAGCACTTTAAAGGATACCAAAGGAGCCCAA
AAGGTAATCAACTGGCATATGAAAATAGAAGAACTTCGTCTTCAAGAACTTAAACTAAATCGGGAATTAGTCAAGGATAAAGAAGAAATA
AAATATTTGAATAACATAATTTCTGAATATGAACGTACAATCAGCAGTCTTGAAGAAGAAATTGTGCAACAGAACAAGTTTCATGAAGAA
AGACAAATGGCCTGGGATCAAAGAGAAGTTGACCTGGAACGCCAACTAGACATTTTTGACCGTCAGCAAAATGAAATACTAAATGCGGCA
CAAAAGTTTGAAGAAGCTACAGGATCAATCCCTGACCCTAGTTTGCCCCTTCCAAATCAACTTGAGATCGCTCTAAGGAAAATTAAGGAG
AACATTCGAATAATTCTAGAAACACGGGCAACTTGCAAATCACTAGAAGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAA
CAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTA
GGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAA
GAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCAT
ATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACT
CCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTC
AAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTT
CAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAG
TGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGC
CAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGT
ATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAA
GATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTA
AATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGG
CAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAA
AAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGG
GAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAG
TTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGAT
CAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTAT
ATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTA
GAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAG
AAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAA
GTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGA
AGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAA
AAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCT
CATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAA
CTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAA
GAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACA
AGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAA
GCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAG
ACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATA
GAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTC
AAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAA
GAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTG

>17726_17726_1_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000229195_CEP290_chr12_88483264_ENST00000309041_length(amino acids)=1317AA_BP=27
MIASGTVRKGHDSMVRTDGHTLSEKRNYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYA
RLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQ
KVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAA
QKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAEL
GRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPT
PVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQ
CLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVE
DLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVK
KLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVD
QVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQ
KENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLK
KASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLE
ETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAE
TEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFE

--------------------------------------------------------------
>17726_17726_2_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000229195_CEP290_chr12_88483264_ENST00000397838_length(transcript)=4494nt_BP=627nt
AACACAAACACAAACACGAACACGAACACGCTCAGCGTCCCCGGGGAGGGCGGACTGAAGCCACCTCACCATTCATCGCCCCTGGACCCC
GCAGTCCCCCTCGGACTCAGGGCCAGAGCCTTCTGCGAAGCAACCTAGCCCCAGGGAAACGGTAGCGGCCGCAGAAGCCCCGCTCTCTGT
AACGGCCGCGGAGGAGCAGCAAGCCTCCCTGTGAGTCGGTGGGAGACAAGACGGAGCGGCGGTAAGGGCGGTAGGGAAGTGAAGCGCCTC
TCTCCACCTTGTTAGAAGCGCGCTGAAAGCGGCCTGCCTACCCACCCCATCGCTGCCGTTTTGCAGTCGTCGCTCCCACCTTCCGCTGCC
GCCTGGAGGGAAGCCGGAGCGACGGGGGTCACGGCGGCGGTCAGAGGGTAAAGGTCTTGCTCCCAGCAGCCTCCGCGGTGGATACGTCGC
CATCTTGGATCCGCGGGACAAGAAAATTCATGCGAGGGAGACGTGGTGGGCGGTCCTTCCTGTGACACGACCCTTGAGTGACAGTTCTAT
TTGATTGCCTCCGGTACTGTGAGGAAAGGACACGACTCTATGGTGAGGACTGATGGACATACATTATCTGAGAAAAGAAACTACCAGGCA
CAGTCTGATGAAAAGTCGCTCATTGCCAAGTTGCACCAACATAATGTCTCTCTTCAACTGAGTGAGGCTACTGCTCTTGGTAAGTTGGAG
TCAATTACATCTAAACTGCAGAAGATGGAGGCCTACAACTTGCGCTTAGAGCAGAAACTTGATGAAAAAGAACAGGCTCTCTATTATGCT
CGTTTGGAGGGAAGAAACAGAGCAAAACATCTGCGCCAAACAATTCAGTCTCTACGACGACAGTTTAGTGGAGCTTTACCCTTGGCACAA
CAGGAAAAGTTCTCCAAAACAATGATTCAACTACAAAATGACAAACTTAAGATAATGCAAGAAATGAAAAATTCTCAACAAGAACATAGA
AATATGGAGAACAAAACATTGGAGATGGAATTAAAATTAAAGGGCCTGGAAGAGTTAATAAGCACTTTAAAGGATACCAAAGGAGCCCAA
AAGGTAATCAACTGGCATATGAAAATAGAAGAACTTCGTCTTCAAGAACTTAAACTAAATCGGGAATTAGTCAAGGATAAAGAAGAAATA
AAATATTTGAATAACATAATTTCTGAATATGAACGTACAATCAGCAGTCTTGAAGAAGAAATTGTGCAACAGAACAAGTTTCATGAAGAA
AGACAAATGGCCTGGGATCAAAGAGAAGTTGACCTGGAACGCCAACTAGACATTTTTGACCGTCAGCAAAATGAAATACTAAATGCGGCA
CAAAAGTTTGAAGAAGCTACAGGATCAATCCCTGACCCTAGTTTGCCCCTTCCAAATCAACTTGAGATCGCTCTAAGGAAAATTAAGGAG
AACATTCGAATAATTCTAGAAACACGGGCAACTTGCAAATCACTAGAAGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAA
CAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTA
GGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAA
GAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCAT
ATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACT
CCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTC
AAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTT
CAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAG
TGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGC
CAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGT
ATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAA
GATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTA
AATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGG
CAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAA
AAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGG
GAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAG
TTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGAT
CAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTAT
ATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTA
GAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAG
AAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAA
GTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGA
AGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAA
AAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCT
CATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAA
CTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAA
GAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACA
AGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAA
GCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAG
ACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATA
GAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTC
AAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAA
GAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTG

>17726_17726_2_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000229195_CEP290_chr12_88483264_ENST00000397838_length(amino acids)=1317AA_BP=27
MIASGTVRKGHDSMVRTDGHTLSEKRNYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYA
RLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQ
KVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAA
QKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAEL
GRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPT
PVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQ
CLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVE
DLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVK
KLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVD
QVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQ
KENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLK
KASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLE
ETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAE
TEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFE

--------------------------------------------------------------
>17726_17726_3_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000229195_CEP290_chr12_88483264_ENST00000547691_length(transcript)=4662nt_BP=627nt
AACACAAACACAAACACGAACACGAACACGCTCAGCGTCCCCGGGGAGGGCGGACTGAAGCCACCTCACCATTCATCGCCCCTGGACCCC
GCAGTCCCCCTCGGACTCAGGGCCAGAGCCTTCTGCGAAGCAACCTAGCCCCAGGGAAACGGTAGCGGCCGCAGAAGCCCCGCTCTCTGT
AACGGCCGCGGAGGAGCAGCAAGCCTCCCTGTGAGTCGGTGGGAGACAAGACGGAGCGGCGGTAAGGGCGGTAGGGAAGTGAAGCGCCTC
TCTCCACCTTGTTAGAAGCGCGCTGAAAGCGGCCTGCCTACCCACCCCATCGCTGCCGTTTTGCAGTCGTCGCTCCCACCTTCCGCTGCC
GCCTGGAGGGAAGCCGGAGCGACGGGGGTCACGGCGGCGGTCAGAGGGTAAAGGTCTTGCTCCCAGCAGCCTCCGCGGTGGATACGTCGC
CATCTTGGATCCGCGGGACAAGAAAATTCATGCGAGGGAGACGTGGTGGGCGGTCCTTCCTGTGACACGACCCTTGAGTGACAGTTCTAT
TTGATTGCCTCCGGTACTGTGAGGAAAGGACACGACTCTATGGTGAGGACTGATGGACATACATTATCTGAGAAAAGAAACTACCAGGCA
CAGTCTGATGAAAAGTCGCTCATTGCCAAGTTGCACCAACATAATGTCTCTCTTCAACTGAGTGAGGCTACTGCTCTTGGTAAGTTGGAG
TCAATTACATCTAAACTGCAGAAGATGGAGGCCTACAACTTGCGCTTAGAGCAGAAACTTGATGAAAAAGAACAGGCTCTCTATTATGCT
CGTTTGGAGGGAAGAAACAGAGCAAAACATCTGCGCCAAACAATTCAGTCTCTACGACGACAGTTTAGTGGAGCTTTACCCTTGGCACAA
CAGGAAAAGTTCTCCAAAACAATGATTCAACTACAAAATGACAAACTTAAGATAATGCAAGAAATGAAAAATTCTCAACAAGAACATAGA
AATATGGAGAACAAAACATTGGAGATGGAATTAAAATTAAAGGGCCTGGAAGAGTTAATAAGCACTTTAAAGGATACCAAAGGAGCCCAA
AAGGTAATCAACTGGCATATGAAAATAGAAGAACTTCGTCTTCAAGAACTTAAACTAAATCGGGAATTAGTCAAGGATAAAGAAGAAATA
AAATATTTGAATAACATAATTTCTGAATATGAACGTACAATCAGCAGTCTTGAAGAAGAAATTGTGCAACAGAACAAGTTTCATGAAGAA
AGACAAATGGCCTGGGATCAAAGAGAAGTTGACCTGGAACGCCAACTAGACATTTTTGACCGTCAGCAAAATGAAATACTAAATGCGGCA
CAAAAGTTTGAAGAAGCTACAGGATCAATCCCTGACCCTAGTTTGCCCCTTCCAAATCAACTTGAGATCGCTCTAAGGAAAATTAAGGAG
AACATTCGAATAATTCTAGAAACACGGGCAACTTGCAAATCACTAGAAGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAA
CAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTA
GGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAA
GAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCAT
ATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACT
CCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTC
AAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTT
CAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAG
TGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGC
CAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGT
ATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAA
GATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTA
AATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGG
CAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAA
AAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGG
GAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAG
TTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGAT
CAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTAT
ATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTA
GAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAG
AAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAA
GTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGA
AGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAA
AAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCT
CATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAA
CTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAA
GAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACA
AGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAA
GCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAG
ACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATA
GAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTC
AAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAA
GAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTG
GGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGAAGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCA
CCTATAAACTTTGTTTCATTTAACTATTTATTAACTTTATAAGTTAAATATACTTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCT

>17726_17726_3_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000229195_CEP290_chr12_88483264_ENST00000547691_length(amino acids)=1317AA_BP=27
MIASGTVRKGHDSMVRTDGHTLSEKRNYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYA
RLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQ
KVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAA
QKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAEL
GRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPT
PVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQ
CLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVE
DLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVK
KLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVD
QVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQ
KENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLK
KASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLE
ETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAE
TEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFE

--------------------------------------------------------------
>17726_17726_4_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000229195_CEP290_chr12_88483264_ENST00000552810_length(transcript)=4658nt_BP=627nt
AACACAAACACAAACACGAACACGAACACGCTCAGCGTCCCCGGGGAGGGCGGACTGAAGCCACCTCACCATTCATCGCCCCTGGACCCC
GCAGTCCCCCTCGGACTCAGGGCCAGAGCCTTCTGCGAAGCAACCTAGCCCCAGGGAAACGGTAGCGGCCGCAGAAGCCCCGCTCTCTGT
AACGGCCGCGGAGGAGCAGCAAGCCTCCCTGTGAGTCGGTGGGAGACAAGACGGAGCGGCGGTAAGGGCGGTAGGGAAGTGAAGCGCCTC
TCTCCACCTTGTTAGAAGCGCGCTGAAAGCGGCCTGCCTACCCACCCCATCGCTGCCGTTTTGCAGTCGTCGCTCCCACCTTCCGCTGCC
GCCTGGAGGGAAGCCGGAGCGACGGGGGTCACGGCGGCGGTCAGAGGGTAAAGGTCTTGCTCCCAGCAGCCTCCGCGGTGGATACGTCGC
CATCTTGGATCCGCGGGACAAGAAAATTCATGCGAGGGAGACGTGGTGGGCGGTCCTTCCTGTGACACGACCCTTGAGTGACAGTTCTAT
TTGATTGCCTCCGGTACTGTGAGGAAAGGACACGACTCTATGGTGAGGACTGATGGACATACATTATCTGAGAAAAGAAACTACCAGGCA
CAGTCTGATGAAAAGTCGCTCATTGCCAAGTTGCACCAACATAATGTCTCTCTTCAACTGAGTGAGGCTACTGCTCTTGGTAAGTTGGAG
TCAATTACATCTAAACTGCAGAAGATGGAGGCCTACAACTTGCGCTTAGAGCAGAAACTTGATGAAAAAGAACAGGCTCTCTATTATGCT
CGTTTGGAGGGAAGAAACAGAGCAAAACATCTGCGCCAAACAATTCAGTCTCTACGACGACAGTTTAGTGGAGCTTTACCCTTGGCACAA
CAGGAAAAGTTCTCCAAAACAATGATTCAACTACAAAATGACAAACTTAAGATAATGCAAGAAATGAAAAATTCTCAACAAGAACATAGA
AATATGGAGAACAAAACATTGGAGATGGAATTAAAATTAAAGGGCCTGGAAGAGTTAATAAGCACTTTAAAGGATACCAAAGGAGCCCAA
AAGGTAATCAACTGGCATATGAAAATAGAAGAACTTCGTCTTCAAGAACTTAAACTAAATCGGGAATTAGTCAAGGATAAAGAAGAAATA
AAATATTTGAATAACATAATTTCTGAATATGAACGTACAATCAGCAGTCTTGAAGAAGAAATTGTGCAACAGAACAAGTTTCATGAAGAA
AGACAAATGGCCTGGGATCAAAGAGAAGTTGACCTGGAACGCCAACTAGACATTTTTGACCGTCAGCAAAATGAAATACTAAATGCGGCA
CAAAAGTTTGAAGAAGCTACAGGATCAATCCCTGACCCTAGTTTGCCCCTTCCAAATCAACTTGAGATCGCTCTAAGGAAAATTAAGGAG
AACATTCGAATAATTCTAGAAACACGGGCAACTTGCAAATCACTAGAAGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAA
CAAAATATACTGTCAAGAGACAAAGTAATCAATGAACTGAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTA
GGCAGAAAAGAGATGGAACCAAAATCTCACCACACATTGAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAA
GAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAAAGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCAT
ATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTCACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACT
CCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGAGATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTC
AAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAGAGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTT
CAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGCGGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAG
TGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAATTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGC
CAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAGTCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGT
ATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAATGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAA
GATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACTTAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTA
AATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAAAATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGG
CAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACCCCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAA
AAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGTAGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGG
GAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAATTCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAG
TTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAAAGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGAT
CAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGAATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTAT
ATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGTAGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTA
GAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTCAATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAG
AAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACTGAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAA
GTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAAAGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGA
AGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGGTTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAA
AAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAATATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCT
CATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAAGACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAA
CTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGATAGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAA
GAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGGTCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACA
AGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGATATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAA
GCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGAAGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAG
ACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAGATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATA
GAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCATACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTC
AAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGAAATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAA
GAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGTGAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTG
GGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGAGTTTGAAGATGAAGAAGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCA
CCTATAAACTTTGTTTCATTTAACTATTTATTAACTTTATAAGTTAAATATACTTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCT

>17726_17726_4_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000229195_CEP290_chr12_88483264_ENST00000552810_length(amino acids)=1317AA_BP=27
MIASGTVRKGHDSMVRTDGHTLSEKRNYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYA
RLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQ
KVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAA
QKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAEL
GRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPT
PVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQ
CLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVE
DLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVK
KLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVD
QVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQ
KENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLK
KASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLE
ETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAE
TEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFE

--------------------------------------------------------------
>17726_17726_5_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000418359_CEP290_chr12_88483264_ENST00000309041_length(transcript)=4366nt_BP=499nt
AGCGTCCCCGGGGAGGGCGGACTGAAGCCACCTCACCATTCATCGCCCCTGGACCCCGCAGTCCCCCTCGGACTCAGGGCCAGAGCCTTC
TGCGAAGCAACCTAGCCCCAGGGAAACGGTAGCGGCCGCAGAAGCCCCGCTCTCTGTAACGGCCGCGGAGGAGCAGCAAGCCTCCCTGTG
AGTCGGTGGGAGACAAGACGGAGCGGCGTCGTCGCTCCCACCTTCCGCTGCCGCCTGGAGGGAAGCCGGAGCGACGGGGGTCACGGCGGC
GGTCAGAGGGTAAAGGTCTTGCTCCCAGCAGCCTCCGCGGTGGATACGTCGCCATCTTGGATCCGCGGGACAAGAAAATTCATGCGAGGG
AGACGTGGTGGGCGGTCCTTCCTGTGACACGACCCTTGAGTGACAGTTCTATTTGATTGCCTCCGGTACTGTGAGGAAAGGACACGACTC
TATGGTGAGGACTGATGGACATACATTATCTGAGAAAAGAAACTACCAGGCACAGTCTGATGAAAAGTCGCTCATTGCCAAGTTGCACCA
ACATAATGTCTCTCTTCAACTGAGTGAGGCTACTGCTCTTGGTAAGTTGGAGTCAATTACATCTAAACTGCAGAAGATGGAGGCCTACAA
CTTGCGCTTAGAGCAGAAACTTGATGAAAAAGAACAGGCTCTCTATTATGCTCGTTTGGAGGGAAGAAACAGAGCAAAACATCTGCGCCA
AACAATTCAGTCTCTACGACGACAGTTTAGTGGAGCTTTACCCTTGGCACAACAGGAAAAGTTCTCCAAAACAATGATTCAACTACAAAA
TGACAAACTTAAGATAATGCAAGAAATGAAAAATTCTCAACAAGAACATAGAAATATGGAGAACAAAACATTGGAGATGGAATTAAAATT
AAAGGGCCTGGAAGAGTTAATAAGCACTTTAAAGGATACCAAAGGAGCCCAAAAGGTAATCAACTGGCATATGAAAATAGAAGAACTTCG
TCTTCAAGAACTTAAACTAAATCGGGAATTAGTCAAGGATAAAGAAGAAATAAAATATTTGAATAACATAATTTCTGAATATGAACGTAC
AATCAGCAGTCTTGAAGAAGAAATTGTGCAACAGAACAAGTTTCATGAAGAAAGACAAATGGCCTGGGATCAAAGAGAAGTTGACCTGGA
ACGCCAACTAGACATTTTTGACCGTCAGCAAAATGAAATACTAAATGCGGCACAAAAGTTTGAAGAAGCTACAGGATCAATCCCTGACCC
TAGTTTGCCCCTTCCAAATCAACTTGAGATCGCTCTAAGGAAAATTAAGGAGAACATTCGAATAATTCTAGAAACACGGGCAACTTGCAA
ATCACTAGAAGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACT
GAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATT
GAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAA
AGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTC
ACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGA
GATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAG
AGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGC
GGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAA
TTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAG
TCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAA
TGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACT
TAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAA
AATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACC
CCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGT
AGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAAT
TCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAA
AGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGA
ATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGT
AGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTC
AATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACT
GAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAA
AGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGG
TTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAA
TATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAA
GACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGAT
AGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGG
TCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGA
TATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGA
AGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAG
ATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCAT
ACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGA
AATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGT
GAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGA

>17726_17726_5_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000418359_CEP290_chr12_88483264_ENST00000309041_length(amino acids)=1318AA_BP=27
MIASGTVRKGHDSMVRTDGHTLSEKRNYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYA
RLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQ
KVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAA
QKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAEL
GRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPT
PVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQ
CLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVE
DLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVK
KLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVD
QVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQ
KENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLK
KASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLE
ETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAE
TEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFE

--------------------------------------------------------------
>17726_17726_6_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000418359_CEP290_chr12_88483264_ENST00000397838_length(transcript)=4366nt_BP=499nt
AGCGTCCCCGGGGAGGGCGGACTGAAGCCACCTCACCATTCATCGCCCCTGGACCCCGCAGTCCCCCTCGGACTCAGGGCCAGAGCCTTC
TGCGAAGCAACCTAGCCCCAGGGAAACGGTAGCGGCCGCAGAAGCCCCGCTCTCTGTAACGGCCGCGGAGGAGCAGCAAGCCTCCCTGTG
AGTCGGTGGGAGACAAGACGGAGCGGCGTCGTCGCTCCCACCTTCCGCTGCCGCCTGGAGGGAAGCCGGAGCGACGGGGGTCACGGCGGC
GGTCAGAGGGTAAAGGTCTTGCTCCCAGCAGCCTCCGCGGTGGATACGTCGCCATCTTGGATCCGCGGGACAAGAAAATTCATGCGAGGG
AGACGTGGTGGGCGGTCCTTCCTGTGACACGACCCTTGAGTGACAGTTCTATTTGATTGCCTCCGGTACTGTGAGGAAAGGACACGACTC
TATGGTGAGGACTGATGGACATACATTATCTGAGAAAAGAAACTACCAGGCACAGTCTGATGAAAAGTCGCTCATTGCCAAGTTGCACCA
ACATAATGTCTCTCTTCAACTGAGTGAGGCTACTGCTCTTGGTAAGTTGGAGTCAATTACATCTAAACTGCAGAAGATGGAGGCCTACAA
CTTGCGCTTAGAGCAGAAACTTGATGAAAAAGAACAGGCTCTCTATTATGCTCGTTTGGAGGGAAGAAACAGAGCAAAACATCTGCGCCA
AACAATTCAGTCTCTACGACGACAGTTTAGTGGAGCTTTACCCTTGGCACAACAGGAAAAGTTCTCCAAAACAATGATTCAACTACAAAA
TGACAAACTTAAGATAATGCAAGAAATGAAAAATTCTCAACAAGAACATAGAAATATGGAGAACAAAACATTGGAGATGGAATTAAAATT
AAAGGGCCTGGAAGAGTTAATAAGCACTTTAAAGGATACCAAAGGAGCCCAAAAGGTAATCAACTGGCATATGAAAATAGAAGAACTTCG
TCTTCAAGAACTTAAACTAAATCGGGAATTAGTCAAGGATAAAGAAGAAATAAAATATTTGAATAACATAATTTCTGAATATGAACGTAC
AATCAGCAGTCTTGAAGAAGAAATTGTGCAACAGAACAAGTTTCATGAAGAAAGACAAATGGCCTGGGATCAAAGAGAAGTTGACCTGGA
ACGCCAACTAGACATTTTTGACCGTCAGCAAAATGAAATACTAAATGCGGCACAAAAGTTTGAAGAAGCTACAGGATCAATCCCTGACCC
TAGTTTGCCCCTTCCAAATCAACTTGAGATCGCTCTAAGGAAAATTAAGGAGAACATTCGAATAATTCTAGAAACACGGGCAACTTGCAA
ATCACTAGAAGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACT
GAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATT
GAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAA
AGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTC
ACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGA
GATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAG
AGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGC
GGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAA
TTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAG
TCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAA
TGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACT
TAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAA
AATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACC
CCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGT
AGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAAT
TCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAA
AGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGA
ATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGT
AGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTC
AATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACT
GAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAA
AGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGG
TTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAA
TATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAA
GACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGAT
AGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGG
TCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGA
TATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGA
AGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAG
ATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCAT
ACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGA
AATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGT
GAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGA

>17726_17726_6_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000418359_CEP290_chr12_88483264_ENST00000397838_length(amino acids)=1318AA_BP=27
MIASGTVRKGHDSMVRTDGHTLSEKRNYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYA
RLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQ
KVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAA
QKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAEL
GRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPT
PVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQ
CLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVE
DLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVK
KLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVD
QVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQ
KENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLK
KASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLE
ETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAE
TEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFE

--------------------------------------------------------------
>17726_17726_7_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000418359_CEP290_chr12_88483264_ENST00000547691_length(transcript)=4534nt_BP=499nt
AGCGTCCCCGGGGAGGGCGGACTGAAGCCACCTCACCATTCATCGCCCCTGGACCCCGCAGTCCCCCTCGGACTCAGGGCCAGAGCCTTC
TGCGAAGCAACCTAGCCCCAGGGAAACGGTAGCGGCCGCAGAAGCCCCGCTCTCTGTAACGGCCGCGGAGGAGCAGCAAGCCTCCCTGTG
AGTCGGTGGGAGACAAGACGGAGCGGCGTCGTCGCTCCCACCTTCCGCTGCCGCCTGGAGGGAAGCCGGAGCGACGGGGGTCACGGCGGC
GGTCAGAGGGTAAAGGTCTTGCTCCCAGCAGCCTCCGCGGTGGATACGTCGCCATCTTGGATCCGCGGGACAAGAAAATTCATGCGAGGG
AGACGTGGTGGGCGGTCCTTCCTGTGACACGACCCTTGAGTGACAGTTCTATTTGATTGCCTCCGGTACTGTGAGGAAAGGACACGACTC
TATGGTGAGGACTGATGGACATACATTATCTGAGAAAAGAAACTACCAGGCACAGTCTGATGAAAAGTCGCTCATTGCCAAGTTGCACCA
ACATAATGTCTCTCTTCAACTGAGTGAGGCTACTGCTCTTGGTAAGTTGGAGTCAATTACATCTAAACTGCAGAAGATGGAGGCCTACAA
CTTGCGCTTAGAGCAGAAACTTGATGAAAAAGAACAGGCTCTCTATTATGCTCGTTTGGAGGGAAGAAACAGAGCAAAACATCTGCGCCA
AACAATTCAGTCTCTACGACGACAGTTTAGTGGAGCTTTACCCTTGGCACAACAGGAAAAGTTCTCCAAAACAATGATTCAACTACAAAA
TGACAAACTTAAGATAATGCAAGAAATGAAAAATTCTCAACAAGAACATAGAAATATGGAGAACAAAACATTGGAGATGGAATTAAAATT
AAAGGGCCTGGAAGAGTTAATAAGCACTTTAAAGGATACCAAAGGAGCCCAAAAGGTAATCAACTGGCATATGAAAATAGAAGAACTTCG
TCTTCAAGAACTTAAACTAAATCGGGAATTAGTCAAGGATAAAGAAGAAATAAAATATTTGAATAACATAATTTCTGAATATGAACGTAC
AATCAGCAGTCTTGAAGAAGAAATTGTGCAACAGAACAAGTTTCATGAAGAAAGACAAATGGCCTGGGATCAAAGAGAAGTTGACCTGGA
ACGCCAACTAGACATTTTTGACCGTCAGCAAAATGAAATACTAAATGCGGCACAAAAGTTTGAAGAAGCTACAGGATCAATCCCTGACCC
TAGTTTGCCCCTTCCAAATCAACTTGAGATCGCTCTAAGGAAAATTAAGGAGAACATTCGAATAATTCTAGAAACACGGGCAACTTGCAA
ATCACTAGAAGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACT
GAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATT
GAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAA
AGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTC
ACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGA
GATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAG
AGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGC
GGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAA
TTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAG
TCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAA
TGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACT
TAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAA
AATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACC
CCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGT
AGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAAT
TCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAA
AGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGA
ATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGT
AGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTC
AATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACT
GAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAA
AGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGG
TTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAA
TATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAA
GACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGAT
AGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGG
TCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGA
TATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGA
AGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAG
ATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCAT
ACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGA
AATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGT
GAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGA
GTTTGAAGATGAAGAAGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCACCTATAAACTTTGTTTCATTTAACTATTTATTAACTTT
ATAAGTTAAATATACTTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCTTCTCACTACCTTGTACCTTTATACTTAGATTGGAATTC

>17726_17726_7_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000418359_CEP290_chr12_88483264_ENST00000547691_length(amino acids)=1317AA_BP=27
MIASGTVRKGHDSMVRTDGHTLSEKRNYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYA
RLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQ
KVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAA
QKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAEL
GRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPT
PVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQ
CLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVE
DLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVK
KLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVD
QVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQ
KENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLK
KASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLE
ETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAE
TEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFE

--------------------------------------------------------------
>17726_17726_8_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000418359_CEP290_chr12_88483264_ENST00000552810_length(transcript)=4530nt_BP=499nt
AGCGTCCCCGGGGAGGGCGGACTGAAGCCACCTCACCATTCATCGCCCCTGGACCCCGCAGTCCCCCTCGGACTCAGGGCCAGAGCCTTC
TGCGAAGCAACCTAGCCCCAGGGAAACGGTAGCGGCCGCAGAAGCCCCGCTCTCTGTAACGGCCGCGGAGGAGCAGCAAGCCTCCCTGTG
AGTCGGTGGGAGACAAGACGGAGCGGCGTCGTCGCTCCCACCTTCCGCTGCCGCCTGGAGGGAAGCCGGAGCGACGGGGGTCACGGCGGC
GGTCAGAGGGTAAAGGTCTTGCTCCCAGCAGCCTCCGCGGTGGATACGTCGCCATCTTGGATCCGCGGGACAAGAAAATTCATGCGAGGG
AGACGTGGTGGGCGGTCCTTCCTGTGACACGACCCTTGAGTGACAGTTCTATTTGATTGCCTCCGGTACTGTGAGGAAAGGACACGACTC
TATGGTGAGGACTGATGGACATACATTATCTGAGAAAAGAAACTACCAGGCACAGTCTGATGAAAAGTCGCTCATTGCCAAGTTGCACCA
ACATAATGTCTCTCTTCAACTGAGTGAGGCTACTGCTCTTGGTAAGTTGGAGTCAATTACATCTAAACTGCAGAAGATGGAGGCCTACAA
CTTGCGCTTAGAGCAGAAACTTGATGAAAAAGAACAGGCTCTCTATTATGCTCGTTTGGAGGGAAGAAACAGAGCAAAACATCTGCGCCA
AACAATTCAGTCTCTACGACGACAGTTTAGTGGAGCTTTACCCTTGGCACAACAGGAAAAGTTCTCCAAAACAATGATTCAACTACAAAA
TGACAAACTTAAGATAATGCAAGAAATGAAAAATTCTCAACAAGAACATAGAAATATGGAGAACAAAACATTGGAGATGGAATTAAAATT
AAAGGGCCTGGAAGAGTTAATAAGCACTTTAAAGGATACCAAAGGAGCCCAAAAGGTAATCAACTGGCATATGAAAATAGAAGAACTTCG
TCTTCAAGAACTTAAACTAAATCGGGAATTAGTCAAGGATAAAGAAGAAATAAAATATTTGAATAACATAATTTCTGAATATGAACGTAC
AATCAGCAGTCTTGAAGAAGAAATTGTGCAACAGAACAAGTTTCATGAAGAAAGACAAATGGCCTGGGATCAAAGAGAAGTTGACCTGGA
ACGCCAACTAGACATTTTTGACCGTCAGCAAAATGAAATACTAAATGCGGCACAAAAGTTTGAAGAAGCTACAGGATCAATCCCTGACCC
TAGTTTGCCCCTTCCAAATCAACTTGAGATCGCTCTAAGGAAAATTAAGGAGAACATTCGAATAATTCTAGAAACACGGGCAACTTGCAA
ATCACTAGAAGAGAAACTAAAAGAGAAAGAATCTGCTTTAAGGTTAGCAGAACAAAATATACTGTCAAGAGACAAAGTAATCAATGAACT
GAGGCTTCGATTGCCTGCCACTGCAGAAAGAGAAAAGCTCATAGCTGAGCTAGGCAGAAAAGAGATGGAACCAAAATCTCACCACACATT
GAAAATTGCTCATCAAACCATTGCAAACATGCAAGCAAGGTTAAATCAAAAAGAAGAAGTATTAAAGAAGTATCAACGTCTTCTAGAAAA
AGCCAGAGAGGAGCAAAGAGAAATTGTGAAGAAACATGAGGAAGACCTTCATATTCTTCATCACAGATTAGAACTACAGGCTGATAGTTC
ACTAAATAAATTCAAACAAACGGCTTGGGATTTAATGAAACAGTCTCCCACTCCAGTTCCTACCAACAAGCATTTTATTCGTCTGGCTGA
GATGGAACAGACAGTAGCAGAACAAGATGACTCTCTTTCCTCACTCTTGGTCAAACTAAAGAAAGTATCACAAGATTTGGAGAGACAAAG
AGAAATCACTGAATTAAAAGTAAAAGAATTTGAAAATATCAAATTACAGCTTCAAGAAAACCATGAAGATGAAGTGAAAAAAGTAAAAGC
GGAAGTAGAGGATTTAAAGTATCTTCTGGACCAGTCACAAAAGGAGTCACAGTGTTTAAAATCTGAACTTCAGGCTCAAAAAGAAGCAAA
TTCAAGAGCTCCAACAACTACAATGAGAAATCTAGTAGAACGGCTAAAGAGCCAATTAGCCTTGAAGGAGAAACAACAGAAAGCACTTAG
TCGGGCACTTTTAGAACTCCGGGCAGAAATGACAGCAGCTGCTGAAGAACGTATTATTTCTGCAACTTCTCAAAAAGAGGCCCATCTCAA
TGTTCAACAAATCGTTGATCGACATACTAGAGAGCTAAAGACACAAGTTGAAGATTTAAATGAAAATCTTTTAAAATTGAAAGAAGCACT
TAAAACAAGTAAAAACAGAGAAAACTCACTAACTGATAATTTGAATGACTTAAATAATGAACTGCAAAAGAAACAAAAAGCCTATAATAA
AATACTTAGAGAGAAAGAGGAAATTGATCAAGAGAATGATGAACTGAAAAGGCAAATTAAAAGACTAACCAGTGGATTACAGGGCAAACC
CCTGACAGATAATAAACAAAGTCTAATTGAAGAACTCCAAAGGAAAGTTAAAAAACTAGAGAACCAATTAGAGGGAAAGGTGGAGGAAGT
AGACCTAAAACCTATGAAAGAAAAGAATGCTAAAGAAGAATTAATTAGGTGGGAAGAAGGTAAAAAGTGGCAAGCCAAAATAGAAGGAAT
TCGAAACAAGTTAAAAGAGAAAGAGGGGGAAGTCTTTACTTTAACAAAGCAGTTGAATACTTTGAAGGATCTTTTTGCCAAAGCCGATAA
AGAGAAACTTACTTTGCAGAGGAAACTAAAAACAACTGGCATGACTGTTGATCAGGTTTTGGGAATACGAGCTTTGGAGTCAGAAAAAGA
ATTGGAAGAATTAAAAAAGAGAAATCTTGACTTAGAAAATGATATATTGTATATGAGGGCCCACCAAGCTCTTCCTCGAGATTCTGTTGT
AGAAGATTTACATTTACAAAATAGATACCTCCAAGAAAAACTTCATGCTTTAGAAAAACAGTTTTCAAAGGATACATATTCTAAGCCTTC
AATTTCAGGAATAGAGTCAGATGATCATTGTCAGAGAGAACAGGAGCTTCAGAAGGAAAACTTGAAGTTGTCATCTGAAAATATTGAACT
GAAATTTCAGCTTGAACAAGCAAATAAAGATTTGCCAAGATTAAAGAATCAAGTCAGAGATTTGAAGGAAATGTGTGAATTTCTTAAGAA
AGAAAAAGCAGAAGTTCAGCGGAAACTTGGCCATGTTAGAGGGTCTGGTAGAAGTGGAAAGACAATCCCAGAACTGGAAAAAACCATTGG
TTTAATGAAAAAAGTAGTTGAAAAAGTCCAGAGAGAAAATGAACAGTTGAAAAAAGCATCAGGAATATTGACTAGTGAAAAAATGGCTAA
TATTGAGCAGGAAAATGAAAAATTGAAGGCTGAATTAGAAAAACTTAAAGCTCATCTTGGGCATCAGTTGAGCATGCACTATGAATCCAA
GACCAAAGGCACAGAAAAAATTATTGCTGAAAATGAAAGGCTTCGTAAAGAACTTAAAAAAGAAACTGATGCTGCAGAGAAATTACGGAT
AGCAAAGAATAATTTAGAGATATTAAATGAGAAGATGACAGTTCAACTAGAAGAGACTGGTAAGAGATTGCAGTTTGCAGAAAGCAGAGG
TCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCATTGTGGTTACAAGAATGTATGAAACCAAGTTAAAAGAATTGGAAACTGA
TATTGCCAAAAAAAATCAAAGCATTACTGACCTTAAACAGCTTGTAAAAGAAGCAACAGAGAGAGAACAAAAAGTTAACAAATACAATGA
AGACCTTGAACAACAGATTAAGATTCTTAAACATGTTCCTGAAGGTGCTGAGACAGAGCAAGGCCTTAAACGGGAGCTTCAAGTTCTTAG
ATTAGCTAATCATCAGCTGGATAAAGAGAAAGCAGAATTAATCCATCAGATAGAAGCTAACAAGGACCAAAGTGGAGCTGAAAGCACCAT
ACCTGATGCTGATCAACTAAAGGAAAAAATAAAAGATCTAGAGACACAGCTCAAAATGTCAGATCTAGAAAAGCAGCATTTGAAGGAGGA
AATAAAGAAGCTGAAAAAAGAACTGGAAAATTTTGATCCTTCATTTTTTGAAGAAATTGAAGATCTTAAGTATAATTACAAGGAAGAAGT
GAAGAAGAATATTCTCTTAGAAGAGAAGGTAAAAAAACTTTCAGAACAATTGGGAGTTGAATTAACTAGCCCTGTTGCTGCTTCTGAAGA
GTTTGAAGATGAAGAAGAAAGTCCTGTTAATTTCCCCATTTACTAAAGGTCACCTATAAACTTTGTTTCATTTAACTATTTATTAACTTT
ATAAGTTAAATATACTTGGAAATAAGCAGTTCTCCGAACTGTAGTATTTCCTTCTCACTACCTTGTACCTTTATACTTAGATTGGAATTC

>17726_17726_8_CNOT2-CEP290_CNOT2_chr12_70672054_ENST00000418359_CEP290_chr12_88483264_ENST00000552810_length(amino acids)=1317AA_BP=27
MIASGTVRKGHDSMVRTDGHTLSEKRNYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYA
RLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQ
KVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAA
QKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAEL
GRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPT
PVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQ
CLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVE
DLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVK
KLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVD
QVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQ
KENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLK
KASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLE
ETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAE
TEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFE

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

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Fusion Gene PPI Analysis for CNOT2-CEP290


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneCEP290chr12:70672054chr12:88483264ENST000003978382146696_896251.01540.0IQCB1
TgeneCEP290chr12:70672054chr12:88483264ENST00000547691429696_896251.01540.0IQCB1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneCEP290chr12:70672054chr12:88483264ENST000005528102954696_8961191.02480.0IQCB1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for CNOT2-CEP290


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CNOT2-CEP290


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource