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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:AP2A2-EPS8L2 (FusionGDB2 ID:HG161TG64787)

Fusion Gene Summary for AP2A2-EPS8L2

check button Fusion gene summary
Fusion gene informationFusion gene name: AP2A2-EPS8L2
Fusion gene ID: hg161tg64787
HgeneTgene
Gene symbol

AP2A2

EPS8L2

Gene ID

161

64787

Gene nameadaptor related protein complex 2 subunit alpha 2EPS8 like 2
SynonymsADTAB|CLAPA2|HIP-9|HIP9|HYPJDFNB106|EPS8R2
Cytomap('AP2A2')('EPS8L2')

11p15.5

11p15.5

Type of geneprotein-codingprotein-coding
DescriptionAP-2 complex subunit alpha-2100 kDa coated vesicle protein Cadapter-related protein complex 2 subunit alpha-2adaptin, alpha Badaptor related protein complex 2 alpha 2 subunitalpha-adaptin C; Huntingtin interacting protein Jalpha2-adaptinclathrin asepidermal growth factor receptor kinase substrate 8-like protein 2EPS8-related protein 2epidermal growth factor receptor pathway substrate 8-related protein 2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000332231, ENST00000448903, 
ENST00000525891, ENST00000534328, 
Fusion gene scores* DoF score13 X 10 X 12=15609 X 7 X 8=504
# samples 2215
** MAII scorelog2(22/1560*10)=-2.82597060022495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/504*10)=-1.74846123300404
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AP2A2 [Title/Abstract] AND EPS8L2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAP2A2(994245)-EPS8L2(720062), # samples:3
Anticipated loss of major functional domain due to fusion event.AP2A2-EPS8L2 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.
AP2A2-EPS8L2 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.
AP2A2-EPS8L2 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.
AP2A2-EPS8L2 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.
* 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
HgeneAP2A2

GO:0072583

clathrin-dependent endocytosis

23676497

TgeneEPS8L2

GO:0007266

Rho protein signal transduction

14565974

TgeneEPS8L2

GO:0035023

regulation of Rho protein signal transduction

14565974


check buttonFusion gene breakpoints across AP2A2 (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 EPS8L2 (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
* 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
ChimerDB4LUSCTCGA-21-1071-01AAP2A2chr11

994245

-EPS8L2chr11

720062

+
ChimerDB4LUSCTCGA-21-1071-01AAP2A2chr11

994245

+EPS8L2chr11

720062

+
ChimerDB4LUSCTCGA-21-1071AP2A2chr11

994245

+EPS8L2chr11

720062

+


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Fusion Gene ORF analysis for AP2A2-EPS8L2

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
5CDS-intronENST00000332231ENST00000534449AP2A2chr11

994245

+EPS8L2chr11

720062

+
5CDS-intronENST00000448903ENST00000534449AP2A2chr11

994245

+EPS8L2chr11

720062

+
In-frameENST00000332231ENST00000318562AP2A2chr11

994245

+EPS8L2chr11

720062

+
In-frameENST00000332231ENST00000526198AP2A2chr11

994245

+EPS8L2chr11

720062

+
In-frameENST00000332231ENST00000530636AP2A2chr11

994245

+EPS8L2chr11

720062

+
In-frameENST00000332231ENST00000533256AP2A2chr11

994245

+EPS8L2chr11

720062

+
In-frameENST00000448903ENST00000318562AP2A2chr11

994245

+EPS8L2chr11

720062

+
In-frameENST00000448903ENST00000526198AP2A2chr11

994245

+EPS8L2chr11

720062

+
In-frameENST00000448903ENST00000530636AP2A2chr11

994245

+EPS8L2chr11

720062

+
In-frameENST00000448903ENST00000533256AP2A2chr11

994245

+EPS8L2chr11

720062

+
intron-3CDSENST00000525891ENST00000318562AP2A2chr11

994245

+EPS8L2chr11

720062

+
intron-3CDSENST00000525891ENST00000526198AP2A2chr11

994245

+EPS8L2chr11

720062

+
intron-3CDSENST00000525891ENST00000530636AP2A2chr11

994245

+EPS8L2chr11

720062

+
intron-3CDSENST00000525891ENST00000533256AP2A2chr11

994245

+EPS8L2chr11

720062

+
intron-3CDSENST00000534328ENST00000318562AP2A2chr11

994245

+EPS8L2chr11

720062

+
intron-3CDSENST00000534328ENST00000526198AP2A2chr11

994245

+EPS8L2chr11

720062

+
intron-3CDSENST00000534328ENST00000530636AP2A2chr11

994245

+EPS8L2chr11

720062

+
intron-3CDSENST00000534328ENST00000533256AP2A2chr11

994245

+EPS8L2chr11

720062

+
intron-intronENST00000525891ENST00000534449AP2A2chr11

994245

+EPS8L2chr11

720062

+
intron-intronENST00000534328ENST00000534449AP2A2chr11

994245

+EPS8L2chr11

720062

+

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)
ENST00000332231AP2A2chr11994245+ENST00000318562EPS8L2chr11720062+4829210014140821313
ENST00000332231AP2A2chr11994245+ENST00000533256EPS8L2chr11720062+4826210014140821313
ENST00000332231AP2A2chr11994245+ENST00000530636EPS8L2chr11720062+4153210014140821313
ENST00000332231AP2A2chr11994245+ENST00000526198EPS8L2chr11720062+4184210014141301329
ENST00000448903AP2A2chr11994245+ENST00000318562EPS8L2chr11720062+4826209714140791312
ENST00000448903AP2A2chr11994245+ENST00000533256EPS8L2chr11720062+4823209714140791312
ENST00000448903AP2A2chr11994245+ENST00000530636EPS8L2chr11720062+4150209714140791312
ENST00000448903AP2A2chr11994245+ENST00000526198EPS8L2chr11720062+4181209714141271328

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
ENST00000332231ENST00000318562AP2A2chr11994245+EPS8L2chr11720062+0.0036508090.9963492
ENST00000332231ENST00000533256AP2A2chr11994245+EPS8L2chr11720062+0.0036428940.996357
ENST00000332231ENST00000530636AP2A2chr11994245+EPS8L2chr11720062+0.005723860.9942761
ENST00000332231ENST00000526198AP2A2chr11994245+EPS8L2chr11720062+0.0055125540.99448746
ENST00000448903ENST00000318562AP2A2chr11994245+EPS8L2chr11720062+0.0036241680.99637586
ENST00000448903ENST00000533256AP2A2chr11994245+EPS8L2chr11720062+0.0036162970.99638367
ENST00000448903ENST00000530636AP2A2chr11994245+EPS8L2chr11720062+0.0056764640.9943236
ENST00000448903ENST00000526198AP2A2chr11994245+EPS8L2chr11720062+0.0054675820.99453235

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Fusion Genomic Features for AP2A2-EPS8L2


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)
AP2A2chr11994245+EPS8L2chr11720061+5.32E-111
AP2A2chr11994245+EPS8L2chr11720061+5.32E-111
AP2A2chr11994245+EPS8L2chr11720061+5.32E-111
AP2A2chr11994245+EPS8L2chr11720061+5.32E-111

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.
genomic feature of top 1%

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Fusion Protein Features for AP2A2-EPS8L2


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/chr11:994245/chr11:720062)
- 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
..
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}.

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
HgeneAP2A2chr11:994245chr11:720062ENST00000332231+142211_12653941.0RegionPhosphatidylinositol 3%2C4%2C5-trisphosphate binding
HgeneAP2A2chr11:994245chr11:720062ENST00000332231+142257_61653941.0RegionPhosphatidylinositol 3%2C4%2C5-trisphosphate binding
HgeneAP2A2chr11:994245chr11:720062ENST00000332231+14225_80653941.0RegionNote=Lipid-binding
HgeneAP2A2chr11:994245chr11:720062ENST00000448903+142211_12652940.0RegionPhosphatidylinositol 3%2C4%2C5-trisphosphate binding
HgeneAP2A2chr11:994245chr11:720062ENST00000448903+142257_61652940.0RegionPhosphatidylinositol 3%2C4%2C5-trisphosphate binding
HgeneAP2A2chr11:994245chr11:720062ENST00000448903+14225_80652940.0RegionNote=Lipid-binding
TgeneEPS8L2chr11:994245chr11:720062ENST00000318562321492_55155716.0DomainSH3
TgeneEPS8L2chr11:994245chr11:720062ENST00000530636321492_55155716.0DomainSH3
TgeneEPS8L2chr11:994245chr11:720062ENST00000533256422492_55155716.0DomainSH3

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneEPS8L2chr11:994245chr11:720062ENST0000031856232146_20255716.0DomainPID
TgeneEPS8L2chr11:994245chr11:720062ENST0000053063632146_20255716.0DomainPID
TgeneEPS8L2chr11:994245chr11:720062ENST0000053325642246_20255716.0DomainPID


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Fusion Gene Sequence for AP2A2-EPS8L2


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.
>5226_5226_1_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000332231_EPS8L2_chr11_720062_ENST00000318562_length(transcript)=4829nt_BP=2100nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGGTGACAAGGCTCTTGATGGCTATAGTAAAAAAAAGTACGTCTGCAAGTTGCTCTTCATCTTTCTCCTTGGTCATGACATTGAC
TTTGGACACATGGAGGCTGTGAACCTGCTGAGTTCAAACAGATACACGGAAAAGCAGATCGGCTACCTTTTCATCTCTGTGTTGGTGAAC
TCAAACAGTGAGCTGATCCGCCTGATCAACAACGCCATCAAGAATGACCTGGCCAGCCGCAACCCCACCTTCATGGGCCTGGCCCTGCAC
TGCATCGCCAGCGTGGGCAGCCGGGAGATGGCCGAGGCCTTCGCCGGGGAGATCCCTAAGGTCCTCGTAGCCGGAGACACTATGGACAGC
GTGAAGCAGAGCGCGGCCCTGTGCTTGCTGCGCCTGTACAGGACGTCCCCCGATCTTGTCCCCATGGGCGACTGGACATCCCGAGTGGTG
CACCTGCTCAATGACCAGCACTTGGGTGTGGTAACTGCAGCCACAAGTCTGATCACCACTTTAGCACAGAAGAACCCAGAAGAGTTTAAA
ACCTCCGTGTCTCTGGCTGTCTCTAGGCTAAGCAGAATCGTGACGTCTGCATCCACAGATCTCCAGGATTACACTTACTATTTTGTCCCG
GCTCCCTGGCTGTCTGTCAAACTGCTGAGACTGCTGCAGTGCTACCCACCCCCAGAAGACCCTGCAGTGCGAGGCCGCCTGACTGAGTGC
CTGGAGACCATCCTGAACAAAGCCCAAGAACCGCCCAAGTCGAAGAAGGTCCAGCACTCCAACGCGAAGAATGCCGTGCTCTTCGAGGCC
ATCAGCTTAATCATTCACCATGACAGTGAGCCGAACCTGCTCGTCCGTGCCTGCAACCAGTTGGGCCAGTTTCTGCAGCACCGCGAGACC
AACCTGCGCTACCTGGCCCTGGAGAGCATGTGCACGCTGGCCAGCTCTGAGTTCTCCCATGAGGCTGTCAAGACGCACATCGAGACGGTC
ATCAACGCCCTGAAGACTGAGCGGGACGTGAGCGTGCGGCAGCGGGCCGTGGACCTCCTCTACGCCATGTGCGACCGCAGCAACGCCCCA
CAGATCGTGGCCGAGATGCTGAGCTATCTGGAGACAGCTGACTACTCCATCCGAGAAGAGATTGTGCTGAAGGTCGCCATCCTGGCTGAG
AAGTACGCGGTGGACTACACCTGGTATGTGGATACCATCTTGAACTTGATCCGAATTGCTGGTGATTACGTGAGTGAAGAGGTGTGGTAC
CGAGTCATTCAGATCGTCATCAACCGGGACGACGTGCAGGGCTACGCGGCCAAGACTGTGTTCGAGGCTCTTCAGGCTCCCGCGTGCCAC
GAGAACCTGGTCAAAGTGGGCGGCTACATCCTGGGGGAGTTTGGAAACTTGATAGCTGGAGACCCGAGATCCAGCCCGCTGATCCAGTTC
CACCTGCTGCACTCCAAGTTCCACCTGTGCAGCGTCCCCACCCGCGCGCTGCTCCTGTCCACCTACATCAAGTTCGTGAACCTCTTCCCG
GAGGTGAAGCCCACCATCCAGGACGTGCTGCGCAGCGACAGCCAGCTCAGGAACGCAGACGTGGAGCTGCAGCAGCGTGCTGTGGAGTAC
CTGCGGCTCAGCACCGTGGCCAGCACCGACATTCTGGCGACCGTGCTGGAGGAGATGCCCCCATTCCCGGAGCGGGAGTCCTCCATCTTG
GCAAAGCTCAAGAAGAAGAAGGGCCCCAGCACGGTGACAGACCTGGAGGACACCAAGCGGGACAGGAGTGTGGACGTGAACGGGGGTCCT
GAGCCTGCCCCAGCCAGTACCAGCGCCGTGCACCTGGCCACATTCATCATGGACAAGAGCGAAGCCATCACGTCTGTGGACGACGCCATC
CGGAAGCTGGTGCAGCTGAGCTCCAAGGAGAAGATCTGGACCCAGGAGATGCTGCTGCAGGTGAACGACCAGTCGCTGCGGCTGCTGGAC
ATCGAGTCACAGGAGGAGCTGGAAGACTTCCCGCTGCCCACGGTGCAGCGCAGCCAGACGGTCCTCAACCAGCTGCGCTACCCGTCTGTG
CTGCTGCTCGTGTGCCAGGACTCGGAGCAGAGCAAGCCGGATGTCCACTTCTTCCACTGCGATGAGGTGGAGGCAGAGCTGGTGCACGAG
GACATCGAGAGCGCGTTGGCCGACTGCCGGCTGGGCAAGAAGATGCGGCCGCAGACCCTGAAGGGACACCAGGAGAAGATTCGGCAGCGG
CAGTCCATCCTGCCTCCTCCCCAGGGCCCGGCGCCCATCCCCTTCCAGCACCGCGGCGGGGATTCCCCGGAGGCCAAGAATCGCGTGGGC
CCGCAGGTGCCACTCAGCGAGCCAGGTTTCCGCCGTCGGGAGTCGCAGGAGGAGCCGCGGGCCGTGCTGGCTCAGAAGATAGAGAAGGAG
ACGCAAATCCTCAACTGCGCCCTGGACGACATCGAGTGGTTTGTGGCCCGGCTGCAGAAGGCAGCCGAGGCTTTCAAGCAGCTGAACCAG
CGGAAAAAGGGGAAGAAGAAGGGCAAGAAGGCGCCAGCAGAGGGCGTCCTCACACTGCGGGCACGGCCCCCCTCTGAGGGCGAGTTCATC
GACTGCTTCCAGAAAATCAAGCTGGCGATTAACTTGCTGGCAAAGCTGCAGAAGCACATCCAGAACCCCAGCGCCGCGGAGCTCGTGCAC
TTCCTCTTCGGGCCTCTGGACCTGATCGTCAACACCTGCAGTGGCCCAGACATCGCACGCTCCGTCTCCTGCCCACTGCTCTCCCGAGAT
GCCGTGGACTTCCTGCGCGGCCACCTGGTCCCTAAGGAGATGTCGCTGTGGGAGTCACTGGGAGAGAGCTGGATGCGGCCCCGTTCCGAG
TGGCCGCGGGAGCCACAGGTGCCCCTCTACGTGCCCAAGTTCCACAGCGGCTGGGAGCCTCCTGTGGATGTGCTGCAGGAGGCCCCCTGG
GAGGTGGAGGGGCTGGCGTCTGCCCCCATCGAGGAGGTGAGTCCAGTGAGCCGACAGTCCATAAGAAACTCCCAGAAGCACAGCCCCACT
TCAGAGCCCACCCCCCCGGGGGATGCCCTACCACCAGTCAGCTCCCCACATACTCACAGGGGCTACCAGCCAACACCAGCCATGGCCAAG
TACGTCAAGATCCTGTATGACTTCACAGCCCGAAATGCCAACGAGCTATCGGTGCTCAAGGATGAGGTCCTAGAGGTGCTGGAGGACGGC
CGGCAGTGGTGGAAGCTGCGCAGCCGCAGCGGCCAGGCGGGGTACGTGCCCTGCAACATCCTAGGCGAGGCGCGACCGGAGGACGCCGGC
GCCCCGTTCGAGCAGGCCGGTCAGAAGTACTGGGGCCCCGCCAGCCCGACCCACAAGCTACCCCCAAGCTTCCCGGGGAACAAAGACGAG
CTCATGCAGCACATGGACGAGGTCAACGACGAGCTCATCCGGAAAATCAGCAACATCAGGGCGCAGCCACAGAGGCACTTCCGCGTGGAG
CGCAGCCAGCCCGTGAGCCAGCCGCTCACCTACGAGTCGGGTCCGGACGAGGTCCGCGCCTGGCTGGAAGCCAAGGCCTTCAGCCCGCGG
ATCGTGGAGAACCTGGGCATCCTGACCGGGCCGCAGCTCTTCTCCCTCAACAAGGAGGAGCTGAAGAAAGTGTGCGGCGAGGAGGGCGTC
CGCGTGTACAGCCAGCTCACCATGCAGAAGGCCTTCCTGGAGAAGCAGCAAAGTGGGTCGGAGCTGGAAGAACTCATGAACAAGTTTCAT
TCCATGAATCAGAGGAGGGGGGAGGACAGCTAGGCCCAGCTGCCTTGGGCTGGGGCCTGCGGAGGGGAAGCCCACCCACAATGCATGGAG
TATTATTTTTATATGTGTATGTATTTTGTATCAAGGACACGGAGGGGGTGTGGTGCTGGCTAGAGGTCCCTGCCCCTGTCTGGAGGCACA
ACGCCCATCCTTAGGCCAAACAGTACCCAAGGCCTCAGCCCACACCAAGACTAATCTCAGCCAAACCTGCTGCTTGGTGGTGCCAGCCCC
TTGTCCACCTTCTCTTGAGGCCACAGAACTCCCTGGGGCTGGGGCCTCTTTCTCTGGCCTCCCCTGTGCACCTGGGGGGTCCTGGCCCCT
GTGATGCTCCCCCATCCCCACCCACTTCTACATCCATCCACACCCCAGGGTGAGCTGGAGCTCCAGGCTGGCCAGGCTGAACCTCGCACA
CACGCAGAGTTCTGCTCCCTGAGGGGGGCCCGGGAGGGGCTCCAGCAGGAGGCCGTGGGTGCCATTCGGGGGAAAGTGGGGGAACGACAC
ACACTTCACCTGCAAGGGCCGACAACGCAGGGGACACCGTGCCGGCTTCAGACACTCCCAGCGCCCACTCTTACAGGCCCAGGACTGGAG
CTTTCTCTGGCCAAGTTTCAGGCCAATGATCCCCGCATGGTGTTGGGGGTGCTGGTGTGTCTTGGTGCCTGGACTTGAGTCTCACCCTAC

>5226_5226_1_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000332231_EPS8L2_chr11_720062_ENST00000318562_length(amino acids)=1313AA_BP=646
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFGHMEAVNLLSSNRYTE
KQIGYLFISVLVNSNSELIRLINNAIKNDLASRNPTFMGLALHCIASVGSREMAEAFAGEIPKVLVAGDTMDSVKQSAALCLLRLYRTSP
DLVPMGDWTSRVVHLLNDQHLGVVTAATSLITTLAQKNPEEFKTSVSLAVSRLSRIVTSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPP
PEDPAVRGRLTECLETILNKAQEPPKSKKVQHSNAKNAVLFEAISLIIHHDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSE
FSHEAVKTHIETVINALKTERDVSVRQRAVDLLYAMCDRSNAPQIVAEMLSYLETADYSIREEIVLKVAILAEKYAVDYTWYVDTILNLI
RIAGDYVSEEVWYRVIQIVINRDDVQGYAAKTVFEALQAPACHENLVKVGGYILGEFGNLIAGDPRSSPLIQFHLLHSKFHLCSVPTRAL
LLSTYIKFVNLFPEVKPTIQDVLRSDSQLRNADVELQQRAVEYLRLSTVASTDILATVLEEMPPFPERESSILAKLKKKKGPSTVTDLED
TKRDRSVDVNGGPEPAPASTSAVHLATFIMDKSEAITSVDDAIRKLVQLSSKEKIWTQEMLLQVNDQSLRLLDIESQEELEDFPLPTVQR
SQTVLNQLRYPSVLLLVCQDSEQSKPDVHFFHCDEVEAELVHEDIESALADCRLGKKMRPQTLKGHQEKIRQRQSILPPPQGPAPIPFQH
RGGDSPEAKNRVGPQVPLSEPGFRRRESQEEPRAVLAQKIEKETQILNCALDDIEWFVARLQKAAEAFKQLNQRKKGKKKGKKAPAEGVL
TLRARPPSEGEFIDCFQKIKLAINLLAKLQKHIQNPSAAELVHFLFGPLDLIVNTCSGPDIARSVSCPLLSRDAVDFLRGHLVPKEMSLW
ESLGESWMRPRSEWPREPQVPLYVPKFHSGWEPPVDVLQEAPWEVEGLASAPIEEVSPVSRQSIRNSQKHSPTSEPTPPGDALPPVSSPH
THRGYQPTPAMAKYVKILYDFTARNANELSVLKDEVLEVLEDGRQWWKLRSRSGQAGYVPCNILGEARPEDAGAPFEQAGQKYWGPASPT
HKLPPSFPGNKDELMQHMDEVNDELIRKISNIRAQPQRHFRVERSQPVSQPLTYESGPDEVRAWLEAKAFSPRIVENLGILTGPQLFSLN

--------------------------------------------------------------
>5226_5226_2_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000332231_EPS8L2_chr11_720062_ENST00000526198_length(transcript)=4184nt_BP=2100nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGGTGACAAGGCTCTTGATGGCTATAGTAAAAAAAAGTACGTCTGCAAGTTGCTCTTCATCTTTCTCCTTGGTCATGACATTGAC
TTTGGACACATGGAGGCTGTGAACCTGCTGAGTTCAAACAGATACACGGAAAAGCAGATCGGCTACCTTTTCATCTCTGTGTTGGTGAAC
TCAAACAGTGAGCTGATCCGCCTGATCAACAACGCCATCAAGAATGACCTGGCCAGCCGCAACCCCACCTTCATGGGCCTGGCCCTGCAC
TGCATCGCCAGCGTGGGCAGCCGGGAGATGGCCGAGGCCTTCGCCGGGGAGATCCCTAAGGTCCTCGTAGCCGGAGACACTATGGACAGC
GTGAAGCAGAGCGCGGCCCTGTGCTTGCTGCGCCTGTACAGGACGTCCCCCGATCTTGTCCCCATGGGCGACTGGACATCCCGAGTGGTG
CACCTGCTCAATGACCAGCACTTGGGTGTGGTAACTGCAGCCACAAGTCTGATCACCACTTTAGCACAGAAGAACCCAGAAGAGTTTAAA
ACCTCCGTGTCTCTGGCTGTCTCTAGGCTAAGCAGAATCGTGACGTCTGCATCCACAGATCTCCAGGATTACACTTACTATTTTGTCCCG
GCTCCCTGGCTGTCTGTCAAACTGCTGAGACTGCTGCAGTGCTACCCACCCCCAGAAGACCCTGCAGTGCGAGGCCGCCTGACTGAGTGC
CTGGAGACCATCCTGAACAAAGCCCAAGAACCGCCCAAGTCGAAGAAGGTCCAGCACTCCAACGCGAAGAATGCCGTGCTCTTCGAGGCC
ATCAGCTTAATCATTCACCATGACAGTGAGCCGAACCTGCTCGTCCGTGCCTGCAACCAGTTGGGCCAGTTTCTGCAGCACCGCGAGACC
AACCTGCGCTACCTGGCCCTGGAGAGCATGTGCACGCTGGCCAGCTCTGAGTTCTCCCATGAGGCTGTCAAGACGCACATCGAGACGGTC
ATCAACGCCCTGAAGACTGAGCGGGACGTGAGCGTGCGGCAGCGGGCCGTGGACCTCCTCTACGCCATGTGCGACCGCAGCAACGCCCCA
CAGATCGTGGCCGAGATGCTGAGCTATCTGGAGACAGCTGACTACTCCATCCGAGAAGAGATTGTGCTGAAGGTCGCCATCCTGGCTGAG
AAGTACGCGGTGGACTACACCTGGTATGTGGATACCATCTTGAACTTGATCCGAATTGCTGGTGATTACGTGAGTGAAGAGGTGTGGTAC
CGAGTCATTCAGATCGTCATCAACCGGGACGACGTGCAGGGCTACGCGGCCAAGACTGTGTTCGAGGCTCTTCAGGCTCCCGCGTGCCAC
GAGAACCTGGTCAAAGTGGGCGGCTACATCCTGGGGGAGTTTGGAAACTTGATAGCTGGAGACCCGAGATCCAGCCCGCTGATCCAGTTC
CACCTGCTGCACTCCAAGTTCCACCTGTGCAGCGTCCCCACCCGCGCGCTGCTCCTGTCCACCTACATCAAGTTCGTGAACCTCTTCCCG
GAGGTGAAGCCCACCATCCAGGACGTGCTGCGCAGCGACAGCCAGCTCAGGAACGCAGACGTGGAGCTGCAGCAGCGTGCTGTGGAGTAC
CTGCGGCTCAGCACCGTGGCCAGCACCGACATTCTGGCGACCGTGCTGGAGGAGATGCCCCCATTCCCGGAGCGGGAGTCCTCCATCTTG
GCAAAGCTCAAGAAGAAGAAGGGCCCCAGCACGGTGACAGACCTGGAGGACACCAAGCGGGACAGGAGTGTGGACGTGAACGGGGGTCCT
GAGCCTGCCCCAGCCAGTACCAGCGCCGTGCACCTGGCCACATTCATCATGGACAAGAGCGAAGCCATCACGTCTGTGGACGACGCCATC
CGGAAGCTGGTGCAGCTGAGCTCCAAGGAGAAGATCTGGACCCAGGAGATGCTGCTGCAGGTGAACGACCAGTCGCTGCGGCTGCTGGAC
ATCGAGTCACAGAGTGCCCAGACCCCGGGTGCGAGTCGTGTCCGCGCGATGTACCCGCAGGAGGAGCTGGAAGACTTCCCGCTGCCCACG
GTGCAGCGCAGCCAGACGGTCCTCAACCAGCTGCGCTACCCGTCTGTGCTGCTGCTCGTGTGCCAGGACTCGGAGCAGAGCAAGCCGGAT
GTCCACTTCTTCCACTGCGATGAGGTGGAGGCAGAGCTGGTGCACGAGGACATCGAGAGCGCGTTGGCCGACTGCCGGCTGGGCAAGAAG
ATGCGGCCGCAGACCCTGAAGGGACACCAGGAGAAGATTCGGCAGCGGCAGTCCATCCTGCCTCCTCCCCAGGGCCCGGCGCCCATCCCC
TTCCAGCACCGCGGCGGGGATTCCCCGGAGGCCAAGAATCGCGTGGGCCCGCAGGTGCCACTCAGCGAGCCAGGTTTCCGCCGTCGGGAG
TCGCAGGAGGAGCCGCGGGCCGTGCTGGCTCAGAAGATAGAGAAGGAGACGCAAATCCTCAACTGCGCCCTGGACGACATCGAGTGGTTT
GTGGCCCGGCTGCAGAAGGCAGCCGAGGCTTTCAAGCAGCTGAACCAGCGGAAAAAGGGGAAGAAGAAGGGCAAGAAGGCGCCAGCAGAG
GGCGTCCTCACACTGCGGGCACGGCCCCCCTCTGAGGGCGAGTTCATCGACTGCTTCCAGAAAATCAAGCTGGCGATTAACTTGCTGGCA
AAGCTGCAGAAGCACATCCAGAACCCCAGCGCCGCGGAGCTCGTGCACTTCCTCTTCGGGCCTCTGGACCTGATCGTCAACACCTGCAGT
GGCCCAGACATCGCACGCTCCGTCTCCTGCCCACTGCTCTCCCGAGATGCCGTGGACTTCCTGCGCGGCCACCTGGTCCCTAAGGAGATG
TCGCTGTGGGAGTCACTGGGAGAGAGCTGGATGCGGCCCCGTTCCGAGTGGCCGCGGGAGCCACAGGTGCCCCTCTACGTGCCCAAGTTC
CACAGCGGCTGGGAGCCTCCTGTGGATGTGCTGCAGGAGGCCCCCTGGGAGGTGGAGGGGCTGGCGTCTGCCCCCATCGAGGAGGTGAGT
CCAGTGAGCCGACAGTCCATAAGAAACTCCCAGAAGCACAGCCCCACTTCAGAGCCCACCCCCCCGGGGGATGCCCTACCACCAGTCAGC
TCCCCACATACTCACAGGGGCTACCAGCCAACACCAGCCATGGCCAAGTACGTCAAGATCCTGTATGACTTCACAGCCCGAAATGCCAAC
GAGCTATCGGTGCTCAAGGATGAGGTCCTAGAGGTGCTGGAGGACGGCCGGCAGTGGTGGAAGCTGCGCAGCCGCAGCGGCCAGGCGGGG
TACGTGCCCTGCAACATCCTAGGCGAGGCGCGACCGGAGGACGCCGGCGCCCCGTTCGAGCAGGCCGGTCAGAAGTACTGGGGCCCCGCC
AGCCCGACCCACAAGCTACCCCCAAGCTTCCCGGGGAACAAAGACGAGCTCATGCAGCACATGGACGAGGTCAACGACGAGCTCATCCGG
AAAATCAGCAACATCAGGGCGCAGCCACAGAGGCACTTCCGCGTGGAGCGCAGCCAGCCCGTGAGCCAGCCGCTCACCTACGAGTCGGGT
CCGGACGAGGTCCGCGCCTGGCTGGAAGCCAAGGCCTTCAGCCCGCGGATCGTGGAGAACCTGGGCATCCTGACCGGGCCGCAGCTCTTC
TCCCTCAACAAGGAGGAGCTGAAGAAAGTGTGCGGCGAGGAGGGCGTCCGCGTGTACAGCCAGCTCACCATGCAGAAGGCCTTCCTGGAG
AAGCAGCAAAGTGGGTCGGAGCTGGAAGAACTCATGAACAAGTTTCATTCCATGAATCAGAGGAGGGGGGAGGACAGCTAGGCCCAGCTG

>5226_5226_2_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000332231_EPS8L2_chr11_720062_ENST00000526198_length(amino acids)=1329AA_BP=646
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFGHMEAVNLLSSNRYTE
KQIGYLFISVLVNSNSELIRLINNAIKNDLASRNPTFMGLALHCIASVGSREMAEAFAGEIPKVLVAGDTMDSVKQSAALCLLRLYRTSP
DLVPMGDWTSRVVHLLNDQHLGVVTAATSLITTLAQKNPEEFKTSVSLAVSRLSRIVTSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPP
PEDPAVRGRLTECLETILNKAQEPPKSKKVQHSNAKNAVLFEAISLIIHHDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSE
FSHEAVKTHIETVINALKTERDVSVRQRAVDLLYAMCDRSNAPQIVAEMLSYLETADYSIREEIVLKVAILAEKYAVDYTWYVDTILNLI
RIAGDYVSEEVWYRVIQIVINRDDVQGYAAKTVFEALQAPACHENLVKVGGYILGEFGNLIAGDPRSSPLIQFHLLHSKFHLCSVPTRAL
LLSTYIKFVNLFPEVKPTIQDVLRSDSQLRNADVELQQRAVEYLRLSTVASTDILATVLEEMPPFPERESSILAKLKKKKGPSTVTDLED
TKRDRSVDVNGGPEPAPASTSAVHLATFIMDKSEAITSVDDAIRKLVQLSSKEKIWTQEMLLQVNDQSLRLLDIESQSAQTPGASRVRAM
YPQEELEDFPLPTVQRSQTVLNQLRYPSVLLLVCQDSEQSKPDVHFFHCDEVEAELVHEDIESALADCRLGKKMRPQTLKGHQEKIRQRQ
SILPPPQGPAPIPFQHRGGDSPEAKNRVGPQVPLSEPGFRRRESQEEPRAVLAQKIEKETQILNCALDDIEWFVARLQKAAEAFKQLNQR
KKGKKKGKKAPAEGVLTLRARPPSEGEFIDCFQKIKLAINLLAKLQKHIQNPSAAELVHFLFGPLDLIVNTCSGPDIARSVSCPLLSRDA
VDFLRGHLVPKEMSLWESLGESWMRPRSEWPREPQVPLYVPKFHSGWEPPVDVLQEAPWEVEGLASAPIEEVSPVSRQSIRNSQKHSPTS
EPTPPGDALPPVSSPHTHRGYQPTPAMAKYVKILYDFTARNANELSVLKDEVLEVLEDGRQWWKLRSRSGQAGYVPCNILGEARPEDAGA
PFEQAGQKYWGPASPTHKLPPSFPGNKDELMQHMDEVNDELIRKISNIRAQPQRHFRVERSQPVSQPLTYESGPDEVRAWLEAKAFSPRI

--------------------------------------------------------------
>5226_5226_3_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000332231_EPS8L2_chr11_720062_ENST00000530636_length(transcript)=4153nt_BP=2100nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGGTGACAAGGCTCTTGATGGCTATAGTAAAAAAAAGTACGTCTGCAAGTTGCTCTTCATCTTTCTCCTTGGTCATGACATTGAC
TTTGGACACATGGAGGCTGTGAACCTGCTGAGTTCAAACAGATACACGGAAAAGCAGATCGGCTACCTTTTCATCTCTGTGTTGGTGAAC
TCAAACAGTGAGCTGATCCGCCTGATCAACAACGCCATCAAGAATGACCTGGCCAGCCGCAACCCCACCTTCATGGGCCTGGCCCTGCAC
TGCATCGCCAGCGTGGGCAGCCGGGAGATGGCCGAGGCCTTCGCCGGGGAGATCCCTAAGGTCCTCGTAGCCGGAGACACTATGGACAGC
GTGAAGCAGAGCGCGGCCCTGTGCTTGCTGCGCCTGTACAGGACGTCCCCCGATCTTGTCCCCATGGGCGACTGGACATCCCGAGTGGTG
CACCTGCTCAATGACCAGCACTTGGGTGTGGTAACTGCAGCCACAAGTCTGATCACCACTTTAGCACAGAAGAACCCAGAAGAGTTTAAA
ACCTCCGTGTCTCTGGCTGTCTCTAGGCTAAGCAGAATCGTGACGTCTGCATCCACAGATCTCCAGGATTACACTTACTATTTTGTCCCG
GCTCCCTGGCTGTCTGTCAAACTGCTGAGACTGCTGCAGTGCTACCCACCCCCAGAAGACCCTGCAGTGCGAGGCCGCCTGACTGAGTGC
CTGGAGACCATCCTGAACAAAGCCCAAGAACCGCCCAAGTCGAAGAAGGTCCAGCACTCCAACGCGAAGAATGCCGTGCTCTTCGAGGCC
ATCAGCTTAATCATTCACCATGACAGTGAGCCGAACCTGCTCGTCCGTGCCTGCAACCAGTTGGGCCAGTTTCTGCAGCACCGCGAGACC
AACCTGCGCTACCTGGCCCTGGAGAGCATGTGCACGCTGGCCAGCTCTGAGTTCTCCCATGAGGCTGTCAAGACGCACATCGAGACGGTC
ATCAACGCCCTGAAGACTGAGCGGGACGTGAGCGTGCGGCAGCGGGCCGTGGACCTCCTCTACGCCATGTGCGACCGCAGCAACGCCCCA
CAGATCGTGGCCGAGATGCTGAGCTATCTGGAGACAGCTGACTACTCCATCCGAGAAGAGATTGTGCTGAAGGTCGCCATCCTGGCTGAG
AAGTACGCGGTGGACTACACCTGGTATGTGGATACCATCTTGAACTTGATCCGAATTGCTGGTGATTACGTGAGTGAAGAGGTGTGGTAC
CGAGTCATTCAGATCGTCATCAACCGGGACGACGTGCAGGGCTACGCGGCCAAGACTGTGTTCGAGGCTCTTCAGGCTCCCGCGTGCCAC
GAGAACCTGGTCAAAGTGGGCGGCTACATCCTGGGGGAGTTTGGAAACTTGATAGCTGGAGACCCGAGATCCAGCCCGCTGATCCAGTTC
CACCTGCTGCACTCCAAGTTCCACCTGTGCAGCGTCCCCACCCGCGCGCTGCTCCTGTCCACCTACATCAAGTTCGTGAACCTCTTCCCG
GAGGTGAAGCCCACCATCCAGGACGTGCTGCGCAGCGACAGCCAGCTCAGGAACGCAGACGTGGAGCTGCAGCAGCGTGCTGTGGAGTAC
CTGCGGCTCAGCACCGTGGCCAGCACCGACATTCTGGCGACCGTGCTGGAGGAGATGCCCCCATTCCCGGAGCGGGAGTCCTCCATCTTG
GCAAAGCTCAAGAAGAAGAAGGGCCCCAGCACGGTGACAGACCTGGAGGACACCAAGCGGGACAGGAGTGTGGACGTGAACGGGGGTCCT
GAGCCTGCCCCAGCCAGTACCAGCGCCGTGCACCTGGCCACATTCATCATGGACAAGAGCGAAGCCATCACGTCTGTGGACGACGCCATC
CGGAAGCTGGTGCAGCTGAGCTCCAAGGAGAAGATCTGGACCCAGGAGATGCTGCTGCAGGTGAACGACCAGTCGCTGCGGCTGCTGGAC
ATCGAGTCACAGGAGGAGCTGGAAGACTTCCCGCTGCCCACGGTGCAGCGCAGCCAGACGGTCCTCAACCAGCTGCGCTACCCGTCTGTG
CTGCTGCTCGTGTGCCAGGACTCGGAGCAGAGCAAGCCGGATGTCCACTTCTTCCACTGCGATGAGGTGGAGGCAGAGCTGGTGCACGAG
GACATCGAGAGCGCGTTGGCCGACTGCCGGCTGGGCAAGAAGATGCGGCCGCAGACCCTGAAGGGACACCAGGAGAAGATTCGGCAGCGG
CAGTCCATCCTGCCTCCTCCCCAGGGCCCGGCGCCCATCCCCTTCCAGCACCGCGGCGGGGATTCCCCGGAGGCCAAGAATCGCGTGGGC
CCGCAGGTGCCACTCAGCGAGCCAGGTTTCCGCCGTCGGGAGTCGCAGGAGGAGCCGCGGGCCGTGCTGGCTCAGAAGATAGAGAAGGAG
ACGCAAATCCTCAACTGCGCCCTGGACGACATCGAGTGGTTTGTGGCCCGGCTGCAGAAGGCAGCCGAGGCTTTCAAGCAGCTGAACCAG
CGGAAAAAGGGGAAGAAGAAGGGCAAGAAGGCGCCAGCAGAGGGCGTCCTCACACTGCGGGCACGGCCCCCCTCTGAGGGCGAGTTCATC
GACTGCTTCCAGAAAATCAAGCTGGCGATTAACTTGCTGGCAAAGCTGCAGAAGCACATCCAGAACCCCAGCGCCGCGGAGCTCGTGCAC
TTCCTCTTCGGGCCTCTGGACCTGATCGTCAACACCTGCAGTGGCCCAGACATCGCACGCTCCGTCTCCTGCCCACTGCTCTCCCGAGAT
GCCGTGGACTTCCTGCGCGGCCACCTGGTCCCTAAGGAGATGTCGCTGTGGGAGTCACTGGGAGAGAGCTGGATGCGGCCCCGTTCCGAG
TGGCCGCGGGAGCCACAGGTGCCCCTCTACGTGCCCAAGTTCCACAGCGGCTGGGAGCCTCCTGTGGATGTGCTGCAGGAGGCCCCCTGG
GAGGTGGAGGGGCTGGCGTCTGCCCCCATCGAGGAGGTGAGTCCAGTGAGCCGACAGTCCATAAGAAACTCCCAGAAGCACAGCCCCACT
TCAGAGCCCACCCCCCCGGGGGATGCCCTACCACCAGTCAGCTCCCCACATACTCACAGGGGCTACCAGCCAACACCAGCCATGGCCAAG
TACGTCAAGATCCTGTATGACTTCACAGCCCGAAATGCCAACGAGCTATCGGTGCTCAAGGATGAGGTCCTAGAGGTGCTGGAGGACGGC
CGGCAGTGGTGGAAGCTGCGCAGCCGCAGCGGCCAGGCGGGGTACGTGCCCTGCAACATCCTAGGCGAGGCGCGACCGGAGGACGCCGGC
GCCCCGTTCGAGCAGGCCGGTCAGAAGTACTGGGGCCCCGCCAGCCCGACCCACAAGCTACCCCCAAGCTTCCCGGGGAACAAAGACGAG
CTCATGCAGCACATGGACGAGGTCAACGACGAGCTCATCCGGAAAATCAGCAACATCAGGGCGCAGCCACAGAGGCACTTCCGCGTGGAG
CGCAGCCAGCCCGTGAGCCAGCCGCTCACCTACGAGTCGGGTCCGGACGAGGTCCGCGCCTGGCTGGAAGCCAAGGCCTTCAGCCCGCGG
ATCGTGGAGAACCTGGGCATCCTGACCGGGCCGCAGCTCTTCTCCCTCAACAAGGAGGAGCTGAAGAAAGTGTGCGGCGAGGAGGGCGTC
CGCGTGTACAGCCAGCTCACCATGCAGAAGGCCTTCCTGGAGAAGCAGCAAAGTGGGTCGGAGCTGGAAGAACTCATGAACAAGTTTCAT
TCCATGAATCAGAGGAGGGGGGAGGACAGCTAGGCCCAGCTGCCTTGGGCTGGGGCCTGCGGAGGGGAAGCCCACCCACAATGCATGGAG

>5226_5226_3_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000332231_EPS8L2_chr11_720062_ENST00000530636_length(amino acids)=1313AA_BP=646
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFGHMEAVNLLSSNRYTE
KQIGYLFISVLVNSNSELIRLINNAIKNDLASRNPTFMGLALHCIASVGSREMAEAFAGEIPKVLVAGDTMDSVKQSAALCLLRLYRTSP
DLVPMGDWTSRVVHLLNDQHLGVVTAATSLITTLAQKNPEEFKTSVSLAVSRLSRIVTSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPP
PEDPAVRGRLTECLETILNKAQEPPKSKKVQHSNAKNAVLFEAISLIIHHDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSE
FSHEAVKTHIETVINALKTERDVSVRQRAVDLLYAMCDRSNAPQIVAEMLSYLETADYSIREEIVLKVAILAEKYAVDYTWYVDTILNLI
RIAGDYVSEEVWYRVIQIVINRDDVQGYAAKTVFEALQAPACHENLVKVGGYILGEFGNLIAGDPRSSPLIQFHLLHSKFHLCSVPTRAL
LLSTYIKFVNLFPEVKPTIQDVLRSDSQLRNADVELQQRAVEYLRLSTVASTDILATVLEEMPPFPERESSILAKLKKKKGPSTVTDLED
TKRDRSVDVNGGPEPAPASTSAVHLATFIMDKSEAITSVDDAIRKLVQLSSKEKIWTQEMLLQVNDQSLRLLDIESQEELEDFPLPTVQR
SQTVLNQLRYPSVLLLVCQDSEQSKPDVHFFHCDEVEAELVHEDIESALADCRLGKKMRPQTLKGHQEKIRQRQSILPPPQGPAPIPFQH
RGGDSPEAKNRVGPQVPLSEPGFRRRESQEEPRAVLAQKIEKETQILNCALDDIEWFVARLQKAAEAFKQLNQRKKGKKKGKKAPAEGVL
TLRARPPSEGEFIDCFQKIKLAINLLAKLQKHIQNPSAAELVHFLFGPLDLIVNTCSGPDIARSVSCPLLSRDAVDFLRGHLVPKEMSLW
ESLGESWMRPRSEWPREPQVPLYVPKFHSGWEPPVDVLQEAPWEVEGLASAPIEEVSPVSRQSIRNSQKHSPTSEPTPPGDALPPVSSPH
THRGYQPTPAMAKYVKILYDFTARNANELSVLKDEVLEVLEDGRQWWKLRSRSGQAGYVPCNILGEARPEDAGAPFEQAGQKYWGPASPT
HKLPPSFPGNKDELMQHMDEVNDELIRKISNIRAQPQRHFRVERSQPVSQPLTYESGPDEVRAWLEAKAFSPRIVENLGILTGPQLFSLN

--------------------------------------------------------------
>5226_5226_4_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000332231_EPS8L2_chr11_720062_ENST00000533256_length(transcript)=4826nt_BP=2100nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGGTGACAAGGCTCTTGATGGCTATAGTAAAAAAAAGTACGTCTGCAAGTTGCTCTTCATCTTTCTCCTTGGTCATGACATTGAC
TTTGGACACATGGAGGCTGTGAACCTGCTGAGTTCAAACAGATACACGGAAAAGCAGATCGGCTACCTTTTCATCTCTGTGTTGGTGAAC
TCAAACAGTGAGCTGATCCGCCTGATCAACAACGCCATCAAGAATGACCTGGCCAGCCGCAACCCCACCTTCATGGGCCTGGCCCTGCAC
TGCATCGCCAGCGTGGGCAGCCGGGAGATGGCCGAGGCCTTCGCCGGGGAGATCCCTAAGGTCCTCGTAGCCGGAGACACTATGGACAGC
GTGAAGCAGAGCGCGGCCCTGTGCTTGCTGCGCCTGTACAGGACGTCCCCCGATCTTGTCCCCATGGGCGACTGGACATCCCGAGTGGTG
CACCTGCTCAATGACCAGCACTTGGGTGTGGTAACTGCAGCCACAAGTCTGATCACCACTTTAGCACAGAAGAACCCAGAAGAGTTTAAA
ACCTCCGTGTCTCTGGCTGTCTCTAGGCTAAGCAGAATCGTGACGTCTGCATCCACAGATCTCCAGGATTACACTTACTATTTTGTCCCG
GCTCCCTGGCTGTCTGTCAAACTGCTGAGACTGCTGCAGTGCTACCCACCCCCAGAAGACCCTGCAGTGCGAGGCCGCCTGACTGAGTGC
CTGGAGACCATCCTGAACAAAGCCCAAGAACCGCCCAAGTCGAAGAAGGTCCAGCACTCCAACGCGAAGAATGCCGTGCTCTTCGAGGCC
ATCAGCTTAATCATTCACCATGACAGTGAGCCGAACCTGCTCGTCCGTGCCTGCAACCAGTTGGGCCAGTTTCTGCAGCACCGCGAGACC
AACCTGCGCTACCTGGCCCTGGAGAGCATGTGCACGCTGGCCAGCTCTGAGTTCTCCCATGAGGCTGTCAAGACGCACATCGAGACGGTC
ATCAACGCCCTGAAGACTGAGCGGGACGTGAGCGTGCGGCAGCGGGCCGTGGACCTCCTCTACGCCATGTGCGACCGCAGCAACGCCCCA
CAGATCGTGGCCGAGATGCTGAGCTATCTGGAGACAGCTGACTACTCCATCCGAGAAGAGATTGTGCTGAAGGTCGCCATCCTGGCTGAG
AAGTACGCGGTGGACTACACCTGGTATGTGGATACCATCTTGAACTTGATCCGAATTGCTGGTGATTACGTGAGTGAAGAGGTGTGGTAC
CGAGTCATTCAGATCGTCATCAACCGGGACGACGTGCAGGGCTACGCGGCCAAGACTGTGTTCGAGGCTCTTCAGGCTCCCGCGTGCCAC
GAGAACCTGGTCAAAGTGGGCGGCTACATCCTGGGGGAGTTTGGAAACTTGATAGCTGGAGACCCGAGATCCAGCCCGCTGATCCAGTTC
CACCTGCTGCACTCCAAGTTCCACCTGTGCAGCGTCCCCACCCGCGCGCTGCTCCTGTCCACCTACATCAAGTTCGTGAACCTCTTCCCG
GAGGTGAAGCCCACCATCCAGGACGTGCTGCGCAGCGACAGCCAGCTCAGGAACGCAGACGTGGAGCTGCAGCAGCGTGCTGTGGAGTAC
CTGCGGCTCAGCACCGTGGCCAGCACCGACATTCTGGCGACCGTGCTGGAGGAGATGCCCCCATTCCCGGAGCGGGAGTCCTCCATCTTG
GCAAAGCTCAAGAAGAAGAAGGGCCCCAGCACGGTGACAGACCTGGAGGACACCAAGCGGGACAGGAGTGTGGACGTGAACGGGGGTCCT
GAGCCTGCCCCAGCCAGTACCAGCGCCGTGCACCTGGCCACATTCATCATGGACAAGAGCGAAGCCATCACGTCTGTGGACGACGCCATC
CGGAAGCTGGTGCAGCTGAGCTCCAAGGAGAAGATCTGGACCCAGGAGATGCTGCTGCAGGTGAACGACCAGTCGCTGCGGCTGCTGGAC
ATCGAGTCACAGGAGGAGCTGGAAGACTTCCCGCTGCCCACGGTGCAGCGCAGCCAGACGGTCCTCAACCAGCTGCGCTACCCGTCTGTG
CTGCTGCTCGTGTGCCAGGACTCGGAGCAGAGCAAGCCGGATGTCCACTTCTTCCACTGCGATGAGGTGGAGGCAGAGCTGGTGCACGAG
GACATCGAGAGCGCGTTGGCCGACTGCCGGCTGGGCAAGAAGATGCGGCCGCAGACCCTGAAGGGACACCAGGAGAAGATTCGGCAGCGG
CAGTCCATCCTGCCTCCTCCCCAGGGCCCGGCGCCCATCCCCTTCCAGCACCGCGGCGGGGATTCCCCGGAGGCCAAGAATCGCGTGGGC
CCGCAGGTGCCACTCAGCGAGCCAGGTTTCCGCCGTCGGGAGTCGCAGGAGGAGCCGCGGGCCGTGCTGGCTCAGAAGATAGAGAAGGAG
ACGCAAATCCTCAACTGCGCCCTGGACGACATCGAGTGGTTTGTGGCCCGGCTGCAGAAGGCAGCCGAGGCTTTCAAGCAGCTGAACCAG
CGGAAAAAGGGGAAGAAGAAGGGCAAGAAGGCGCCAGCAGAGGGCGTCCTCACACTGCGGGCACGGCCCCCCTCTGAGGGCGAGTTCATC
GACTGCTTCCAGAAAATCAAGCTGGCGATTAACTTGCTGGCAAAGCTGCAGAAGCACATCCAGAACCCCAGCGCCGCGGAGCTCGTGCAC
TTCCTCTTCGGGCCTCTGGACCTGATCGTCAACACCTGCAGTGGCCCAGACATCGCACGCTCCGTCTCCTGCCCACTGCTCTCCCGAGAT
GCCGTGGACTTCCTGCGCGGCCACCTGGTCCCTAAGGAGATGTCGCTGTGGGAGTCACTGGGAGAGAGCTGGATGCGGCCCCGTTCCGAG
TGGCCGCGGGAGCCACAGGTGCCCCTCTACGTGCCCAAGTTCCACAGCGGCTGGGAGCCTCCTGTGGATGTGCTGCAGGAGGCCCCCTGG
GAGGTGGAGGGGCTGGCGTCTGCCCCCATCGAGGAGGTGAGTCCAGTGAGCCGACAGTCCATAAGAAACTCCCAGAAGCACAGCCCCACT
TCAGAGCCCACCCCCCCGGGGGATGCCCTACCACCAGTCAGCTCCCCACATACTCACAGGGGCTACCAGCCAACACCAGCCATGGCCAAG
TACGTCAAGATCCTGTATGACTTCACAGCCCGAAATGCCAACGAGCTATCGGTGCTCAAGGATGAGGTCCTAGAGGTGCTGGAGGACGGC
CGGCAGTGGTGGAAGCTGCGCAGCCGCAGCGGCCAGGCGGGGTACGTGCCCTGCAACATCCTAGGCGAGGCGCGACCGGAGGACGCCGGC
GCCCCGTTCGAGCAGGCCGGTCAGAAGTACTGGGGCCCCGCCAGCCCGACCCACAAGCTACCCCCAAGCTTCCCGGGGAACAAAGACGAG
CTCATGCAGCACATGGACGAGGTCAACGACGAGCTCATCCGGAAAATCAGCAACATCAGGGCGCAGCCACAGAGGCACTTCCGCGTGGAG
CGCAGCCAGCCCGTGAGCCAGCCGCTCACCTACGAGTCGGGTCCGGACGAGGTCCGCGCCTGGCTGGAAGCCAAGGCCTTCAGCCCGCGG
ATCGTGGAGAACCTGGGCATCCTGACCGGGCCGCAGCTCTTCTCCCTCAACAAGGAGGAGCTGAAGAAAGTGTGCGGCGAGGAGGGCGTC
CGCGTGTACAGCCAGCTCACCATGCAGAAGGCCTTCCTGGAGAAGCAGCAAAGTGGGTCGGAGCTGGAAGAACTCATGAACAAGTTTCAT
TCCATGAATCAGAGGAGGGGGGAGGACAGCTAGGCCCAGCTGCCTTGGGCTGGGGCCTGCGGAGGGGAAGCCCACCCACAATGCATGGAG
TATTATTTTTATATGTGTATGTATTTTGTATCAAGGACACGGAGGGGGTGTGGTGCTGGCTAGAGGTCCCTGCCCCTGTCTGGAGGCACA
ACGCCCATCCTTAGGCCAAACAGTACCCAAGGCCTCAGCCCACACCAAGACTAATCTCAGCCAAACCTGCTGCTTGGTGGTGCCAGCCCC
TTGTCCACCTTCTCTTGAGGCCACAGAACTCCCTGGGGCTGGGGCCTCTTTCTCTGGCCTCCCCTGTGCACCTGGGGGGTCCTGGCCCCT
GTGATGCTCCCCCATCCCCACCCACTTCTACATCCATCCACACCCCAGGGTGAGCTGGAGCTCCAGGCTGGCCAGGCTGAACCTCGCACA
CACGCAGAGTTCTGCTCCCTGAGGGGGGCCCGGGAGGGGCTCCAGCAGGAGGCCGTGGGTGCCATTCGGGGGAAAGTGGGGGAACGACAC
ACACTTCACCTGCAAGGGCCGACAACGCAGGGGACACCGTGCCGGCTTCAGACACTCCCAGCGCCCACTCTTACAGGCCCAGGACTGGAG
CTTTCTCTGGCCAAGTTTCAGGCCAATGATCCCCGCATGGTGTTGGGGGTGCTGGTGTGTCTTGGTGCCTGGACTTGAGTCTCACCCTAC

>5226_5226_4_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000332231_EPS8L2_chr11_720062_ENST00000533256_length(amino acids)=1313AA_BP=646
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFGHMEAVNLLSSNRYTE
KQIGYLFISVLVNSNSELIRLINNAIKNDLASRNPTFMGLALHCIASVGSREMAEAFAGEIPKVLVAGDTMDSVKQSAALCLLRLYRTSP
DLVPMGDWTSRVVHLLNDQHLGVVTAATSLITTLAQKNPEEFKTSVSLAVSRLSRIVTSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPP
PEDPAVRGRLTECLETILNKAQEPPKSKKVQHSNAKNAVLFEAISLIIHHDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSE
FSHEAVKTHIETVINALKTERDVSVRQRAVDLLYAMCDRSNAPQIVAEMLSYLETADYSIREEIVLKVAILAEKYAVDYTWYVDTILNLI
RIAGDYVSEEVWYRVIQIVINRDDVQGYAAKTVFEALQAPACHENLVKVGGYILGEFGNLIAGDPRSSPLIQFHLLHSKFHLCSVPTRAL
LLSTYIKFVNLFPEVKPTIQDVLRSDSQLRNADVELQQRAVEYLRLSTVASTDILATVLEEMPPFPERESSILAKLKKKKGPSTVTDLED
TKRDRSVDVNGGPEPAPASTSAVHLATFIMDKSEAITSVDDAIRKLVQLSSKEKIWTQEMLLQVNDQSLRLLDIESQEELEDFPLPTVQR
SQTVLNQLRYPSVLLLVCQDSEQSKPDVHFFHCDEVEAELVHEDIESALADCRLGKKMRPQTLKGHQEKIRQRQSILPPPQGPAPIPFQH
RGGDSPEAKNRVGPQVPLSEPGFRRRESQEEPRAVLAQKIEKETQILNCALDDIEWFVARLQKAAEAFKQLNQRKKGKKKGKKAPAEGVL
TLRARPPSEGEFIDCFQKIKLAINLLAKLQKHIQNPSAAELVHFLFGPLDLIVNTCSGPDIARSVSCPLLSRDAVDFLRGHLVPKEMSLW
ESLGESWMRPRSEWPREPQVPLYVPKFHSGWEPPVDVLQEAPWEVEGLASAPIEEVSPVSRQSIRNSQKHSPTSEPTPPGDALPPVSSPH
THRGYQPTPAMAKYVKILYDFTARNANELSVLKDEVLEVLEDGRQWWKLRSRSGQAGYVPCNILGEARPEDAGAPFEQAGQKYWGPASPT
HKLPPSFPGNKDELMQHMDEVNDELIRKISNIRAQPQRHFRVERSQPVSQPLTYESGPDEVRAWLEAKAFSPRIVENLGILTGPQLFSLN

--------------------------------------------------------------
>5226_5226_5_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000448903_EPS8L2_chr11_720062_ENST00000318562_length(transcript)=4826nt_BP=2097nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGGTGACAAGGCTCTTGATGGCTATAGTAAAAAAAAGTACGTCTGCAAGTTGCTCTTCATCTTTCTCCTTGGTCATGACATTGAC
TTTGGACACATGGAGGCTGTGAACCTGCTGAGTTCAAACAGATACACGGAAAAGCAGATCGGCTACCTTTTCATCTCTGTGTTGGTGAAC
TCAAACAGTGAGCTGATCCGCCTGATCAACAACGCCATCAAGAATGACCTGGCCAGCCGCAACCCCACCTTCATGGGCCTGGCCCTGCAC
TGCATCGCCAGCGTGGGCAGCCGGGAGATGGCCGAGGCCTTCGCCGGGGAGATCCCTAAGGTCCTCGTAGCCGGAGACACTATGGACAGC
GTGAAGCAGAGCGCGGCCCTGTGCTTGCTGCGCCTGTACAGGACGTCCCCCGATCTTGTCCCCATGGGCGACTGGACATCCCGAGTGGTG
CACCTGCTCAATGACCAGCACTTGGGTGTGGTAACTGCAGCCACAAGTCTGATCACCACTTTAGCACAGAAGAACCCAGAAGAGTTTAAA
ACCTCCGTGTCTCTGGCTGTCTCTAGGCTAAGCAGAATCGTGACGTCTGCATCCACAGATCTCCAGGATTACACTTACTATTTTGTCCCG
GCTCCCTGGCTGTCTGTCAAACTGCTGAGACTGCTGCAGTGCTACCCACCCCCAGACCCTGCAGTGCGAGGCCGCCTGACTGAGTGCCTG
GAGACCATCCTGAACAAAGCCCAAGAACCGCCCAAGTCGAAGAAGGTCCAGCACTCCAACGCGAAGAATGCCGTGCTCTTCGAGGCCATC
AGCTTAATCATTCACCATGACAGTGAGCCGAACCTGCTCGTCCGTGCCTGCAACCAGTTGGGCCAGTTTCTGCAGCACCGCGAGACCAAC
CTGCGCTACCTGGCCCTGGAGAGCATGTGCACGCTGGCCAGCTCTGAGTTCTCCCATGAGGCTGTCAAGACGCACATCGAGACGGTCATC
AACGCCCTGAAGACTGAGCGGGACGTGAGCGTGCGGCAGCGGGCCGTGGACCTCCTCTACGCCATGTGCGACCGCAGCAACGCCCCACAG
ATCGTGGCCGAGATGCTGAGCTATCTGGAGACAGCTGACTACTCCATCCGAGAAGAGATTGTGCTGAAGGTCGCCATCCTGGCTGAGAAG
TACGCGGTGGACTACACCTGGTATGTGGATACCATCTTGAACTTGATCCGAATTGCTGGTGATTACGTGAGTGAAGAGGTGTGGTACCGA
GTCATTCAGATCGTCATCAACCGGGACGACGTGCAGGGCTACGCGGCCAAGACTGTGTTCGAGGCTCTTCAGGCTCCCGCGTGCCACGAG
AACCTGGTCAAAGTGGGCGGCTACATCCTGGGGGAGTTTGGAAACTTGATAGCTGGAGACCCGAGATCCAGCCCGCTGATCCAGTTCCAC
CTGCTGCACTCCAAGTTCCACCTGTGCAGCGTCCCCACCCGCGCGCTGCTCCTGTCCACCTACATCAAGTTCGTGAACCTCTTCCCGGAG
GTGAAGCCCACCATCCAGGACGTGCTGCGCAGCGACAGCCAGCTCAGGAACGCAGACGTGGAGCTGCAGCAGCGTGCTGTGGAGTACCTG
CGGCTCAGCACCGTGGCCAGCACCGACATTCTGGCGACCGTGCTGGAGGAGATGCCCCCATTCCCGGAGCGGGAGTCCTCCATCTTGGCA
AAGCTCAAGAAGAAGAAGGGCCCCAGCACGGTGACAGACCTGGAGGACACCAAGCGGGACAGGAGTGTGGACGTGAACGGGGGTCCTGAG
CCTGCCCCAGCCAGTACCAGCGCCGTGCACCTGGCCACATTCATCATGGACAAGAGCGAAGCCATCACGTCTGTGGACGACGCCATCCGG
AAGCTGGTGCAGCTGAGCTCCAAGGAGAAGATCTGGACCCAGGAGATGCTGCTGCAGGTGAACGACCAGTCGCTGCGGCTGCTGGACATC
GAGTCACAGGAGGAGCTGGAAGACTTCCCGCTGCCCACGGTGCAGCGCAGCCAGACGGTCCTCAACCAGCTGCGCTACCCGTCTGTGCTG
CTGCTCGTGTGCCAGGACTCGGAGCAGAGCAAGCCGGATGTCCACTTCTTCCACTGCGATGAGGTGGAGGCAGAGCTGGTGCACGAGGAC
ATCGAGAGCGCGTTGGCCGACTGCCGGCTGGGCAAGAAGATGCGGCCGCAGACCCTGAAGGGACACCAGGAGAAGATTCGGCAGCGGCAG
TCCATCCTGCCTCCTCCCCAGGGCCCGGCGCCCATCCCCTTCCAGCACCGCGGCGGGGATTCCCCGGAGGCCAAGAATCGCGTGGGCCCG
CAGGTGCCACTCAGCGAGCCAGGTTTCCGCCGTCGGGAGTCGCAGGAGGAGCCGCGGGCCGTGCTGGCTCAGAAGATAGAGAAGGAGACG
CAAATCCTCAACTGCGCCCTGGACGACATCGAGTGGTTTGTGGCCCGGCTGCAGAAGGCAGCCGAGGCTTTCAAGCAGCTGAACCAGCGG
AAAAAGGGGAAGAAGAAGGGCAAGAAGGCGCCAGCAGAGGGCGTCCTCACACTGCGGGCACGGCCCCCCTCTGAGGGCGAGTTCATCGAC
TGCTTCCAGAAAATCAAGCTGGCGATTAACTTGCTGGCAAAGCTGCAGAAGCACATCCAGAACCCCAGCGCCGCGGAGCTCGTGCACTTC
CTCTTCGGGCCTCTGGACCTGATCGTCAACACCTGCAGTGGCCCAGACATCGCACGCTCCGTCTCCTGCCCACTGCTCTCCCGAGATGCC
GTGGACTTCCTGCGCGGCCACCTGGTCCCTAAGGAGATGTCGCTGTGGGAGTCACTGGGAGAGAGCTGGATGCGGCCCCGTTCCGAGTGG
CCGCGGGAGCCACAGGTGCCCCTCTACGTGCCCAAGTTCCACAGCGGCTGGGAGCCTCCTGTGGATGTGCTGCAGGAGGCCCCCTGGGAG
GTGGAGGGGCTGGCGTCTGCCCCCATCGAGGAGGTGAGTCCAGTGAGCCGACAGTCCATAAGAAACTCCCAGAAGCACAGCCCCACTTCA
GAGCCCACCCCCCCGGGGGATGCCCTACCACCAGTCAGCTCCCCACATACTCACAGGGGCTACCAGCCAACACCAGCCATGGCCAAGTAC
GTCAAGATCCTGTATGACTTCACAGCCCGAAATGCCAACGAGCTATCGGTGCTCAAGGATGAGGTCCTAGAGGTGCTGGAGGACGGCCGG
CAGTGGTGGAAGCTGCGCAGCCGCAGCGGCCAGGCGGGGTACGTGCCCTGCAACATCCTAGGCGAGGCGCGACCGGAGGACGCCGGCGCC
CCGTTCGAGCAGGCCGGTCAGAAGTACTGGGGCCCCGCCAGCCCGACCCACAAGCTACCCCCAAGCTTCCCGGGGAACAAAGACGAGCTC
ATGCAGCACATGGACGAGGTCAACGACGAGCTCATCCGGAAAATCAGCAACATCAGGGCGCAGCCACAGAGGCACTTCCGCGTGGAGCGC
AGCCAGCCCGTGAGCCAGCCGCTCACCTACGAGTCGGGTCCGGACGAGGTCCGCGCCTGGCTGGAAGCCAAGGCCTTCAGCCCGCGGATC
GTGGAGAACCTGGGCATCCTGACCGGGCCGCAGCTCTTCTCCCTCAACAAGGAGGAGCTGAAGAAAGTGTGCGGCGAGGAGGGCGTCCGC
GTGTACAGCCAGCTCACCATGCAGAAGGCCTTCCTGGAGAAGCAGCAAAGTGGGTCGGAGCTGGAAGAACTCATGAACAAGTTTCATTCC
ATGAATCAGAGGAGGGGGGAGGACAGCTAGGCCCAGCTGCCTTGGGCTGGGGCCTGCGGAGGGGAAGCCCACCCACAATGCATGGAGTAT
TATTTTTATATGTGTATGTATTTTGTATCAAGGACACGGAGGGGGTGTGGTGCTGGCTAGAGGTCCCTGCCCCTGTCTGGAGGCACAACG
CCCATCCTTAGGCCAAACAGTACCCAAGGCCTCAGCCCACACCAAGACTAATCTCAGCCAAACCTGCTGCTTGGTGGTGCCAGCCCCTTG
TCCACCTTCTCTTGAGGCCACAGAACTCCCTGGGGCTGGGGCCTCTTTCTCTGGCCTCCCCTGTGCACCTGGGGGGTCCTGGCCCCTGTG
ATGCTCCCCCATCCCCACCCACTTCTACATCCATCCACACCCCAGGGTGAGCTGGAGCTCCAGGCTGGCCAGGCTGAACCTCGCACACAC
GCAGAGTTCTGCTCCCTGAGGGGGGCCCGGGAGGGGCTCCAGCAGGAGGCCGTGGGTGCCATTCGGGGGAAAGTGGGGGAACGACACACA
CTTCACCTGCAAGGGCCGACAACGCAGGGGACACCGTGCCGGCTTCAGACACTCCCAGCGCCCACTCTTACAGGCCCAGGACTGGAGCTT
TCTCTGGCCAAGTTTCAGGCCAATGATCCCCGCATGGTGTTGGGGGTGCTGGTGTGTCTTGGTGCCTGGACTTGAGTCTCACCCTACAGA

>5226_5226_5_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000448903_EPS8L2_chr11_720062_ENST00000318562_length(amino acids)=1312AA_BP=645
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFGHMEAVNLLSSNRYTE
KQIGYLFISVLVNSNSELIRLINNAIKNDLASRNPTFMGLALHCIASVGSREMAEAFAGEIPKVLVAGDTMDSVKQSAALCLLRLYRTSP
DLVPMGDWTSRVVHLLNDQHLGVVTAATSLITTLAQKNPEEFKTSVSLAVSRLSRIVTSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPP
PDPAVRGRLTECLETILNKAQEPPKSKKVQHSNAKNAVLFEAISLIIHHDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSEF
SHEAVKTHIETVINALKTERDVSVRQRAVDLLYAMCDRSNAPQIVAEMLSYLETADYSIREEIVLKVAILAEKYAVDYTWYVDTILNLIR
IAGDYVSEEVWYRVIQIVINRDDVQGYAAKTVFEALQAPACHENLVKVGGYILGEFGNLIAGDPRSSPLIQFHLLHSKFHLCSVPTRALL
LSTYIKFVNLFPEVKPTIQDVLRSDSQLRNADVELQQRAVEYLRLSTVASTDILATVLEEMPPFPERESSILAKLKKKKGPSTVTDLEDT
KRDRSVDVNGGPEPAPASTSAVHLATFIMDKSEAITSVDDAIRKLVQLSSKEKIWTQEMLLQVNDQSLRLLDIESQEELEDFPLPTVQRS
QTVLNQLRYPSVLLLVCQDSEQSKPDVHFFHCDEVEAELVHEDIESALADCRLGKKMRPQTLKGHQEKIRQRQSILPPPQGPAPIPFQHR
GGDSPEAKNRVGPQVPLSEPGFRRRESQEEPRAVLAQKIEKETQILNCALDDIEWFVARLQKAAEAFKQLNQRKKGKKKGKKAPAEGVLT
LRARPPSEGEFIDCFQKIKLAINLLAKLQKHIQNPSAAELVHFLFGPLDLIVNTCSGPDIARSVSCPLLSRDAVDFLRGHLVPKEMSLWE
SLGESWMRPRSEWPREPQVPLYVPKFHSGWEPPVDVLQEAPWEVEGLASAPIEEVSPVSRQSIRNSQKHSPTSEPTPPGDALPPVSSPHT
HRGYQPTPAMAKYVKILYDFTARNANELSVLKDEVLEVLEDGRQWWKLRSRSGQAGYVPCNILGEARPEDAGAPFEQAGQKYWGPASPTH
KLPPSFPGNKDELMQHMDEVNDELIRKISNIRAQPQRHFRVERSQPVSQPLTYESGPDEVRAWLEAKAFSPRIVENLGILTGPQLFSLNK

--------------------------------------------------------------
>5226_5226_6_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000448903_EPS8L2_chr11_720062_ENST00000526198_length(transcript)=4181nt_BP=2097nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGGTGACAAGGCTCTTGATGGCTATAGTAAAAAAAAGTACGTCTGCAAGTTGCTCTTCATCTTTCTCCTTGGTCATGACATTGAC
TTTGGACACATGGAGGCTGTGAACCTGCTGAGTTCAAACAGATACACGGAAAAGCAGATCGGCTACCTTTTCATCTCTGTGTTGGTGAAC
TCAAACAGTGAGCTGATCCGCCTGATCAACAACGCCATCAAGAATGACCTGGCCAGCCGCAACCCCACCTTCATGGGCCTGGCCCTGCAC
TGCATCGCCAGCGTGGGCAGCCGGGAGATGGCCGAGGCCTTCGCCGGGGAGATCCCTAAGGTCCTCGTAGCCGGAGACACTATGGACAGC
GTGAAGCAGAGCGCGGCCCTGTGCTTGCTGCGCCTGTACAGGACGTCCCCCGATCTTGTCCCCATGGGCGACTGGACATCCCGAGTGGTG
CACCTGCTCAATGACCAGCACTTGGGTGTGGTAACTGCAGCCACAAGTCTGATCACCACTTTAGCACAGAAGAACCCAGAAGAGTTTAAA
ACCTCCGTGTCTCTGGCTGTCTCTAGGCTAAGCAGAATCGTGACGTCTGCATCCACAGATCTCCAGGATTACACTTACTATTTTGTCCCG
GCTCCCTGGCTGTCTGTCAAACTGCTGAGACTGCTGCAGTGCTACCCACCCCCAGACCCTGCAGTGCGAGGCCGCCTGACTGAGTGCCTG
GAGACCATCCTGAACAAAGCCCAAGAACCGCCCAAGTCGAAGAAGGTCCAGCACTCCAACGCGAAGAATGCCGTGCTCTTCGAGGCCATC
AGCTTAATCATTCACCATGACAGTGAGCCGAACCTGCTCGTCCGTGCCTGCAACCAGTTGGGCCAGTTTCTGCAGCACCGCGAGACCAAC
CTGCGCTACCTGGCCCTGGAGAGCATGTGCACGCTGGCCAGCTCTGAGTTCTCCCATGAGGCTGTCAAGACGCACATCGAGACGGTCATC
AACGCCCTGAAGACTGAGCGGGACGTGAGCGTGCGGCAGCGGGCCGTGGACCTCCTCTACGCCATGTGCGACCGCAGCAACGCCCCACAG
ATCGTGGCCGAGATGCTGAGCTATCTGGAGACAGCTGACTACTCCATCCGAGAAGAGATTGTGCTGAAGGTCGCCATCCTGGCTGAGAAG
TACGCGGTGGACTACACCTGGTATGTGGATACCATCTTGAACTTGATCCGAATTGCTGGTGATTACGTGAGTGAAGAGGTGTGGTACCGA
GTCATTCAGATCGTCATCAACCGGGACGACGTGCAGGGCTACGCGGCCAAGACTGTGTTCGAGGCTCTTCAGGCTCCCGCGTGCCACGAG
AACCTGGTCAAAGTGGGCGGCTACATCCTGGGGGAGTTTGGAAACTTGATAGCTGGAGACCCGAGATCCAGCCCGCTGATCCAGTTCCAC
CTGCTGCACTCCAAGTTCCACCTGTGCAGCGTCCCCACCCGCGCGCTGCTCCTGTCCACCTACATCAAGTTCGTGAACCTCTTCCCGGAG
GTGAAGCCCACCATCCAGGACGTGCTGCGCAGCGACAGCCAGCTCAGGAACGCAGACGTGGAGCTGCAGCAGCGTGCTGTGGAGTACCTG
CGGCTCAGCACCGTGGCCAGCACCGACATTCTGGCGACCGTGCTGGAGGAGATGCCCCCATTCCCGGAGCGGGAGTCCTCCATCTTGGCA
AAGCTCAAGAAGAAGAAGGGCCCCAGCACGGTGACAGACCTGGAGGACACCAAGCGGGACAGGAGTGTGGACGTGAACGGGGGTCCTGAG
CCTGCCCCAGCCAGTACCAGCGCCGTGCACCTGGCCACATTCATCATGGACAAGAGCGAAGCCATCACGTCTGTGGACGACGCCATCCGG
AAGCTGGTGCAGCTGAGCTCCAAGGAGAAGATCTGGACCCAGGAGATGCTGCTGCAGGTGAACGACCAGTCGCTGCGGCTGCTGGACATC
GAGTCACAGAGTGCCCAGACCCCGGGTGCGAGTCGTGTCCGCGCGATGTACCCGCAGGAGGAGCTGGAAGACTTCCCGCTGCCCACGGTG
CAGCGCAGCCAGACGGTCCTCAACCAGCTGCGCTACCCGTCTGTGCTGCTGCTCGTGTGCCAGGACTCGGAGCAGAGCAAGCCGGATGTC
CACTTCTTCCACTGCGATGAGGTGGAGGCAGAGCTGGTGCACGAGGACATCGAGAGCGCGTTGGCCGACTGCCGGCTGGGCAAGAAGATG
CGGCCGCAGACCCTGAAGGGACACCAGGAGAAGATTCGGCAGCGGCAGTCCATCCTGCCTCCTCCCCAGGGCCCGGCGCCCATCCCCTTC
CAGCACCGCGGCGGGGATTCCCCGGAGGCCAAGAATCGCGTGGGCCCGCAGGTGCCACTCAGCGAGCCAGGTTTCCGCCGTCGGGAGTCG
CAGGAGGAGCCGCGGGCCGTGCTGGCTCAGAAGATAGAGAAGGAGACGCAAATCCTCAACTGCGCCCTGGACGACATCGAGTGGTTTGTG
GCCCGGCTGCAGAAGGCAGCCGAGGCTTTCAAGCAGCTGAACCAGCGGAAAAAGGGGAAGAAGAAGGGCAAGAAGGCGCCAGCAGAGGGC
GTCCTCACACTGCGGGCACGGCCCCCCTCTGAGGGCGAGTTCATCGACTGCTTCCAGAAAATCAAGCTGGCGATTAACTTGCTGGCAAAG
CTGCAGAAGCACATCCAGAACCCCAGCGCCGCGGAGCTCGTGCACTTCCTCTTCGGGCCTCTGGACCTGATCGTCAACACCTGCAGTGGC
CCAGACATCGCACGCTCCGTCTCCTGCCCACTGCTCTCCCGAGATGCCGTGGACTTCCTGCGCGGCCACCTGGTCCCTAAGGAGATGTCG
CTGTGGGAGTCACTGGGAGAGAGCTGGATGCGGCCCCGTTCCGAGTGGCCGCGGGAGCCACAGGTGCCCCTCTACGTGCCCAAGTTCCAC
AGCGGCTGGGAGCCTCCTGTGGATGTGCTGCAGGAGGCCCCCTGGGAGGTGGAGGGGCTGGCGTCTGCCCCCATCGAGGAGGTGAGTCCA
GTGAGCCGACAGTCCATAAGAAACTCCCAGAAGCACAGCCCCACTTCAGAGCCCACCCCCCCGGGGGATGCCCTACCACCAGTCAGCTCC
CCACATACTCACAGGGGCTACCAGCCAACACCAGCCATGGCCAAGTACGTCAAGATCCTGTATGACTTCACAGCCCGAAATGCCAACGAG
CTATCGGTGCTCAAGGATGAGGTCCTAGAGGTGCTGGAGGACGGCCGGCAGTGGTGGAAGCTGCGCAGCCGCAGCGGCCAGGCGGGGTAC
GTGCCCTGCAACATCCTAGGCGAGGCGCGACCGGAGGACGCCGGCGCCCCGTTCGAGCAGGCCGGTCAGAAGTACTGGGGCCCCGCCAGC
CCGACCCACAAGCTACCCCCAAGCTTCCCGGGGAACAAAGACGAGCTCATGCAGCACATGGACGAGGTCAACGACGAGCTCATCCGGAAA
ATCAGCAACATCAGGGCGCAGCCACAGAGGCACTTCCGCGTGGAGCGCAGCCAGCCCGTGAGCCAGCCGCTCACCTACGAGTCGGGTCCG
GACGAGGTCCGCGCCTGGCTGGAAGCCAAGGCCTTCAGCCCGCGGATCGTGGAGAACCTGGGCATCCTGACCGGGCCGCAGCTCTTCTCC
CTCAACAAGGAGGAGCTGAAGAAAGTGTGCGGCGAGGAGGGCGTCCGCGTGTACAGCCAGCTCACCATGCAGAAGGCCTTCCTGGAGAAG
CAGCAAAGTGGGTCGGAGCTGGAAGAACTCATGAACAAGTTTCATTCCATGAATCAGAGGAGGGGGGAGGACAGCTAGGCCCAGCTGCCT

>5226_5226_6_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000448903_EPS8L2_chr11_720062_ENST00000526198_length(amino acids)=1328AA_BP=645
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFGHMEAVNLLSSNRYTE
KQIGYLFISVLVNSNSELIRLINNAIKNDLASRNPTFMGLALHCIASVGSREMAEAFAGEIPKVLVAGDTMDSVKQSAALCLLRLYRTSP
DLVPMGDWTSRVVHLLNDQHLGVVTAATSLITTLAQKNPEEFKTSVSLAVSRLSRIVTSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPP
PDPAVRGRLTECLETILNKAQEPPKSKKVQHSNAKNAVLFEAISLIIHHDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSEF
SHEAVKTHIETVINALKTERDVSVRQRAVDLLYAMCDRSNAPQIVAEMLSYLETADYSIREEIVLKVAILAEKYAVDYTWYVDTILNLIR
IAGDYVSEEVWYRVIQIVINRDDVQGYAAKTVFEALQAPACHENLVKVGGYILGEFGNLIAGDPRSSPLIQFHLLHSKFHLCSVPTRALL
LSTYIKFVNLFPEVKPTIQDVLRSDSQLRNADVELQQRAVEYLRLSTVASTDILATVLEEMPPFPERESSILAKLKKKKGPSTVTDLEDT
KRDRSVDVNGGPEPAPASTSAVHLATFIMDKSEAITSVDDAIRKLVQLSSKEKIWTQEMLLQVNDQSLRLLDIESQSAQTPGASRVRAMY
PQEELEDFPLPTVQRSQTVLNQLRYPSVLLLVCQDSEQSKPDVHFFHCDEVEAELVHEDIESALADCRLGKKMRPQTLKGHQEKIRQRQS
ILPPPQGPAPIPFQHRGGDSPEAKNRVGPQVPLSEPGFRRRESQEEPRAVLAQKIEKETQILNCALDDIEWFVARLQKAAEAFKQLNQRK
KGKKKGKKAPAEGVLTLRARPPSEGEFIDCFQKIKLAINLLAKLQKHIQNPSAAELVHFLFGPLDLIVNTCSGPDIARSVSCPLLSRDAV
DFLRGHLVPKEMSLWESLGESWMRPRSEWPREPQVPLYVPKFHSGWEPPVDVLQEAPWEVEGLASAPIEEVSPVSRQSIRNSQKHSPTSE
PTPPGDALPPVSSPHTHRGYQPTPAMAKYVKILYDFTARNANELSVLKDEVLEVLEDGRQWWKLRSRSGQAGYVPCNILGEARPEDAGAP
FEQAGQKYWGPASPTHKLPPSFPGNKDELMQHMDEVNDELIRKISNIRAQPQRHFRVERSQPVSQPLTYESGPDEVRAWLEAKAFSPRIV

--------------------------------------------------------------
>5226_5226_7_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000448903_EPS8L2_chr11_720062_ENST00000530636_length(transcript)=4150nt_BP=2097nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGGTGACAAGGCTCTTGATGGCTATAGTAAAAAAAAGTACGTCTGCAAGTTGCTCTTCATCTTTCTCCTTGGTCATGACATTGAC
TTTGGACACATGGAGGCTGTGAACCTGCTGAGTTCAAACAGATACACGGAAAAGCAGATCGGCTACCTTTTCATCTCTGTGTTGGTGAAC
TCAAACAGTGAGCTGATCCGCCTGATCAACAACGCCATCAAGAATGACCTGGCCAGCCGCAACCCCACCTTCATGGGCCTGGCCCTGCAC
TGCATCGCCAGCGTGGGCAGCCGGGAGATGGCCGAGGCCTTCGCCGGGGAGATCCCTAAGGTCCTCGTAGCCGGAGACACTATGGACAGC
GTGAAGCAGAGCGCGGCCCTGTGCTTGCTGCGCCTGTACAGGACGTCCCCCGATCTTGTCCCCATGGGCGACTGGACATCCCGAGTGGTG
CACCTGCTCAATGACCAGCACTTGGGTGTGGTAACTGCAGCCACAAGTCTGATCACCACTTTAGCACAGAAGAACCCAGAAGAGTTTAAA
ACCTCCGTGTCTCTGGCTGTCTCTAGGCTAAGCAGAATCGTGACGTCTGCATCCACAGATCTCCAGGATTACACTTACTATTTTGTCCCG
GCTCCCTGGCTGTCTGTCAAACTGCTGAGACTGCTGCAGTGCTACCCACCCCCAGACCCTGCAGTGCGAGGCCGCCTGACTGAGTGCCTG
GAGACCATCCTGAACAAAGCCCAAGAACCGCCCAAGTCGAAGAAGGTCCAGCACTCCAACGCGAAGAATGCCGTGCTCTTCGAGGCCATC
AGCTTAATCATTCACCATGACAGTGAGCCGAACCTGCTCGTCCGTGCCTGCAACCAGTTGGGCCAGTTTCTGCAGCACCGCGAGACCAAC
CTGCGCTACCTGGCCCTGGAGAGCATGTGCACGCTGGCCAGCTCTGAGTTCTCCCATGAGGCTGTCAAGACGCACATCGAGACGGTCATC
AACGCCCTGAAGACTGAGCGGGACGTGAGCGTGCGGCAGCGGGCCGTGGACCTCCTCTACGCCATGTGCGACCGCAGCAACGCCCCACAG
ATCGTGGCCGAGATGCTGAGCTATCTGGAGACAGCTGACTACTCCATCCGAGAAGAGATTGTGCTGAAGGTCGCCATCCTGGCTGAGAAG
TACGCGGTGGACTACACCTGGTATGTGGATACCATCTTGAACTTGATCCGAATTGCTGGTGATTACGTGAGTGAAGAGGTGTGGTACCGA
GTCATTCAGATCGTCATCAACCGGGACGACGTGCAGGGCTACGCGGCCAAGACTGTGTTCGAGGCTCTTCAGGCTCCCGCGTGCCACGAG
AACCTGGTCAAAGTGGGCGGCTACATCCTGGGGGAGTTTGGAAACTTGATAGCTGGAGACCCGAGATCCAGCCCGCTGATCCAGTTCCAC
CTGCTGCACTCCAAGTTCCACCTGTGCAGCGTCCCCACCCGCGCGCTGCTCCTGTCCACCTACATCAAGTTCGTGAACCTCTTCCCGGAG
GTGAAGCCCACCATCCAGGACGTGCTGCGCAGCGACAGCCAGCTCAGGAACGCAGACGTGGAGCTGCAGCAGCGTGCTGTGGAGTACCTG
CGGCTCAGCACCGTGGCCAGCACCGACATTCTGGCGACCGTGCTGGAGGAGATGCCCCCATTCCCGGAGCGGGAGTCCTCCATCTTGGCA
AAGCTCAAGAAGAAGAAGGGCCCCAGCACGGTGACAGACCTGGAGGACACCAAGCGGGACAGGAGTGTGGACGTGAACGGGGGTCCTGAG
CCTGCCCCAGCCAGTACCAGCGCCGTGCACCTGGCCACATTCATCATGGACAAGAGCGAAGCCATCACGTCTGTGGACGACGCCATCCGG
AAGCTGGTGCAGCTGAGCTCCAAGGAGAAGATCTGGACCCAGGAGATGCTGCTGCAGGTGAACGACCAGTCGCTGCGGCTGCTGGACATC
GAGTCACAGGAGGAGCTGGAAGACTTCCCGCTGCCCACGGTGCAGCGCAGCCAGACGGTCCTCAACCAGCTGCGCTACCCGTCTGTGCTG
CTGCTCGTGTGCCAGGACTCGGAGCAGAGCAAGCCGGATGTCCACTTCTTCCACTGCGATGAGGTGGAGGCAGAGCTGGTGCACGAGGAC
ATCGAGAGCGCGTTGGCCGACTGCCGGCTGGGCAAGAAGATGCGGCCGCAGACCCTGAAGGGACACCAGGAGAAGATTCGGCAGCGGCAG
TCCATCCTGCCTCCTCCCCAGGGCCCGGCGCCCATCCCCTTCCAGCACCGCGGCGGGGATTCCCCGGAGGCCAAGAATCGCGTGGGCCCG
CAGGTGCCACTCAGCGAGCCAGGTTTCCGCCGTCGGGAGTCGCAGGAGGAGCCGCGGGCCGTGCTGGCTCAGAAGATAGAGAAGGAGACG
CAAATCCTCAACTGCGCCCTGGACGACATCGAGTGGTTTGTGGCCCGGCTGCAGAAGGCAGCCGAGGCTTTCAAGCAGCTGAACCAGCGG
AAAAAGGGGAAGAAGAAGGGCAAGAAGGCGCCAGCAGAGGGCGTCCTCACACTGCGGGCACGGCCCCCCTCTGAGGGCGAGTTCATCGAC
TGCTTCCAGAAAATCAAGCTGGCGATTAACTTGCTGGCAAAGCTGCAGAAGCACATCCAGAACCCCAGCGCCGCGGAGCTCGTGCACTTC
CTCTTCGGGCCTCTGGACCTGATCGTCAACACCTGCAGTGGCCCAGACATCGCACGCTCCGTCTCCTGCCCACTGCTCTCCCGAGATGCC
GTGGACTTCCTGCGCGGCCACCTGGTCCCTAAGGAGATGTCGCTGTGGGAGTCACTGGGAGAGAGCTGGATGCGGCCCCGTTCCGAGTGG
CCGCGGGAGCCACAGGTGCCCCTCTACGTGCCCAAGTTCCACAGCGGCTGGGAGCCTCCTGTGGATGTGCTGCAGGAGGCCCCCTGGGAG
GTGGAGGGGCTGGCGTCTGCCCCCATCGAGGAGGTGAGTCCAGTGAGCCGACAGTCCATAAGAAACTCCCAGAAGCACAGCCCCACTTCA
GAGCCCACCCCCCCGGGGGATGCCCTACCACCAGTCAGCTCCCCACATACTCACAGGGGCTACCAGCCAACACCAGCCATGGCCAAGTAC
GTCAAGATCCTGTATGACTTCACAGCCCGAAATGCCAACGAGCTATCGGTGCTCAAGGATGAGGTCCTAGAGGTGCTGGAGGACGGCCGG
CAGTGGTGGAAGCTGCGCAGCCGCAGCGGCCAGGCGGGGTACGTGCCCTGCAACATCCTAGGCGAGGCGCGACCGGAGGACGCCGGCGCC
CCGTTCGAGCAGGCCGGTCAGAAGTACTGGGGCCCCGCCAGCCCGACCCACAAGCTACCCCCAAGCTTCCCGGGGAACAAAGACGAGCTC
ATGCAGCACATGGACGAGGTCAACGACGAGCTCATCCGGAAAATCAGCAACATCAGGGCGCAGCCACAGAGGCACTTCCGCGTGGAGCGC
AGCCAGCCCGTGAGCCAGCCGCTCACCTACGAGTCGGGTCCGGACGAGGTCCGCGCCTGGCTGGAAGCCAAGGCCTTCAGCCCGCGGATC
GTGGAGAACCTGGGCATCCTGACCGGGCCGCAGCTCTTCTCCCTCAACAAGGAGGAGCTGAAGAAAGTGTGCGGCGAGGAGGGCGTCCGC
GTGTACAGCCAGCTCACCATGCAGAAGGCCTTCCTGGAGAAGCAGCAAAGTGGGTCGGAGCTGGAAGAACTCATGAACAAGTTTCATTCC
ATGAATCAGAGGAGGGGGGAGGACAGCTAGGCCCAGCTGCCTTGGGCTGGGGCCTGCGGAGGGGAAGCCCACCCACAATGCATGGAGTAT

>5226_5226_7_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000448903_EPS8L2_chr11_720062_ENST00000530636_length(amino acids)=1312AA_BP=645
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFGHMEAVNLLSSNRYTE
KQIGYLFISVLVNSNSELIRLINNAIKNDLASRNPTFMGLALHCIASVGSREMAEAFAGEIPKVLVAGDTMDSVKQSAALCLLRLYRTSP
DLVPMGDWTSRVVHLLNDQHLGVVTAATSLITTLAQKNPEEFKTSVSLAVSRLSRIVTSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPP
PDPAVRGRLTECLETILNKAQEPPKSKKVQHSNAKNAVLFEAISLIIHHDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSEF
SHEAVKTHIETVINALKTERDVSVRQRAVDLLYAMCDRSNAPQIVAEMLSYLETADYSIREEIVLKVAILAEKYAVDYTWYVDTILNLIR
IAGDYVSEEVWYRVIQIVINRDDVQGYAAKTVFEALQAPACHENLVKVGGYILGEFGNLIAGDPRSSPLIQFHLLHSKFHLCSVPTRALL
LSTYIKFVNLFPEVKPTIQDVLRSDSQLRNADVELQQRAVEYLRLSTVASTDILATVLEEMPPFPERESSILAKLKKKKGPSTVTDLEDT
KRDRSVDVNGGPEPAPASTSAVHLATFIMDKSEAITSVDDAIRKLVQLSSKEKIWTQEMLLQVNDQSLRLLDIESQEELEDFPLPTVQRS
QTVLNQLRYPSVLLLVCQDSEQSKPDVHFFHCDEVEAELVHEDIESALADCRLGKKMRPQTLKGHQEKIRQRQSILPPPQGPAPIPFQHR
GGDSPEAKNRVGPQVPLSEPGFRRRESQEEPRAVLAQKIEKETQILNCALDDIEWFVARLQKAAEAFKQLNQRKKGKKKGKKAPAEGVLT
LRARPPSEGEFIDCFQKIKLAINLLAKLQKHIQNPSAAELVHFLFGPLDLIVNTCSGPDIARSVSCPLLSRDAVDFLRGHLVPKEMSLWE
SLGESWMRPRSEWPREPQVPLYVPKFHSGWEPPVDVLQEAPWEVEGLASAPIEEVSPVSRQSIRNSQKHSPTSEPTPPGDALPPVSSPHT
HRGYQPTPAMAKYVKILYDFTARNANELSVLKDEVLEVLEDGRQWWKLRSRSGQAGYVPCNILGEARPEDAGAPFEQAGQKYWGPASPTH
KLPPSFPGNKDELMQHMDEVNDELIRKISNIRAQPQRHFRVERSQPVSQPLTYESGPDEVRAWLEAKAFSPRIVENLGILTGPQLFSLNK

--------------------------------------------------------------
>5226_5226_8_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000448903_EPS8L2_chr11_720062_ENST00000533256_length(transcript)=4823nt_BP=2097nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGGTGACAAGGCTCTTGATGGCTATAGTAAAAAAAAGTACGTCTGCAAGTTGCTCTTCATCTTTCTCCTTGGTCATGACATTGAC
TTTGGACACATGGAGGCTGTGAACCTGCTGAGTTCAAACAGATACACGGAAAAGCAGATCGGCTACCTTTTCATCTCTGTGTTGGTGAAC
TCAAACAGTGAGCTGATCCGCCTGATCAACAACGCCATCAAGAATGACCTGGCCAGCCGCAACCCCACCTTCATGGGCCTGGCCCTGCAC
TGCATCGCCAGCGTGGGCAGCCGGGAGATGGCCGAGGCCTTCGCCGGGGAGATCCCTAAGGTCCTCGTAGCCGGAGACACTATGGACAGC
GTGAAGCAGAGCGCGGCCCTGTGCTTGCTGCGCCTGTACAGGACGTCCCCCGATCTTGTCCCCATGGGCGACTGGACATCCCGAGTGGTG
CACCTGCTCAATGACCAGCACTTGGGTGTGGTAACTGCAGCCACAAGTCTGATCACCACTTTAGCACAGAAGAACCCAGAAGAGTTTAAA
ACCTCCGTGTCTCTGGCTGTCTCTAGGCTAAGCAGAATCGTGACGTCTGCATCCACAGATCTCCAGGATTACACTTACTATTTTGTCCCG
GCTCCCTGGCTGTCTGTCAAACTGCTGAGACTGCTGCAGTGCTACCCACCCCCAGACCCTGCAGTGCGAGGCCGCCTGACTGAGTGCCTG
GAGACCATCCTGAACAAAGCCCAAGAACCGCCCAAGTCGAAGAAGGTCCAGCACTCCAACGCGAAGAATGCCGTGCTCTTCGAGGCCATC
AGCTTAATCATTCACCATGACAGTGAGCCGAACCTGCTCGTCCGTGCCTGCAACCAGTTGGGCCAGTTTCTGCAGCACCGCGAGACCAAC
CTGCGCTACCTGGCCCTGGAGAGCATGTGCACGCTGGCCAGCTCTGAGTTCTCCCATGAGGCTGTCAAGACGCACATCGAGACGGTCATC
AACGCCCTGAAGACTGAGCGGGACGTGAGCGTGCGGCAGCGGGCCGTGGACCTCCTCTACGCCATGTGCGACCGCAGCAACGCCCCACAG
ATCGTGGCCGAGATGCTGAGCTATCTGGAGACAGCTGACTACTCCATCCGAGAAGAGATTGTGCTGAAGGTCGCCATCCTGGCTGAGAAG
TACGCGGTGGACTACACCTGGTATGTGGATACCATCTTGAACTTGATCCGAATTGCTGGTGATTACGTGAGTGAAGAGGTGTGGTACCGA
GTCATTCAGATCGTCATCAACCGGGACGACGTGCAGGGCTACGCGGCCAAGACTGTGTTCGAGGCTCTTCAGGCTCCCGCGTGCCACGAG
AACCTGGTCAAAGTGGGCGGCTACATCCTGGGGGAGTTTGGAAACTTGATAGCTGGAGACCCGAGATCCAGCCCGCTGATCCAGTTCCAC
CTGCTGCACTCCAAGTTCCACCTGTGCAGCGTCCCCACCCGCGCGCTGCTCCTGTCCACCTACATCAAGTTCGTGAACCTCTTCCCGGAG
GTGAAGCCCACCATCCAGGACGTGCTGCGCAGCGACAGCCAGCTCAGGAACGCAGACGTGGAGCTGCAGCAGCGTGCTGTGGAGTACCTG
CGGCTCAGCACCGTGGCCAGCACCGACATTCTGGCGACCGTGCTGGAGGAGATGCCCCCATTCCCGGAGCGGGAGTCCTCCATCTTGGCA
AAGCTCAAGAAGAAGAAGGGCCCCAGCACGGTGACAGACCTGGAGGACACCAAGCGGGACAGGAGTGTGGACGTGAACGGGGGTCCTGAG
CCTGCCCCAGCCAGTACCAGCGCCGTGCACCTGGCCACATTCATCATGGACAAGAGCGAAGCCATCACGTCTGTGGACGACGCCATCCGG
AAGCTGGTGCAGCTGAGCTCCAAGGAGAAGATCTGGACCCAGGAGATGCTGCTGCAGGTGAACGACCAGTCGCTGCGGCTGCTGGACATC
GAGTCACAGGAGGAGCTGGAAGACTTCCCGCTGCCCACGGTGCAGCGCAGCCAGACGGTCCTCAACCAGCTGCGCTACCCGTCTGTGCTG
CTGCTCGTGTGCCAGGACTCGGAGCAGAGCAAGCCGGATGTCCACTTCTTCCACTGCGATGAGGTGGAGGCAGAGCTGGTGCACGAGGAC
ATCGAGAGCGCGTTGGCCGACTGCCGGCTGGGCAAGAAGATGCGGCCGCAGACCCTGAAGGGACACCAGGAGAAGATTCGGCAGCGGCAG
TCCATCCTGCCTCCTCCCCAGGGCCCGGCGCCCATCCCCTTCCAGCACCGCGGCGGGGATTCCCCGGAGGCCAAGAATCGCGTGGGCCCG
CAGGTGCCACTCAGCGAGCCAGGTTTCCGCCGTCGGGAGTCGCAGGAGGAGCCGCGGGCCGTGCTGGCTCAGAAGATAGAGAAGGAGACG
CAAATCCTCAACTGCGCCCTGGACGACATCGAGTGGTTTGTGGCCCGGCTGCAGAAGGCAGCCGAGGCTTTCAAGCAGCTGAACCAGCGG
AAAAAGGGGAAGAAGAAGGGCAAGAAGGCGCCAGCAGAGGGCGTCCTCACACTGCGGGCACGGCCCCCCTCTGAGGGCGAGTTCATCGAC
TGCTTCCAGAAAATCAAGCTGGCGATTAACTTGCTGGCAAAGCTGCAGAAGCACATCCAGAACCCCAGCGCCGCGGAGCTCGTGCACTTC
CTCTTCGGGCCTCTGGACCTGATCGTCAACACCTGCAGTGGCCCAGACATCGCACGCTCCGTCTCCTGCCCACTGCTCTCCCGAGATGCC
GTGGACTTCCTGCGCGGCCACCTGGTCCCTAAGGAGATGTCGCTGTGGGAGTCACTGGGAGAGAGCTGGATGCGGCCCCGTTCCGAGTGG
CCGCGGGAGCCACAGGTGCCCCTCTACGTGCCCAAGTTCCACAGCGGCTGGGAGCCTCCTGTGGATGTGCTGCAGGAGGCCCCCTGGGAG
GTGGAGGGGCTGGCGTCTGCCCCCATCGAGGAGGTGAGTCCAGTGAGCCGACAGTCCATAAGAAACTCCCAGAAGCACAGCCCCACTTCA
GAGCCCACCCCCCCGGGGGATGCCCTACCACCAGTCAGCTCCCCACATACTCACAGGGGCTACCAGCCAACACCAGCCATGGCCAAGTAC
GTCAAGATCCTGTATGACTTCACAGCCCGAAATGCCAACGAGCTATCGGTGCTCAAGGATGAGGTCCTAGAGGTGCTGGAGGACGGCCGG
CAGTGGTGGAAGCTGCGCAGCCGCAGCGGCCAGGCGGGGTACGTGCCCTGCAACATCCTAGGCGAGGCGCGACCGGAGGACGCCGGCGCC
CCGTTCGAGCAGGCCGGTCAGAAGTACTGGGGCCCCGCCAGCCCGACCCACAAGCTACCCCCAAGCTTCCCGGGGAACAAAGACGAGCTC
ATGCAGCACATGGACGAGGTCAACGACGAGCTCATCCGGAAAATCAGCAACATCAGGGCGCAGCCACAGAGGCACTTCCGCGTGGAGCGC
AGCCAGCCCGTGAGCCAGCCGCTCACCTACGAGTCGGGTCCGGACGAGGTCCGCGCCTGGCTGGAAGCCAAGGCCTTCAGCCCGCGGATC
GTGGAGAACCTGGGCATCCTGACCGGGCCGCAGCTCTTCTCCCTCAACAAGGAGGAGCTGAAGAAAGTGTGCGGCGAGGAGGGCGTCCGC
GTGTACAGCCAGCTCACCATGCAGAAGGCCTTCCTGGAGAAGCAGCAAAGTGGGTCGGAGCTGGAAGAACTCATGAACAAGTTTCATTCC
ATGAATCAGAGGAGGGGGGAGGACAGCTAGGCCCAGCTGCCTTGGGCTGGGGCCTGCGGAGGGGAAGCCCACCCACAATGCATGGAGTAT
TATTTTTATATGTGTATGTATTTTGTATCAAGGACACGGAGGGGGTGTGGTGCTGGCTAGAGGTCCCTGCCCCTGTCTGGAGGCACAACG
CCCATCCTTAGGCCAAACAGTACCCAAGGCCTCAGCCCACACCAAGACTAATCTCAGCCAAACCTGCTGCTTGGTGGTGCCAGCCCCTTG
TCCACCTTCTCTTGAGGCCACAGAACTCCCTGGGGCTGGGGCCTCTTTCTCTGGCCTCCCCTGTGCACCTGGGGGGTCCTGGCCCCTGTG
ATGCTCCCCCATCCCCACCCACTTCTACATCCATCCACACCCCAGGGTGAGCTGGAGCTCCAGGCTGGCCAGGCTGAACCTCGCACACAC
GCAGAGTTCTGCTCCCTGAGGGGGGCCCGGGAGGGGCTCCAGCAGGAGGCCGTGGGTGCCATTCGGGGGAAAGTGGGGGAACGACACACA
CTTCACCTGCAAGGGCCGACAACGCAGGGGACACCGTGCCGGCTTCAGACACTCCCAGCGCCCACTCTTACAGGCCCAGGACTGGAGCTT
TCTCTGGCCAAGTTTCAGGCCAATGATCCCCGCATGGTGTTGGGGGTGCTGGTGTGTCTTGGTGCCTGGACTTGAGTCTCACCCTACAGA

>5226_5226_8_AP2A2-EPS8L2_AP2A2_chr11_994245_ENST00000448903_EPS8L2_chr11_720062_ENST00000533256_length(amino acids)=1312AA_BP=645
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFGHMEAVNLLSSNRYTE
KQIGYLFISVLVNSNSELIRLINNAIKNDLASRNPTFMGLALHCIASVGSREMAEAFAGEIPKVLVAGDTMDSVKQSAALCLLRLYRTSP
DLVPMGDWTSRVVHLLNDQHLGVVTAATSLITTLAQKNPEEFKTSVSLAVSRLSRIVTSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPP
PDPAVRGRLTECLETILNKAQEPPKSKKVQHSNAKNAVLFEAISLIIHHDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSEF
SHEAVKTHIETVINALKTERDVSVRQRAVDLLYAMCDRSNAPQIVAEMLSYLETADYSIREEIVLKVAILAEKYAVDYTWYVDTILNLIR
IAGDYVSEEVWYRVIQIVINRDDVQGYAAKTVFEALQAPACHENLVKVGGYILGEFGNLIAGDPRSSPLIQFHLLHSKFHLCSVPTRALL
LSTYIKFVNLFPEVKPTIQDVLRSDSQLRNADVELQQRAVEYLRLSTVASTDILATVLEEMPPFPERESSILAKLKKKKGPSTVTDLEDT
KRDRSVDVNGGPEPAPASTSAVHLATFIMDKSEAITSVDDAIRKLVQLSSKEKIWTQEMLLQVNDQSLRLLDIESQEELEDFPLPTVQRS
QTVLNQLRYPSVLLLVCQDSEQSKPDVHFFHCDEVEAELVHEDIESALADCRLGKKMRPQTLKGHQEKIRQRQSILPPPQGPAPIPFQHR
GGDSPEAKNRVGPQVPLSEPGFRRRESQEEPRAVLAQKIEKETQILNCALDDIEWFVARLQKAAEAFKQLNQRKKGKKKGKKAPAEGVLT
LRARPPSEGEFIDCFQKIKLAINLLAKLQKHIQNPSAAELVHFLFGPLDLIVNTCSGPDIARSVSCPLLSRDAVDFLRGHLVPKEMSLWE
SLGESWMRPRSEWPREPQVPLYVPKFHSGWEPPVDVLQEAPWEVEGLASAPIEEVSPVSRQSIRNSQKHSPTSEPTPPGDALPPVSSPHT
HRGYQPTPAMAKYVKILYDFTARNANELSVLKDEVLEVLEDGRQWWKLRSRSGQAGYVPCNILGEARPEDAGAPFEQAGQKYWGPASPTH
KLPPSFPGNKDELMQHMDEVNDELIRKISNIRAQPQRHFRVERSQPVSQPLTYESGPDEVRAWLEAKAFSPRIVENLGILTGPQLFSLNK

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

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Fusion Gene PPI Analysis for AP2A2-EPS8L2


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


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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 AP2A2-EPS8L2


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 AP2A2-EPS8L2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC3711374Nonsyndromic Deafness3CLINGEN
TgeneC4539954DEAFNESS, AUTOSOMAL RECESSIVE 1061GENOMICS_ENGLAND