FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:AP2A2-VPS26A (FusionGDB2 ID:5237)

Fusion Gene Summary for AP2A2-VPS26A

check button Fusion gene summary
Fusion gene informationFusion gene name: AP2A2-VPS26A
Fusion gene ID: 5237
HgeneTgene
Gene symbol

AP2A2

VPS26A

Gene ID

161

9559

Gene nameadaptor related protein complex 2 subunit alpha 2VPS26, retromer complex component A
SynonymsADTAB|CLAPA2|HIP-9|HIP9|HYPJHB58|Hbeta58|PEP8A|VPS26
Cytomap

11p15.5

10q22.1

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 asvacuolar protein sorting-associated protein 26AVPS26 retromer complex comonent Avacuolar protein sorting 26 homolog Avesicle protein sorting 26A
Modification date2020031320200313
UniProtAcc

O94973

.
Ensembl transtripts involved in fusion geneENST00000332231, ENST00000448903, 
ENST00000534328, ENST00000525891, 
ENST00000490696, ENST00000489794, 
ENST00000541711, ENST00000263559, 
ENST00000373382, ENST00000395098, 
ENST00000546041, 
Fusion gene scores* DoF score13 X 10 X 12=156011 X 9 X 6=594
# samples 2213
** MAII scorelog2(22/1560*10)=-2.82597060022495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/594*10)=-2.19195130777231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AP2A2 [Title/Abstract] AND VPS26A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAP2A2(959505)-VPS26A(70915568), # samples:2
AP2A2(959505)-VPS26A(70916763), # samples:2
Anticipated loss of major functional domain due to fusion event.AP2A2-VPS26A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AP2A2-VPS26A seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

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


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 VPS26A (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
ChimerDB4UCECTCGA-B5-A0JN-01AAP2A2chr11

959505

+VPS26Achr10

70915568

+
ChimerDB4UCECTCGA-B5-A0JN-01AAP2A2chr11

959505

-VPS26Achr10

70916763

+
ChimerDB4UCECTCGA-B5-A0JN-01AAP2A2chr11

959505

+VPS26Achr10

70916763

+


Top

Fusion Gene ORF analysis for AP2A2-VPS26A

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-3UTRENST00000332231ENST00000490696AP2A2chr11

959505

+VPS26Achr10

70916763

+
5CDS-3UTRENST00000448903ENST00000490696AP2A2chr11

959505

+VPS26Achr10

70916763

+
5CDS-3UTRENST00000534328ENST00000490696AP2A2chr11

959505

+VPS26Achr10

70916763

+
5CDS-5UTRENST00000332231ENST00000489794AP2A2chr11

959505

+VPS26Achr10

70916763

+
5CDS-5UTRENST00000332231ENST00000541711AP2A2chr11

959505

+VPS26Achr10

70916763

+
5CDS-5UTRENST00000448903ENST00000489794AP2A2chr11

959505

+VPS26Achr10

70916763

+
5CDS-5UTRENST00000448903ENST00000541711AP2A2chr11

959505

+VPS26Achr10

70916763

+
5CDS-5UTRENST00000534328ENST00000489794AP2A2chr11

959505

+VPS26Achr10

70916763

+
5CDS-5UTRENST00000534328ENST00000541711AP2A2chr11

959505

+VPS26Achr10

70916763

+
5CDS-intronENST00000332231ENST00000489794AP2A2chr11

959505

+VPS26Achr10

70915568

+
5CDS-intronENST00000332231ENST00000490696AP2A2chr11

959505

+VPS26Achr10

70915568

+
5CDS-intronENST00000332231ENST00000541711AP2A2chr11

959505

+VPS26Achr10

70915568

+
5CDS-intronENST00000448903ENST00000489794AP2A2chr11

959505

+VPS26Achr10

70915568

+
5CDS-intronENST00000448903ENST00000490696AP2A2chr11

959505

+VPS26Achr10

70915568

+
5CDS-intronENST00000448903ENST00000541711AP2A2chr11

959505

+VPS26Achr10

70915568

+
5CDS-intronENST00000534328ENST00000489794AP2A2chr11

959505

+VPS26Achr10

70915568

+
5CDS-intronENST00000534328ENST00000490696AP2A2chr11

959505

+VPS26Achr10

70915568

+
5CDS-intronENST00000534328ENST00000541711AP2A2chr11

959505

+VPS26Achr10

70915568

+
Frame-shiftENST00000332231ENST00000263559AP2A2chr11

959505

+VPS26Achr10

70915568

+
Frame-shiftENST00000332231ENST00000373382AP2A2chr11

959505

+VPS26Achr10

70915568

+
Frame-shiftENST00000332231ENST00000395098AP2A2chr11

959505

+VPS26Achr10

70915568

+
Frame-shiftENST00000332231ENST00000546041AP2A2chr11

959505

+VPS26Achr10

70915568

+
Frame-shiftENST00000448903ENST00000263559AP2A2chr11

959505

+VPS26Achr10

70915568

+
Frame-shiftENST00000448903ENST00000373382AP2A2chr11

959505

+VPS26Achr10

70915568

+
Frame-shiftENST00000448903ENST00000395098AP2A2chr11

959505

+VPS26Achr10

70915568

+
Frame-shiftENST00000448903ENST00000546041AP2A2chr11

959505

+VPS26Achr10

70915568

+
Frame-shiftENST00000534328ENST00000263559AP2A2chr11

959505

+VPS26Achr10

70915568

+
Frame-shiftENST00000534328ENST00000373382AP2A2chr11

959505

+VPS26Achr10

70915568

+
Frame-shiftENST00000534328ENST00000395098AP2A2chr11

959505

+VPS26Achr10

70915568

+
Frame-shiftENST00000534328ENST00000546041AP2A2chr11

959505

+VPS26Achr10

70915568

+
In-frameENST00000332231ENST00000263559AP2A2chr11

959505

+VPS26Achr10

70916763

+
In-frameENST00000332231ENST00000373382AP2A2chr11

959505

+VPS26Achr10

70916763

+
In-frameENST00000332231ENST00000395098AP2A2chr11

959505

+VPS26Achr10

70916763

+
In-frameENST00000332231ENST00000546041AP2A2chr11

959505

+VPS26Achr10

70916763

+
In-frameENST00000448903ENST00000263559AP2A2chr11

959505

+VPS26Achr10

70916763

+
In-frameENST00000448903ENST00000373382AP2A2chr11

959505

+VPS26Achr10

70916763

+
In-frameENST00000448903ENST00000395098AP2A2chr11

959505

+VPS26Achr10

70916763

+
In-frameENST00000448903ENST00000546041AP2A2chr11

959505

+VPS26Achr10

70916763

+
In-frameENST00000534328ENST00000263559AP2A2chr11

959505

+VPS26Achr10

70916763

+
In-frameENST00000534328ENST00000373382AP2A2chr11

959505

+VPS26Achr10

70916763

+
In-frameENST00000534328ENST00000395098AP2A2chr11

959505

+VPS26Achr10

70916763

+
In-frameENST00000534328ENST00000546041AP2A2chr11

959505

+VPS26Achr10

70916763

+
intron-3CDSENST00000525891ENST00000263559AP2A2chr11

959505

+VPS26Achr10

70915568

+
intron-3CDSENST00000525891ENST00000263559AP2A2chr11

959505

+VPS26Achr10

70916763

+
intron-3CDSENST00000525891ENST00000373382AP2A2chr11

959505

+VPS26Achr10

70915568

+
intron-3CDSENST00000525891ENST00000373382AP2A2chr11

959505

+VPS26Achr10

70916763

+
intron-3CDSENST00000525891ENST00000395098AP2A2chr11

959505

+VPS26Achr10

70915568

+
intron-3CDSENST00000525891ENST00000395098AP2A2chr11

959505

+VPS26Achr10

70916763

+
intron-3CDSENST00000525891ENST00000546041AP2A2chr11

959505

+VPS26Achr10

70915568

+
intron-3CDSENST00000525891ENST00000546041AP2A2chr11

959505

+VPS26Achr10

70916763

+
intron-3UTRENST00000525891ENST00000490696AP2A2chr11

959505

+VPS26Achr10

70916763

+
intron-5UTRENST00000525891ENST00000489794AP2A2chr11

959505

+VPS26Achr10

70916763

+
intron-5UTRENST00000525891ENST00000541711AP2A2chr11

959505

+VPS26Achr10

70916763

+
intron-intronENST00000525891ENST00000489794AP2A2chr11

959505

+VPS26Achr10

70915568

+
intron-intronENST00000525891ENST00000490696AP2A2chr11

959505

+VPS26Achr10

70915568

+
intron-intronENST00000525891ENST00000541711AP2A2chr11

959505

+VPS26Achr10

70915568

+

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)
ENST00000534328AP2A2chr11959505+ENST00000373382VPS26Achr1070916763+26252781421032296
ENST00000534328AP2A2chr11959505+ENST00000263559VPS26Achr1070916763+26202781421032296
ENST00000534328AP2A2chr11959505+ENST00000395098VPS26Achr1070916763+2477278142804220
ENST00000534328AP2A2chr11959505+ENST00000546041VPS26Achr1070916763+12892781421032296
ENST00000332231AP2A2chr11959505+ENST00000373382VPS26Achr1070916763+26242771411031296
ENST00000332231AP2A2chr11959505+ENST00000263559VPS26Achr1070916763+26192771411031296
ENST00000332231AP2A2chr11959505+ENST00000395098VPS26Achr1070916763+2476277141803220
ENST00000332231AP2A2chr11959505+ENST00000546041VPS26Achr1070916763+12882771411031296
ENST00000448903AP2A2chr11959505+ENST00000373382VPS26Achr1070916763+26242771411031296
ENST00000448903AP2A2chr11959505+ENST00000263559VPS26Achr1070916763+26192771411031296
ENST00000448903AP2A2chr11959505+ENST00000395098VPS26Achr1070916763+2476277141803220
ENST00000448903AP2A2chr11959505+ENST00000546041VPS26Achr1070916763+12882771411031296

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
ENST00000534328ENST00000373382AP2A2chr11959505+VPS26Achr1070916763+0.0005345710.9994654
ENST00000534328ENST00000263559AP2A2chr11959505+VPS26Achr1070916763+0.0005320790.9994679
ENST00000534328ENST00000395098AP2A2chr11959505+VPS26Achr1070916763+0.0005900470.9994099
ENST00000534328ENST00000546041AP2A2chr11959505+VPS26Achr1070916763+0.0013016530.99869835
ENST00000332231ENST00000373382AP2A2chr11959505+VPS26Achr1070916763+0.0005287720.99947125
ENST00000332231ENST00000263559AP2A2chr11959505+VPS26Achr1070916763+0.0005259940.999474
ENST00000332231ENST00000395098AP2A2chr11959505+VPS26Achr1070916763+0.0006116250.99938834
ENST00000332231ENST00000546041AP2A2chr11959505+VPS26Achr1070916763+0.0012970990.9987029
ENST00000448903ENST00000373382AP2A2chr11959505+VPS26Achr1070916763+0.0005287720.99947125
ENST00000448903ENST00000263559AP2A2chr11959505+VPS26Achr1070916763+0.0005259940.999474
ENST00000448903ENST00000395098AP2A2chr11959505+VPS26Achr1070916763+0.0006116250.99938834
ENST00000448903ENST00000546041AP2A2chr11959505+VPS26Achr1070916763+0.0012970990.9987029

Top

Fusion Genomic Features for AP2A2-VPS26A


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)
AP2A2chr11959505+VPS26Achr1070916762+2.37E-050.9999763
AP2A2chr11959505+VPS26Achr1070915567+1.13E-050.9999887
AP2A2chr11959505+VPS26Achr1070916762+2.37E-050.9999763
AP2A2chr11959505+VPS26Achr1070915567+1.13E-050.9999887

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%

Top

Fusion Protein Features for AP2A2-VPS26A


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/chr11:959505/chr10:70915568)
- 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
AP2A2

O94973

.
FUNCTION: Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). {ECO:0000250, ECO:0000269|PubMed:12960147, ECO:0000269|PubMed:14745134, ECO:0000269|PubMed:15473838, ECO:0000269|PubMed:19033387, ECO:0000269|PubMed:23676497}.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
HgeneAP2A2chr11:959505chr10:70916763ENST00000332231+22211_1245941.0RegionPhosphatidylinositol 3%2C4%2C5-trisphosphate binding
HgeneAP2A2chr11:959505chr10:70916763ENST00000448903+22211_1245940.0RegionPhosphatidylinositol 3%2C4%2C5-trisphosphate binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAP2A2chr11:959505chr10:70916763ENST00000332231+22257_6145941.0RegionPhosphatidylinositol 3%2C4%2C5-trisphosphate binding
HgeneAP2A2chr11:959505chr10:70916763ENST00000332231+2225_8045941.0RegionNote=Lipid-binding
HgeneAP2A2chr11:959505chr10:70916763ENST00000448903+22257_6145940.0RegionPhosphatidylinositol 3%2C4%2C5-trisphosphate binding
HgeneAP2A2chr11:959505chr10:70916763ENST00000448903+2225_8045940.0RegionNote=Lipid-binding


Top

Fusion Gene Sequence for AP2A2-VPS26A


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.
>5237_5237_1_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000332231_VPS26A_chr10_70916763_ENST00000263559_length(transcript)=2619nt_BP=277nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGAACTTTTCAATGACAAGAGTAATACTCATGAATTTGTAAACCTAGTGAAAGAACTAGCCTTACCTGGAGAACTGACTCAGAGC
AGAAGTTATGATTTTGAATTTATGCAAGTTGAAAAGCCATATGAATCTTACATCGGTGCCAATGTCCGCTTGAGGTATTTTCTTAAAGTG
ACAATAGTGAGAAGACTGACAGATTTGGTAAAAGAGTATGATCTTATTGTTCACCAGCTTGCCACCTATCCTGATGTTAACAACTCTATT
AAGATGGAAGTGGGCATTGAAGATTGTCTACATATAGAATTTGAATATAATAAATCAAAGTATCATTTAAAGGATGTGATTGTTGGAAAA
ATTTACTTCTTATTAGTAAGAATAAAAATACAACATATGGAGTTACAGCTGATCAAAAAAGAGATCACAGGAATTGGACCCAGTACCACA
ACAGAAACAGAAACAATCGCCAAATATGAAATAATGGATGGTGCACCAGTAAAAGGTGAATCAATTCCAATAAGGCTATTTTTAGCAGGA
TATGACCCAACTCCAACAATGAGAGATGTGAACAAAAAATTTTCAGTAAGGTACTTTTTGAATTTAGTGCTTGTTGATGAGGAAGACCGG
AGGTACTTCAAACAGCAGGAGATAATTTTATGGAGAAAAGCTCCTGAAAAACTGAGGAAACAGAGAACAAACTTTCACCAGCGATTTGAA
TCTCCAGAATCACAGGCATCTGCCGAACAGCCTGAAATGTGAACTGAACAGGAGAAAAAAAGAAAAGCAAAAAACTCCTGTAACCCTTGA
GATTAAGTTCAGCAGGTTAAAGATGGTTGCAGCTGGAGGGGGCGGAAAAAGGCCAAAACTCCATATATGTTAGTCTTCCTTTATCTTACA
GCGCAGCATTTATTTTATGATATAATGAAATGTTCGTTCATGTATATACATTTTTAAAAGTGCTTTCTTTGAAACACTGGAACTTTGTTA
AGCTGCCTTTTTTTTTTTAACTTCCTACTTTGATGATAAGCACTCAGATATATATCAGCGTAAACATGAAAAATTTTCATGTGAGTAGGC
TGGTATTTGTAATTTTGCTTTCTTTCTGCATAATGTTGATTATAAATCCTCTCTTTTCAGGCTAATGATTACCTCTTATTCTCTACATGC
AAAAAATTAAATATTTTGTGTTCAAATAAAATTAGAAAACCTGAGTGGCCTCTTGTGTCCTGCAGAGATTTAAAACATGGCATCTCAATA
TTTTTGAGAACTACATTTGTTTTTAACATATGTGTTTGAGAAAAGCATATGGAGTGTTTCACCGCAGGCACTTCTGAGTACCATTCCATG
GCTTCCAGAATTTTATCCTCTTTGAGGTCTTCTGTGCTATGAATATTAGATTTCTTTCCCCAAGGGATTATGTGGCAGGTCATTATGGCC
TTCTTTTTTTTGGCCATATTAAGTAACAGTTTTGCTATATTCCAGTAGTACCGTTGTGTGTTTTCTGCAATGTGGAGTTGACTTAGCTTG
GCATTTTAGATTTGTTAAAACTATTTTTTCCATAAATACTTTGAAACATATTTATATATTTCAATTTAAGGAATCTTTTTGCCATGTGTA
TGCAAATATTATTTTCTTCATACATTCATTTTCTTTTCAGGGGAAAATTTTGGGATGGGGGACTCAGGAGGACCTGTGAAGCATGTAGTT
ATCTAGATCTGGGTAATTTCATGTTTATTAAACTCGAACTTTGGCTAGTTAAACTCATATTGAAACTTCATCTAGTCTCTTAATTTTTTA
ACACTAAATTCAAGTCATTTGTTTTAAGTCTCTAAAAAAGAAGATTGCAGTCATCCATTCATATGCATGGGGTCTGATCGCAAATACACT
AAATGTGGAGTGTAGGAACCAAAATGAAACCTGCTGTATGGAAACTACTTTCACTTATGGTTCATTGGTTTTTGTACCAATATTTTTTAT
GCACTTCAGTGCAAGTCTTGTCAGTTAACCTTACTTTATGAGTAAGCTAAATAACCCAAATTACATTTCTTTAAACCTGTTTTACTACTA
TGGCACTTTGATAAAATGGTCAGGAACCAACTTTACTGGCAAAAGGGTCCATGTACCACCATGTGCTGGAGCATCTGTTCTACATGTGGA
TATCTATGAATGGTAATGTTTTCCTTCATGTAAGTGCCTATTCAGAGTTTCAGAATTTTAAAATGCCAAATATTTTCATGGTCATTTGCA
TGTAGTAAGCCAGAAAATATTCAAAGAGATTTTGAAAACCAATTGTATTTAACCAGCCTCAAATTGTGCAACCATGATGTATAATAAAGA

>5237_5237_1_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000332231_VPS26A_chr10_70916763_ENST00000263559_length(amino acids)=296AA_BP=43
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKELFNDKSNTHEFVNLVKELALPGELTQSRSYDFEFMQVEKPYESY
IGANVRLRYFLKVTIVRRLTDLVKEYDLIVHQLATYPDVNNSIKMEVGIEDCLHIEFEYNKSKYHLKDVIVGKIYFLLVRIKIQHMELQL
IKKEITGIGPSTTTETETIAKYEIMDGAPVKGESIPIRLFLAGYDPTPTMRDVNKKFSVRYFLNLVLVDEEDRRYFKQQEIILWRKAPEK

--------------------------------------------------------------
>5237_5237_2_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000332231_VPS26A_chr10_70916763_ENST00000373382_length(transcript)=2624nt_BP=277nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGAACTTTTCAATGACAAGAGTAATACTCATGAATTTGTAAACCTAGTGAAAGAACTAGCCTTACCTGGAGAACTGACTCAGAGC
AGAAGTTATGATTTTGAATTTATGCAAGTTGAAAAGCCATATGAATCTTACATCGGTGCCAATGTCCGCTTGAGGTATTTTCTTAAAGTG
ACAATAGTGAGAAGACTGACAGATTTGGTAAAAGAGTATGATCTTATTGTTCACCAGCTTGCCACCTATCCTGATGTTAACAACTCTATT
AAGATGGAAGTGGGCATTGAAGATTGTCTACATATAGAATTTGAATATAATAAATCAAAGTATCATTTAAAGGATGTGATTGTTGGAAAA
ATTTACTTCTTATTAGTAAGAATAAAAATACAACATATGGAGTTACAGCTGATCAAAAAAGAGATCACAGGAATTGGACCCAGTACCACA
ACAGAAACAGAAACAATCGCCAAATATGAAATAATGGATGGTGCACCAGTAAAAGGTGAATCAATTCCAATAAGGCTATTTTTAGCAGGA
TATGACCCAACTCCAACAATGAGAGATGTGAACAAAAAATTTTCAGTAAGGTACTTTTTGAATTTAGTGCTTGTTGATGAGGAAGACCGG
AGGTACTTCAAACAGCAGGAGATAATTTTATGGAGAAAAGCTCCTGAAAAACTGAGGAAACAGAGAACAAACTTTCACCAGCGATTTGAA
TCTCCAGAATCACAGGCATCTGCCGAACAGCCTGAAATGTGAACTGAACAGGAGAAAAAAAGAAAAGCAAAAAACTCCTGTAACCCTTGA
GATTAAGTTCAGCAGGTTAAAGATGGTTGCAGCTGGAGGGGGCGGAAAAAGGCCAAAACTCCATATATGTTAGTCTTCCTTTATCTTACA
GCGCAGCATTTATTTTATGATATAATGAAATGTTCGTTCATGTATATACATTTTTAAAAGTGCTTTCTTTGAAACACTGGAACTTTGTTA
AGCTGCCTTTTTTTTTTTAACTTCCTACTTTGATGATAAGCACTCAGATATATATCAGCGTAAACATGAAAAATTTTCATGTGAGTAGGC
TGGTATTTGTAATTTTGCTTTCTTTCTGCATAATGTTGATTATAAATCCTCTCTTTTCAGGCTAATGATTACCTCTTATTCTCTACATGC
AAAAAATTAAATATTTTGTGTTCAAATAAAATTAGAAAACCTGAGTGGCCTCTTGTGTCCTGCAGAGATTTAAAACATGGCATCTCAATA
TTTTTGAGAACTACATTTGTTTTTAACATATGTGTTTGAGAAAAGCATATGGAGTGTTTCACCGCAGGCACTTCTGAGTACCATTCCATG
GCTTCCAGAATTTTATCCTCTTTGAGGTCTTCTGTGCTATGAATATTAGATTTCTTTCCCCAAGGGATTATGTGGCAGGTCATTATGGCC
TTCTTTTTTTTGGCCATATTAAGTAACAGTTTTGCTATATTCCAGTAGTACCGTTGTGTGTTTTCTGCAATGTGGAGTTGACTTAGCTTG
GCATTTTAGATTTGTTAAAACTATTTTTTCCATAAATACTTTGAAACATATTTATATATTTCAATTTAAGGAATCTTTTTGCCATGTGTA
TGCAAATATTATTTTCTTCATACATTCATTTTCTTTTCAGGGGAAAATTTTGGGATGGGGGACTCAGGAGGACCTGTGAAGCATGTAGTT
ATCTAGATCTGGGTAATTTCATGTTTATTAAACTCGAACTTTGGCTAGTTAAACTCATATTGAAACTTCATCTAGTCTCTTAATTTTTTA
ACACTAAATTCAAGTCATTTGTTTTAAGTCTCTAAAAAAGAAGATTGCAGTCATCCATTCATATGCATGGGGTCTGATCGCAAATACACT
AAATGTGGAGTGTAGGAACCAAAATGAAACCTGCTGTATGGAAACTACTTTCACTTATGGTTCATTGGTTTTTGTACCAATATTTTTTAT
GCACTTCAGTGCAAGTCTTGTCAGTTAACCTTACTTTATGAGTAAGCTAAATAACCCAAATTACATTTCTTTAAACCTGTTTTACTACTA
TGGCACTTTGATAAAATGGTCAGGAACCAACTTTACTGGCAAAAGGGTCCATGTACCACCATGTGCTGGAGCATCTGTTCTACATGTGGA
TATCTATGAATGGTAATGTTTTCCTTCATGTAAGTGCCTATTCAGAGTTTCAGAATTTTAAAATGCCAAATATTTTCATGGTCATTTGCA
TGTAGTAAGCCAGAAAATATTCAAAGAGATTTTGAAAACCAATTGTATTTAACCAGCCTCAAATTGTGCAACCATGATGTATAATAAAGA

>5237_5237_2_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000332231_VPS26A_chr10_70916763_ENST00000373382_length(amino acids)=296AA_BP=43
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKELFNDKSNTHEFVNLVKELALPGELTQSRSYDFEFMQVEKPYESY
IGANVRLRYFLKVTIVRRLTDLVKEYDLIVHQLATYPDVNNSIKMEVGIEDCLHIEFEYNKSKYHLKDVIVGKIYFLLVRIKIQHMELQL
IKKEITGIGPSTTTETETIAKYEIMDGAPVKGESIPIRLFLAGYDPTPTMRDVNKKFSVRYFLNLVLVDEEDRRYFKQQEIILWRKAPEK

--------------------------------------------------------------
>5237_5237_3_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000332231_VPS26A_chr10_70916763_ENST00000395098_length(transcript)=2476nt_BP=277nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGAACTTTTCAATGACAAGAGTAATACTCATGAATTTGTAAACCTAGTGAAAGAACTAGCCTTACCTGGAGAACTGACTCAGAGC
AGAAGTTATGATTTTGAATTTATGCAAGTTGAAAAGCCATATGAATCTTACATCGGTGCCAATGTCCGCTTGAGGTATTTTCTTAAAGTG
ACAATAGTGAGAAGACTGACAGATTTGGTAAAAGAGTATGATCTTATTGTTCACCAGCTTGCCACCTATCCTGATGTTAACAACTCTATT
AAGATGGAAGTGGGCATTGAAGATTGTCTACATATAGAATTTGAATATAATAAATCAAAGTATCATTTAAAGGATGTGATTGTTGGAAAA
ATTTACTTCTTATTAGTAAGAATAAAAATACAACATATGGAGTTACAGCTGATCAAAAAAGAGATCACAGGAATTGGACCCAGTACCACA
ACAGAAACAGAAACAATCGCCAAATATGAAATAATGGATGGTGCACCAGTAAAAGGAGATAATTTTATGGAGAAAAGCTCCTGAAAAACT
GAGGAAACAGAGAACAAACTTTCACCAGCGATTTGAATCTCCAGAATCACAGGCATCTGCCGAACAGCCTGAAATGTGAACTGAACAGGA
GAAAAAAAGAAAAGCAAAAAACTCCTGTAACCCTTGAGATTAAGTTCAGCAGGTTAAAGATGGTTGCAGCTGGAGGGGGCGGAAAAAGGC
CAAAACTCCATATATGTTAGTCTTCCTTTATCTTACAGCGCAGCATTTATTTTATGATATAATGAAATGTTCGTTCATGTATATACATTT
TTAAAAGTGCTTTCTTTGAAACACTGGAACTTTGTTAAGCTGCCTTTTTTTTTTTAACTTCCTACTTTGATGATAAGCACTCAGATATAT
ATCAGCGTAAACATGAAAAATTTTCATGTGAGTAGGCTGGTATTTGTAATTTTGCTTTCTTTCTGCATAATGTTGATTATAAATCCTCTC
TTTTCAGGCTAATGATTACCTCTTATTCTCTACATGCAAAAAATTAAATATTTTGTGTTCAAATAAAATTAGAAAACCTGAGTGGCCTCT
TGTGTCCTGCAGAGATTTAAAACATGGCATCTCAATATTTTTGAGAACTACATTTGTTTTTAACATATGTGTTTGAGAAAAGCATATGGA
GTGTTTCACCGCAGGCACTTCTGAGTACCATTCCATGGCTTCCAGAATTTTATCCTCTTTGAGGTCTTCTGTGCTATGAATATTAGATTT
CTTTCCCCAAGGGATTATGTGGCAGGTCATTATGGCCTTCTTTTTTTTGGCCATATTAAGTAACAGTTTTGCTATATTCCAGTAGTACCG
TTGTGTGTTTTCTGCAATGTGGAGTTGACTTAGCTTGGCATTTTAGATTTGTTAAAACTATTTTTTCCATAAATACTTTGAAACATATTT
ATATATTTCAATTTAAGGAATCTTTTTGCCATGTGTATGCAAATATTATTTTCTTCATACATTCATTTTCTTTTCAGGGGAAAATTTTGG
GATGGGGGACTCAGGAGGACCTGTGAAGCATGTAGTTATCTAGATCTGGGTAATTTCATGTTTATTAAACTCGAACTTTGGCTAGTTAAA
CTCATATTGAAACTTCATCTAGTCTCTTAATTTTTTAACACTAAATTCAAGTCATTTGTTTTAAGTCTCTAAAAAAGAAGATTGCAGTCA
TCCATTCATATGCATGGGGTCTGATCGCAAATACACTAAATGTGGAGTGTAGGAACCAAAATGAAACCTGCTGTATGGAAACTACTTTCA
CTTATGGTTCATTGGTTTTTGTACCAATATTTTTTATGCACTTCAGTGCAAGTCTTGTCAGTTAACCTTACTTTATGAGTAAGCTAAATA
ACCCAAATTACATTTCTTTAAACCTGTTTTACTACTATGGCACTTTGATAAAATGGTCAGGAACCAACTTTACTGGCAAAAGGGTCCATG
TACCACCATGTGCTGGAGCATCTGTTCTACATGTGGATATCTATGAATGGTAATGTTTTCCTTCATGTAAGTGCCTATTCAGAGTTTCAG
AATTTTAAAATGCCAAATATTTTCATGGTCATTTGCATGTAGTAAGCCAGAAAATATTCAAAGAGATTTTGAAAACCAATTGTATTTAAC

>5237_5237_3_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000332231_VPS26A_chr10_70916763_ENST00000395098_length(amino acids)=220AA_BP=43
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKELFNDKSNTHEFVNLVKELALPGELTQSRSYDFEFMQVEKPYESY
IGANVRLRYFLKVTIVRRLTDLVKEYDLIVHQLATYPDVNNSIKMEVGIEDCLHIEFEYNKSKYHLKDVIVGKIYFLLVRIKIQHMELQL

--------------------------------------------------------------
>5237_5237_4_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000332231_VPS26A_chr10_70916763_ENST00000546041_length(transcript)=1288nt_BP=277nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGAACTTTTCAATGACAAGAGTAATACTCATGAATTTGTAAACCTAGTGAAAGAACTAGCCTTACCTGGAGAACTGACTCAGAGC
AGAAGTTATGATTTTGAATTTATGCAAGTTGAAAAGCCATATGAATCTTACATCGGTGCCAATGTCCGCTTGAGGTATTTTCTTAAAGTG
ACAATAGTGAGAAGACTGACAGATTTGGTAAAAGAGTATGATCTTATTGTTCACCAGCTTGCCACCTATCCTGATGTTAACAACTCTATT
AAGATGGAAGTGGGCATTGAAGATTGTCTACATATAGAATTTGAATATAATAAATCAAAGTATCATTTAAAGGATGTGATTGTTGGAAAA
ATTTACTTCTTATTAGTAAGAATAAAAATACAACATATGGAGTTACAGCTGATCAAAAAAGAGATCACAGGAATTGGACCCAGTACCACA
ACAGAAACAGAAACAATCGCCAAATATGAAATAATGGATGGTGCACCAGTAAAAGGTGAATCAATTCCAATAAGGCTATTTTTAGCAGGA
TATGACCCAACTCCAACAATGAGAGATGTGAACAAAAAATTTTCAGTAAGGTACTTTTTGAATTTAGTGCTTGTTGATGAGGAAGACCGG
AGGTACTTCAAACAGCAGGAGATAATTTTATGGAGAAAAGCTCCTGAAAAACTGAGGAAACAGAGAACAAACTTTCACCAGCGATTTGAA
TCTCCAGAATCACAGGCATCTGCCGAACAGCCTGAAATGTGAACTGAACAGGAGAAAAAAAGAAAAGCAAAAAACTCCTGTAACCCTTGA
GATTAAGTTCAGCAGGTTAAAGATGGTTGCAGCTGGAGGGGGCGGAAAAAGGCCAAAACTCCATATATGTTAGTCTTCCTTTATCTTACA
GCGCAGCATTTATTTTATGATATAATGAAATGTTCGTTCATGTATATACATTTTTAAAAGTGCTTTCTTTGAAACACTGGAACTTTGTTA

>5237_5237_4_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000332231_VPS26A_chr10_70916763_ENST00000546041_length(amino acids)=296AA_BP=43
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKELFNDKSNTHEFVNLVKELALPGELTQSRSYDFEFMQVEKPYESY
IGANVRLRYFLKVTIVRRLTDLVKEYDLIVHQLATYPDVNNSIKMEVGIEDCLHIEFEYNKSKYHLKDVIVGKIYFLLVRIKIQHMELQL
IKKEITGIGPSTTTETETIAKYEIMDGAPVKGESIPIRLFLAGYDPTPTMRDVNKKFSVRYFLNLVLVDEEDRRYFKQQEIILWRKAPEK

--------------------------------------------------------------
>5237_5237_5_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000448903_VPS26A_chr10_70916763_ENST00000263559_length(transcript)=2619nt_BP=277nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGAACTTTTCAATGACAAGAGTAATACTCATGAATTTGTAAACCTAGTGAAAGAACTAGCCTTACCTGGAGAACTGACTCAGAGC
AGAAGTTATGATTTTGAATTTATGCAAGTTGAAAAGCCATATGAATCTTACATCGGTGCCAATGTCCGCTTGAGGTATTTTCTTAAAGTG
ACAATAGTGAGAAGACTGACAGATTTGGTAAAAGAGTATGATCTTATTGTTCACCAGCTTGCCACCTATCCTGATGTTAACAACTCTATT
AAGATGGAAGTGGGCATTGAAGATTGTCTACATATAGAATTTGAATATAATAAATCAAAGTATCATTTAAAGGATGTGATTGTTGGAAAA
ATTTACTTCTTATTAGTAAGAATAAAAATACAACATATGGAGTTACAGCTGATCAAAAAAGAGATCACAGGAATTGGACCCAGTACCACA
ACAGAAACAGAAACAATCGCCAAATATGAAATAATGGATGGTGCACCAGTAAAAGGTGAATCAATTCCAATAAGGCTATTTTTAGCAGGA
TATGACCCAACTCCAACAATGAGAGATGTGAACAAAAAATTTTCAGTAAGGTACTTTTTGAATTTAGTGCTTGTTGATGAGGAAGACCGG
AGGTACTTCAAACAGCAGGAGATAATTTTATGGAGAAAAGCTCCTGAAAAACTGAGGAAACAGAGAACAAACTTTCACCAGCGATTTGAA
TCTCCAGAATCACAGGCATCTGCCGAACAGCCTGAAATGTGAACTGAACAGGAGAAAAAAAGAAAAGCAAAAAACTCCTGTAACCCTTGA
GATTAAGTTCAGCAGGTTAAAGATGGTTGCAGCTGGAGGGGGCGGAAAAAGGCCAAAACTCCATATATGTTAGTCTTCCTTTATCTTACA
GCGCAGCATTTATTTTATGATATAATGAAATGTTCGTTCATGTATATACATTTTTAAAAGTGCTTTCTTTGAAACACTGGAACTTTGTTA
AGCTGCCTTTTTTTTTTTAACTTCCTACTTTGATGATAAGCACTCAGATATATATCAGCGTAAACATGAAAAATTTTCATGTGAGTAGGC
TGGTATTTGTAATTTTGCTTTCTTTCTGCATAATGTTGATTATAAATCCTCTCTTTTCAGGCTAATGATTACCTCTTATTCTCTACATGC
AAAAAATTAAATATTTTGTGTTCAAATAAAATTAGAAAACCTGAGTGGCCTCTTGTGTCCTGCAGAGATTTAAAACATGGCATCTCAATA
TTTTTGAGAACTACATTTGTTTTTAACATATGTGTTTGAGAAAAGCATATGGAGTGTTTCACCGCAGGCACTTCTGAGTACCATTCCATG
GCTTCCAGAATTTTATCCTCTTTGAGGTCTTCTGTGCTATGAATATTAGATTTCTTTCCCCAAGGGATTATGTGGCAGGTCATTATGGCC
TTCTTTTTTTTGGCCATATTAAGTAACAGTTTTGCTATATTCCAGTAGTACCGTTGTGTGTTTTCTGCAATGTGGAGTTGACTTAGCTTG
GCATTTTAGATTTGTTAAAACTATTTTTTCCATAAATACTTTGAAACATATTTATATATTTCAATTTAAGGAATCTTTTTGCCATGTGTA
TGCAAATATTATTTTCTTCATACATTCATTTTCTTTTCAGGGGAAAATTTTGGGATGGGGGACTCAGGAGGACCTGTGAAGCATGTAGTT
ATCTAGATCTGGGTAATTTCATGTTTATTAAACTCGAACTTTGGCTAGTTAAACTCATATTGAAACTTCATCTAGTCTCTTAATTTTTTA
ACACTAAATTCAAGTCATTTGTTTTAAGTCTCTAAAAAAGAAGATTGCAGTCATCCATTCATATGCATGGGGTCTGATCGCAAATACACT
AAATGTGGAGTGTAGGAACCAAAATGAAACCTGCTGTATGGAAACTACTTTCACTTATGGTTCATTGGTTTTTGTACCAATATTTTTTAT
GCACTTCAGTGCAAGTCTTGTCAGTTAACCTTACTTTATGAGTAAGCTAAATAACCCAAATTACATTTCTTTAAACCTGTTTTACTACTA
TGGCACTTTGATAAAATGGTCAGGAACCAACTTTACTGGCAAAAGGGTCCATGTACCACCATGTGCTGGAGCATCTGTTCTACATGTGGA
TATCTATGAATGGTAATGTTTTCCTTCATGTAAGTGCCTATTCAGAGTTTCAGAATTTTAAAATGCCAAATATTTTCATGGTCATTTGCA
TGTAGTAAGCCAGAAAATATTCAAAGAGATTTTGAAAACCAATTGTATTTAACCAGCCTCAAATTGTGCAACCATGATGTATAATAAAGA

>5237_5237_5_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000448903_VPS26A_chr10_70916763_ENST00000263559_length(amino acids)=296AA_BP=43
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKELFNDKSNTHEFVNLVKELALPGELTQSRSYDFEFMQVEKPYESY
IGANVRLRYFLKVTIVRRLTDLVKEYDLIVHQLATYPDVNNSIKMEVGIEDCLHIEFEYNKSKYHLKDVIVGKIYFLLVRIKIQHMELQL
IKKEITGIGPSTTTETETIAKYEIMDGAPVKGESIPIRLFLAGYDPTPTMRDVNKKFSVRYFLNLVLVDEEDRRYFKQQEIILWRKAPEK

--------------------------------------------------------------
>5237_5237_6_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000448903_VPS26A_chr10_70916763_ENST00000373382_length(transcript)=2624nt_BP=277nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGAACTTTTCAATGACAAGAGTAATACTCATGAATTTGTAAACCTAGTGAAAGAACTAGCCTTACCTGGAGAACTGACTCAGAGC
AGAAGTTATGATTTTGAATTTATGCAAGTTGAAAAGCCATATGAATCTTACATCGGTGCCAATGTCCGCTTGAGGTATTTTCTTAAAGTG
ACAATAGTGAGAAGACTGACAGATTTGGTAAAAGAGTATGATCTTATTGTTCACCAGCTTGCCACCTATCCTGATGTTAACAACTCTATT
AAGATGGAAGTGGGCATTGAAGATTGTCTACATATAGAATTTGAATATAATAAATCAAAGTATCATTTAAAGGATGTGATTGTTGGAAAA
ATTTACTTCTTATTAGTAAGAATAAAAATACAACATATGGAGTTACAGCTGATCAAAAAAGAGATCACAGGAATTGGACCCAGTACCACA
ACAGAAACAGAAACAATCGCCAAATATGAAATAATGGATGGTGCACCAGTAAAAGGTGAATCAATTCCAATAAGGCTATTTTTAGCAGGA
TATGACCCAACTCCAACAATGAGAGATGTGAACAAAAAATTTTCAGTAAGGTACTTTTTGAATTTAGTGCTTGTTGATGAGGAAGACCGG
AGGTACTTCAAACAGCAGGAGATAATTTTATGGAGAAAAGCTCCTGAAAAACTGAGGAAACAGAGAACAAACTTTCACCAGCGATTTGAA
TCTCCAGAATCACAGGCATCTGCCGAACAGCCTGAAATGTGAACTGAACAGGAGAAAAAAAGAAAAGCAAAAAACTCCTGTAACCCTTGA
GATTAAGTTCAGCAGGTTAAAGATGGTTGCAGCTGGAGGGGGCGGAAAAAGGCCAAAACTCCATATATGTTAGTCTTCCTTTATCTTACA
GCGCAGCATTTATTTTATGATATAATGAAATGTTCGTTCATGTATATACATTTTTAAAAGTGCTTTCTTTGAAACACTGGAACTTTGTTA
AGCTGCCTTTTTTTTTTTAACTTCCTACTTTGATGATAAGCACTCAGATATATATCAGCGTAAACATGAAAAATTTTCATGTGAGTAGGC
TGGTATTTGTAATTTTGCTTTCTTTCTGCATAATGTTGATTATAAATCCTCTCTTTTCAGGCTAATGATTACCTCTTATTCTCTACATGC
AAAAAATTAAATATTTTGTGTTCAAATAAAATTAGAAAACCTGAGTGGCCTCTTGTGTCCTGCAGAGATTTAAAACATGGCATCTCAATA
TTTTTGAGAACTACATTTGTTTTTAACATATGTGTTTGAGAAAAGCATATGGAGTGTTTCACCGCAGGCACTTCTGAGTACCATTCCATG
GCTTCCAGAATTTTATCCTCTTTGAGGTCTTCTGTGCTATGAATATTAGATTTCTTTCCCCAAGGGATTATGTGGCAGGTCATTATGGCC
TTCTTTTTTTTGGCCATATTAAGTAACAGTTTTGCTATATTCCAGTAGTACCGTTGTGTGTTTTCTGCAATGTGGAGTTGACTTAGCTTG
GCATTTTAGATTTGTTAAAACTATTTTTTCCATAAATACTTTGAAACATATTTATATATTTCAATTTAAGGAATCTTTTTGCCATGTGTA
TGCAAATATTATTTTCTTCATACATTCATTTTCTTTTCAGGGGAAAATTTTGGGATGGGGGACTCAGGAGGACCTGTGAAGCATGTAGTT
ATCTAGATCTGGGTAATTTCATGTTTATTAAACTCGAACTTTGGCTAGTTAAACTCATATTGAAACTTCATCTAGTCTCTTAATTTTTTA
ACACTAAATTCAAGTCATTTGTTTTAAGTCTCTAAAAAAGAAGATTGCAGTCATCCATTCATATGCATGGGGTCTGATCGCAAATACACT
AAATGTGGAGTGTAGGAACCAAAATGAAACCTGCTGTATGGAAACTACTTTCACTTATGGTTCATTGGTTTTTGTACCAATATTTTTTAT
GCACTTCAGTGCAAGTCTTGTCAGTTAACCTTACTTTATGAGTAAGCTAAATAACCCAAATTACATTTCTTTAAACCTGTTTTACTACTA
TGGCACTTTGATAAAATGGTCAGGAACCAACTTTACTGGCAAAAGGGTCCATGTACCACCATGTGCTGGAGCATCTGTTCTACATGTGGA
TATCTATGAATGGTAATGTTTTCCTTCATGTAAGTGCCTATTCAGAGTTTCAGAATTTTAAAATGCCAAATATTTTCATGGTCATTTGCA
TGTAGTAAGCCAGAAAATATTCAAAGAGATTTTGAAAACCAATTGTATTTAACCAGCCTCAAATTGTGCAACCATGATGTATAATAAAGA

>5237_5237_6_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000448903_VPS26A_chr10_70916763_ENST00000373382_length(amino acids)=296AA_BP=43
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKELFNDKSNTHEFVNLVKELALPGELTQSRSYDFEFMQVEKPYESY
IGANVRLRYFLKVTIVRRLTDLVKEYDLIVHQLATYPDVNNSIKMEVGIEDCLHIEFEYNKSKYHLKDVIVGKIYFLLVRIKIQHMELQL
IKKEITGIGPSTTTETETIAKYEIMDGAPVKGESIPIRLFLAGYDPTPTMRDVNKKFSVRYFLNLVLVDEEDRRYFKQQEIILWRKAPEK

--------------------------------------------------------------
>5237_5237_7_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000448903_VPS26A_chr10_70916763_ENST00000395098_length(transcript)=2476nt_BP=277nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGAACTTTTCAATGACAAGAGTAATACTCATGAATTTGTAAACCTAGTGAAAGAACTAGCCTTACCTGGAGAACTGACTCAGAGC
AGAAGTTATGATTTTGAATTTATGCAAGTTGAAAAGCCATATGAATCTTACATCGGTGCCAATGTCCGCTTGAGGTATTTTCTTAAAGTG
ACAATAGTGAGAAGACTGACAGATTTGGTAAAAGAGTATGATCTTATTGTTCACCAGCTTGCCACCTATCCTGATGTTAACAACTCTATT
AAGATGGAAGTGGGCATTGAAGATTGTCTACATATAGAATTTGAATATAATAAATCAAAGTATCATTTAAAGGATGTGATTGTTGGAAAA
ATTTACTTCTTATTAGTAAGAATAAAAATACAACATATGGAGTTACAGCTGATCAAAAAAGAGATCACAGGAATTGGACCCAGTACCACA
ACAGAAACAGAAACAATCGCCAAATATGAAATAATGGATGGTGCACCAGTAAAAGGAGATAATTTTATGGAGAAAAGCTCCTGAAAAACT
GAGGAAACAGAGAACAAACTTTCACCAGCGATTTGAATCTCCAGAATCACAGGCATCTGCCGAACAGCCTGAAATGTGAACTGAACAGGA
GAAAAAAAGAAAAGCAAAAAACTCCTGTAACCCTTGAGATTAAGTTCAGCAGGTTAAAGATGGTTGCAGCTGGAGGGGGCGGAAAAAGGC
CAAAACTCCATATATGTTAGTCTTCCTTTATCTTACAGCGCAGCATTTATTTTATGATATAATGAAATGTTCGTTCATGTATATACATTT
TTAAAAGTGCTTTCTTTGAAACACTGGAACTTTGTTAAGCTGCCTTTTTTTTTTTAACTTCCTACTTTGATGATAAGCACTCAGATATAT
ATCAGCGTAAACATGAAAAATTTTCATGTGAGTAGGCTGGTATTTGTAATTTTGCTTTCTTTCTGCATAATGTTGATTATAAATCCTCTC
TTTTCAGGCTAATGATTACCTCTTATTCTCTACATGCAAAAAATTAAATATTTTGTGTTCAAATAAAATTAGAAAACCTGAGTGGCCTCT
TGTGTCCTGCAGAGATTTAAAACATGGCATCTCAATATTTTTGAGAACTACATTTGTTTTTAACATATGTGTTTGAGAAAAGCATATGGA
GTGTTTCACCGCAGGCACTTCTGAGTACCATTCCATGGCTTCCAGAATTTTATCCTCTTTGAGGTCTTCTGTGCTATGAATATTAGATTT
CTTTCCCCAAGGGATTATGTGGCAGGTCATTATGGCCTTCTTTTTTTTGGCCATATTAAGTAACAGTTTTGCTATATTCCAGTAGTACCG
TTGTGTGTTTTCTGCAATGTGGAGTTGACTTAGCTTGGCATTTTAGATTTGTTAAAACTATTTTTTCCATAAATACTTTGAAACATATTT
ATATATTTCAATTTAAGGAATCTTTTTGCCATGTGTATGCAAATATTATTTTCTTCATACATTCATTTTCTTTTCAGGGGAAAATTTTGG
GATGGGGGACTCAGGAGGACCTGTGAAGCATGTAGTTATCTAGATCTGGGTAATTTCATGTTTATTAAACTCGAACTTTGGCTAGTTAAA
CTCATATTGAAACTTCATCTAGTCTCTTAATTTTTTAACACTAAATTCAAGTCATTTGTTTTAAGTCTCTAAAAAAGAAGATTGCAGTCA
TCCATTCATATGCATGGGGTCTGATCGCAAATACACTAAATGTGGAGTGTAGGAACCAAAATGAAACCTGCTGTATGGAAACTACTTTCA
CTTATGGTTCATTGGTTTTTGTACCAATATTTTTTATGCACTTCAGTGCAAGTCTTGTCAGTTAACCTTACTTTATGAGTAAGCTAAATA
ACCCAAATTACATTTCTTTAAACCTGTTTTACTACTATGGCACTTTGATAAAATGGTCAGGAACCAACTTTACTGGCAAAAGGGTCCATG
TACCACCATGTGCTGGAGCATCTGTTCTACATGTGGATATCTATGAATGGTAATGTTTTCCTTCATGTAAGTGCCTATTCAGAGTTTCAG
AATTTTAAAATGCCAAATATTTTCATGGTCATTTGCATGTAGTAAGCCAGAAAATATTCAAAGAGATTTTGAAAACCAATTGTATTTAAC

>5237_5237_7_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000448903_VPS26A_chr10_70916763_ENST00000395098_length(amino acids)=220AA_BP=43
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKELFNDKSNTHEFVNLVKELALPGELTQSRSYDFEFMQVEKPYESY
IGANVRLRYFLKVTIVRRLTDLVKEYDLIVHQLATYPDVNNSIKMEVGIEDCLHIEFEYNKSKYHLKDVIVGKIYFLLVRIKIQHMELQL

--------------------------------------------------------------
>5237_5237_8_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000448903_VPS26A_chr10_70916763_ENST00000546041_length(transcript)=1288nt_BP=277nt
CTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCCC
GCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCTG
GCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAAA
TTTAAAGAACTTTTCAATGACAAGAGTAATACTCATGAATTTGTAAACCTAGTGAAAGAACTAGCCTTACCTGGAGAACTGACTCAGAGC
AGAAGTTATGATTTTGAATTTATGCAAGTTGAAAAGCCATATGAATCTTACATCGGTGCCAATGTCCGCTTGAGGTATTTTCTTAAAGTG
ACAATAGTGAGAAGACTGACAGATTTGGTAAAAGAGTATGATCTTATTGTTCACCAGCTTGCCACCTATCCTGATGTTAACAACTCTATT
AAGATGGAAGTGGGCATTGAAGATTGTCTACATATAGAATTTGAATATAATAAATCAAAGTATCATTTAAAGGATGTGATTGTTGGAAAA
ATTTACTTCTTATTAGTAAGAATAAAAATACAACATATGGAGTTACAGCTGATCAAAAAAGAGATCACAGGAATTGGACCCAGTACCACA
ACAGAAACAGAAACAATCGCCAAATATGAAATAATGGATGGTGCACCAGTAAAAGGTGAATCAATTCCAATAAGGCTATTTTTAGCAGGA
TATGACCCAACTCCAACAATGAGAGATGTGAACAAAAAATTTTCAGTAAGGTACTTTTTGAATTTAGTGCTTGTTGATGAGGAAGACCGG
AGGTACTTCAAACAGCAGGAGATAATTTTATGGAGAAAAGCTCCTGAAAAACTGAGGAAACAGAGAACAAACTTTCACCAGCGATTTGAA
TCTCCAGAATCACAGGCATCTGCCGAACAGCCTGAAATGTGAACTGAACAGGAGAAAAAAAGAAAAGCAAAAAACTCCTGTAACCCTTGA
GATTAAGTTCAGCAGGTTAAAGATGGTTGCAGCTGGAGGGGGCGGAAAAAGGCCAAAACTCCATATATGTTAGTCTTCCTTTATCTTACA
GCGCAGCATTTATTTTATGATATAATGAAATGTTCGTTCATGTATATACATTTTTAAAAGTGCTTTCTTTGAAACACTGGAACTTTGTTA

>5237_5237_8_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000448903_VPS26A_chr10_70916763_ENST00000546041_length(amino acids)=296AA_BP=43
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKELFNDKSNTHEFVNLVKELALPGELTQSRSYDFEFMQVEKPYESY
IGANVRLRYFLKVTIVRRLTDLVKEYDLIVHQLATYPDVNNSIKMEVGIEDCLHIEFEYNKSKYHLKDVIVGKIYFLLVRIKIQHMELQL
IKKEITGIGPSTTTETETIAKYEIMDGAPVKGESIPIRLFLAGYDPTPTMRDVNKKFSVRYFLNLVLVDEEDRRYFKQQEIILWRKAPEK

--------------------------------------------------------------
>5237_5237_9_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000534328_VPS26A_chr10_70916763_ENST00000263559_length(transcript)=2620nt_BP=278nt
GCTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCC
CGCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCT
GGCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAA
ATTTAAAGAACTTTTCAATGACAAGAGTAATACTCATGAATTTGTAAACCTAGTGAAAGAACTAGCCTTACCTGGAGAACTGACTCAGAG
CAGAAGTTATGATTTTGAATTTATGCAAGTTGAAAAGCCATATGAATCTTACATCGGTGCCAATGTCCGCTTGAGGTATTTTCTTAAAGT
GACAATAGTGAGAAGACTGACAGATTTGGTAAAAGAGTATGATCTTATTGTTCACCAGCTTGCCACCTATCCTGATGTTAACAACTCTAT
TAAGATGGAAGTGGGCATTGAAGATTGTCTACATATAGAATTTGAATATAATAAATCAAAGTATCATTTAAAGGATGTGATTGTTGGAAA
AATTTACTTCTTATTAGTAAGAATAAAAATACAACATATGGAGTTACAGCTGATCAAAAAAGAGATCACAGGAATTGGACCCAGTACCAC
AACAGAAACAGAAACAATCGCCAAATATGAAATAATGGATGGTGCACCAGTAAAAGGTGAATCAATTCCAATAAGGCTATTTTTAGCAGG
ATATGACCCAACTCCAACAATGAGAGATGTGAACAAAAAATTTTCAGTAAGGTACTTTTTGAATTTAGTGCTTGTTGATGAGGAAGACCG
GAGGTACTTCAAACAGCAGGAGATAATTTTATGGAGAAAAGCTCCTGAAAAACTGAGGAAACAGAGAACAAACTTTCACCAGCGATTTGA
ATCTCCAGAATCACAGGCATCTGCCGAACAGCCTGAAATGTGAACTGAACAGGAGAAAAAAAGAAAAGCAAAAAACTCCTGTAACCCTTG
AGATTAAGTTCAGCAGGTTAAAGATGGTTGCAGCTGGAGGGGGCGGAAAAAGGCCAAAACTCCATATATGTTAGTCTTCCTTTATCTTAC
AGCGCAGCATTTATTTTATGATATAATGAAATGTTCGTTCATGTATATACATTTTTAAAAGTGCTTTCTTTGAAACACTGGAACTTTGTT
AAGCTGCCTTTTTTTTTTTAACTTCCTACTTTGATGATAAGCACTCAGATATATATCAGCGTAAACATGAAAAATTTTCATGTGAGTAGG
CTGGTATTTGTAATTTTGCTTTCTTTCTGCATAATGTTGATTATAAATCCTCTCTTTTCAGGCTAATGATTACCTCTTATTCTCTACATG
CAAAAAATTAAATATTTTGTGTTCAAATAAAATTAGAAAACCTGAGTGGCCTCTTGTGTCCTGCAGAGATTTAAAACATGGCATCTCAAT
ATTTTTGAGAACTACATTTGTTTTTAACATATGTGTTTGAGAAAAGCATATGGAGTGTTTCACCGCAGGCACTTCTGAGTACCATTCCAT
GGCTTCCAGAATTTTATCCTCTTTGAGGTCTTCTGTGCTATGAATATTAGATTTCTTTCCCCAAGGGATTATGTGGCAGGTCATTATGGC
CTTCTTTTTTTTGGCCATATTAAGTAACAGTTTTGCTATATTCCAGTAGTACCGTTGTGTGTTTTCTGCAATGTGGAGTTGACTTAGCTT
GGCATTTTAGATTTGTTAAAACTATTTTTTCCATAAATACTTTGAAACATATTTATATATTTCAATTTAAGGAATCTTTTTGCCATGTGT
ATGCAAATATTATTTTCTTCATACATTCATTTTCTTTTCAGGGGAAAATTTTGGGATGGGGGACTCAGGAGGACCTGTGAAGCATGTAGT
TATCTAGATCTGGGTAATTTCATGTTTATTAAACTCGAACTTTGGCTAGTTAAACTCATATTGAAACTTCATCTAGTCTCTTAATTTTTT
AACACTAAATTCAAGTCATTTGTTTTAAGTCTCTAAAAAAGAAGATTGCAGTCATCCATTCATATGCATGGGGTCTGATCGCAAATACAC
TAAATGTGGAGTGTAGGAACCAAAATGAAACCTGCTGTATGGAAACTACTTTCACTTATGGTTCATTGGTTTTTGTACCAATATTTTTTA
TGCACTTCAGTGCAAGTCTTGTCAGTTAACCTTACTTTATGAGTAAGCTAAATAACCCAAATTACATTTCTTTAAACCTGTTTTACTACT
ATGGCACTTTGATAAAATGGTCAGGAACCAACTTTACTGGCAAAAGGGTCCATGTACCACCATGTGCTGGAGCATCTGTTCTACATGTGG
ATATCTATGAATGGTAATGTTTTCCTTCATGTAAGTGCCTATTCAGAGTTTCAGAATTTTAAAATGCCAAATATTTTCATGGTCATTTGC
ATGTAGTAAGCCAGAAAATATTCAAAGAGATTTTGAAAACCAATTGTATTTAACCAGCCTCAAATTGTGCAACCATGATGTATAATAAAG

>5237_5237_9_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000534328_VPS26A_chr10_70916763_ENST00000263559_length(amino acids)=296AA_BP=43
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKELFNDKSNTHEFVNLVKELALPGELTQSRSYDFEFMQVEKPYESY
IGANVRLRYFLKVTIVRRLTDLVKEYDLIVHQLATYPDVNNSIKMEVGIEDCLHIEFEYNKSKYHLKDVIVGKIYFLLVRIKIQHMELQL
IKKEITGIGPSTTTETETIAKYEIMDGAPVKGESIPIRLFLAGYDPTPTMRDVNKKFSVRYFLNLVLVDEEDRRYFKQQEIILWRKAPEK

--------------------------------------------------------------
>5237_5237_10_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000534328_VPS26A_chr10_70916763_ENST00000373382_length(transcript)=2625nt_BP=278nt
GCTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCC
CGCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCT
GGCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAA
ATTTAAAGAACTTTTCAATGACAAGAGTAATACTCATGAATTTGTAAACCTAGTGAAAGAACTAGCCTTACCTGGAGAACTGACTCAGAG
CAGAAGTTATGATTTTGAATTTATGCAAGTTGAAAAGCCATATGAATCTTACATCGGTGCCAATGTCCGCTTGAGGTATTTTCTTAAAGT
GACAATAGTGAGAAGACTGACAGATTTGGTAAAAGAGTATGATCTTATTGTTCACCAGCTTGCCACCTATCCTGATGTTAACAACTCTAT
TAAGATGGAAGTGGGCATTGAAGATTGTCTACATATAGAATTTGAATATAATAAATCAAAGTATCATTTAAAGGATGTGATTGTTGGAAA
AATTTACTTCTTATTAGTAAGAATAAAAATACAACATATGGAGTTACAGCTGATCAAAAAAGAGATCACAGGAATTGGACCCAGTACCAC
AACAGAAACAGAAACAATCGCCAAATATGAAATAATGGATGGTGCACCAGTAAAAGGTGAATCAATTCCAATAAGGCTATTTTTAGCAGG
ATATGACCCAACTCCAACAATGAGAGATGTGAACAAAAAATTTTCAGTAAGGTACTTTTTGAATTTAGTGCTTGTTGATGAGGAAGACCG
GAGGTACTTCAAACAGCAGGAGATAATTTTATGGAGAAAAGCTCCTGAAAAACTGAGGAAACAGAGAACAAACTTTCACCAGCGATTTGA
ATCTCCAGAATCACAGGCATCTGCCGAACAGCCTGAAATGTGAACTGAACAGGAGAAAAAAAGAAAAGCAAAAAACTCCTGTAACCCTTG
AGATTAAGTTCAGCAGGTTAAAGATGGTTGCAGCTGGAGGGGGCGGAAAAAGGCCAAAACTCCATATATGTTAGTCTTCCTTTATCTTAC
AGCGCAGCATTTATTTTATGATATAATGAAATGTTCGTTCATGTATATACATTTTTAAAAGTGCTTTCTTTGAAACACTGGAACTTTGTT
AAGCTGCCTTTTTTTTTTTAACTTCCTACTTTGATGATAAGCACTCAGATATATATCAGCGTAAACATGAAAAATTTTCATGTGAGTAGG
CTGGTATTTGTAATTTTGCTTTCTTTCTGCATAATGTTGATTATAAATCCTCTCTTTTCAGGCTAATGATTACCTCTTATTCTCTACATG
CAAAAAATTAAATATTTTGTGTTCAAATAAAATTAGAAAACCTGAGTGGCCTCTTGTGTCCTGCAGAGATTTAAAACATGGCATCTCAAT
ATTTTTGAGAACTACATTTGTTTTTAACATATGTGTTTGAGAAAAGCATATGGAGTGTTTCACCGCAGGCACTTCTGAGTACCATTCCAT
GGCTTCCAGAATTTTATCCTCTTTGAGGTCTTCTGTGCTATGAATATTAGATTTCTTTCCCCAAGGGATTATGTGGCAGGTCATTATGGC
CTTCTTTTTTTTGGCCATATTAAGTAACAGTTTTGCTATATTCCAGTAGTACCGTTGTGTGTTTTCTGCAATGTGGAGTTGACTTAGCTT
GGCATTTTAGATTTGTTAAAACTATTTTTTCCATAAATACTTTGAAACATATTTATATATTTCAATTTAAGGAATCTTTTTGCCATGTGT
ATGCAAATATTATTTTCTTCATACATTCATTTTCTTTTCAGGGGAAAATTTTGGGATGGGGGACTCAGGAGGACCTGTGAAGCATGTAGT
TATCTAGATCTGGGTAATTTCATGTTTATTAAACTCGAACTTTGGCTAGTTAAACTCATATTGAAACTTCATCTAGTCTCTTAATTTTTT
AACACTAAATTCAAGTCATTTGTTTTAAGTCTCTAAAAAAGAAGATTGCAGTCATCCATTCATATGCATGGGGTCTGATCGCAAATACAC
TAAATGTGGAGTGTAGGAACCAAAATGAAACCTGCTGTATGGAAACTACTTTCACTTATGGTTCATTGGTTTTTGTACCAATATTTTTTA
TGCACTTCAGTGCAAGTCTTGTCAGTTAACCTTACTTTATGAGTAAGCTAAATAACCCAAATTACATTTCTTTAAACCTGTTTTACTACT
ATGGCACTTTGATAAAATGGTCAGGAACCAACTTTACTGGCAAAAGGGTCCATGTACCACCATGTGCTGGAGCATCTGTTCTACATGTGG
ATATCTATGAATGGTAATGTTTTCCTTCATGTAAGTGCCTATTCAGAGTTTCAGAATTTTAAAATGCCAAATATTTTCATGGTCATTTGC
ATGTAGTAAGCCAGAAAATATTCAAAGAGATTTTGAAAACCAATTGTATTTAACCAGCCTCAAATTGTGCAACCATGATGTATAATAAAG

>5237_5237_10_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000534328_VPS26A_chr10_70916763_ENST00000373382_length(amino acids)=296AA_BP=43
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKELFNDKSNTHEFVNLVKELALPGELTQSRSYDFEFMQVEKPYESY
IGANVRLRYFLKVTIVRRLTDLVKEYDLIVHQLATYPDVNNSIKMEVGIEDCLHIEFEYNKSKYHLKDVIVGKIYFLLVRIKIQHMELQL
IKKEITGIGPSTTTETETIAKYEIMDGAPVKGESIPIRLFLAGYDPTPTMRDVNKKFSVRYFLNLVLVDEEDRRYFKQQEIILWRKAPEK

--------------------------------------------------------------
>5237_5237_11_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000534328_VPS26A_chr10_70916763_ENST00000395098_length(transcript)=2477nt_BP=278nt
GCTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCC
CGCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCT
GGCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAA
ATTTAAAGAACTTTTCAATGACAAGAGTAATACTCATGAATTTGTAAACCTAGTGAAAGAACTAGCCTTACCTGGAGAACTGACTCAGAG
CAGAAGTTATGATTTTGAATTTATGCAAGTTGAAAAGCCATATGAATCTTACATCGGTGCCAATGTCCGCTTGAGGTATTTTCTTAAAGT
GACAATAGTGAGAAGACTGACAGATTTGGTAAAAGAGTATGATCTTATTGTTCACCAGCTTGCCACCTATCCTGATGTTAACAACTCTAT
TAAGATGGAAGTGGGCATTGAAGATTGTCTACATATAGAATTTGAATATAATAAATCAAAGTATCATTTAAAGGATGTGATTGTTGGAAA
AATTTACTTCTTATTAGTAAGAATAAAAATACAACATATGGAGTTACAGCTGATCAAAAAAGAGATCACAGGAATTGGACCCAGTACCAC
AACAGAAACAGAAACAATCGCCAAATATGAAATAATGGATGGTGCACCAGTAAAAGGAGATAATTTTATGGAGAAAAGCTCCTGAAAAAC
TGAGGAAACAGAGAACAAACTTTCACCAGCGATTTGAATCTCCAGAATCACAGGCATCTGCCGAACAGCCTGAAATGTGAACTGAACAGG
AGAAAAAAAGAAAAGCAAAAAACTCCTGTAACCCTTGAGATTAAGTTCAGCAGGTTAAAGATGGTTGCAGCTGGAGGGGGCGGAAAAAGG
CCAAAACTCCATATATGTTAGTCTTCCTTTATCTTACAGCGCAGCATTTATTTTATGATATAATGAAATGTTCGTTCATGTATATACATT
TTTAAAAGTGCTTTCTTTGAAACACTGGAACTTTGTTAAGCTGCCTTTTTTTTTTTAACTTCCTACTTTGATGATAAGCACTCAGATATA
TATCAGCGTAAACATGAAAAATTTTCATGTGAGTAGGCTGGTATTTGTAATTTTGCTTTCTTTCTGCATAATGTTGATTATAAATCCTCT
CTTTTCAGGCTAATGATTACCTCTTATTCTCTACATGCAAAAAATTAAATATTTTGTGTTCAAATAAAATTAGAAAACCTGAGTGGCCTC
TTGTGTCCTGCAGAGATTTAAAACATGGCATCTCAATATTTTTGAGAACTACATTTGTTTTTAACATATGTGTTTGAGAAAAGCATATGG
AGTGTTTCACCGCAGGCACTTCTGAGTACCATTCCATGGCTTCCAGAATTTTATCCTCTTTGAGGTCTTCTGTGCTATGAATATTAGATT
TCTTTCCCCAAGGGATTATGTGGCAGGTCATTATGGCCTTCTTTTTTTTGGCCATATTAAGTAACAGTTTTGCTATATTCCAGTAGTACC
GTTGTGTGTTTTCTGCAATGTGGAGTTGACTTAGCTTGGCATTTTAGATTTGTTAAAACTATTTTTTCCATAAATACTTTGAAACATATT
TATATATTTCAATTTAAGGAATCTTTTTGCCATGTGTATGCAAATATTATTTTCTTCATACATTCATTTTCTTTTCAGGGGAAAATTTTG
GGATGGGGGACTCAGGAGGACCTGTGAAGCATGTAGTTATCTAGATCTGGGTAATTTCATGTTTATTAAACTCGAACTTTGGCTAGTTAA
ACTCATATTGAAACTTCATCTAGTCTCTTAATTTTTTAACACTAAATTCAAGTCATTTGTTTTAAGTCTCTAAAAAAGAAGATTGCAGTC
ATCCATTCATATGCATGGGGTCTGATCGCAAATACACTAAATGTGGAGTGTAGGAACCAAAATGAAACCTGCTGTATGGAAACTACTTTC
ACTTATGGTTCATTGGTTTTTGTACCAATATTTTTTATGCACTTCAGTGCAAGTCTTGTCAGTTAACCTTACTTTATGAGTAAGCTAAAT
AACCCAAATTACATTTCTTTAAACCTGTTTTACTACTATGGCACTTTGATAAAATGGTCAGGAACCAACTTTACTGGCAAAAGGGTCCAT
GTACCACCATGTGCTGGAGCATCTGTTCTACATGTGGATATCTATGAATGGTAATGTTTTCCTTCATGTAAGTGCCTATTCAGAGTTTCA
GAATTTTAAAATGCCAAATATTTTCATGGTCATTTGCATGTAGTAAGCCAGAAAATATTCAAAGAGATTTTGAAAACCAATTGTATTTAA

>5237_5237_11_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000534328_VPS26A_chr10_70916763_ENST00000395098_length(amino acids)=220AA_BP=43
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKELFNDKSNTHEFVNLVKELALPGELTQSRSYDFEFMQVEKPYESY
IGANVRLRYFLKVTIVRRLTDLVKEYDLIVHQLATYPDVNNSIKMEVGIEDCLHIEFEYNKSKYHLKDVIVGKIYFLLVRIKIQHMELQL

--------------------------------------------------------------
>5237_5237_12_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000534328_VPS26A_chr10_70916763_ENST00000546041_length(transcript)=1289nt_BP=278nt
GCTGGGACCCTGAGGCGGCCGTGGTTAGGCGGCTCCCCGGCGGCTCCTCCGCGGCGGTGACGGCGACCGCACTCCCCGCTTCCCGCTCCC
CGCGCTCCTCCGCCCGGGTCCGCCAGCCGAGGCCGCTCCCGAGCGTCGGAAGATGCCGGCCGTGTCCAAGGGGGACGGGATGCGGGGCCT
GGCGGTCTTCATCTCGGATATCCGCAACTGTAAAAGTAAAGAAGCAGAAATAAAAAGGATAAACAAGGAACTGGCAAATATCAGATCAAA
ATTTAAAGAACTTTTCAATGACAAGAGTAATACTCATGAATTTGTAAACCTAGTGAAAGAACTAGCCTTACCTGGAGAACTGACTCAGAG
CAGAAGTTATGATTTTGAATTTATGCAAGTTGAAAAGCCATATGAATCTTACATCGGTGCCAATGTCCGCTTGAGGTATTTTCTTAAAGT
GACAATAGTGAGAAGACTGACAGATTTGGTAAAAGAGTATGATCTTATTGTTCACCAGCTTGCCACCTATCCTGATGTTAACAACTCTAT
TAAGATGGAAGTGGGCATTGAAGATTGTCTACATATAGAATTTGAATATAATAAATCAAAGTATCATTTAAAGGATGTGATTGTTGGAAA
AATTTACTTCTTATTAGTAAGAATAAAAATACAACATATGGAGTTACAGCTGATCAAAAAAGAGATCACAGGAATTGGACCCAGTACCAC
AACAGAAACAGAAACAATCGCCAAATATGAAATAATGGATGGTGCACCAGTAAAAGGTGAATCAATTCCAATAAGGCTATTTTTAGCAGG
ATATGACCCAACTCCAACAATGAGAGATGTGAACAAAAAATTTTCAGTAAGGTACTTTTTGAATTTAGTGCTTGTTGATGAGGAAGACCG
GAGGTACTTCAAACAGCAGGAGATAATTTTATGGAGAAAAGCTCCTGAAAAACTGAGGAAACAGAGAACAAACTTTCACCAGCGATTTGA
ATCTCCAGAATCACAGGCATCTGCCGAACAGCCTGAAATGTGAACTGAACAGGAGAAAAAAAGAAAAGCAAAAAACTCCTGTAACCCTTG
AGATTAAGTTCAGCAGGTTAAAGATGGTTGCAGCTGGAGGGGGCGGAAAAAGGCCAAAACTCCATATATGTTAGTCTTCCTTTATCTTAC
AGCGCAGCATTTATTTTATGATATAATGAAATGTTCGTTCATGTATATACATTTTTAAAAGTGCTTTCTTTGAAACACTGGAACTTTGTT

>5237_5237_12_AP2A2-VPS26A_AP2A2_chr11_959505_ENST00000534328_VPS26A_chr10_70916763_ENST00000546041_length(amino acids)=296AA_BP=43
MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKELFNDKSNTHEFVNLVKELALPGELTQSRSYDFEFMQVEKPYESY
IGANVRLRYFLKVTIVRRLTDLVKEYDLIVHQLATYPDVNNSIKMEVGIEDCLHIEFEYNKSKYHLKDVIVGKIYFLLVRIKIQHMELQL
IKKEITGIGPSTTTETETIAKYEIMDGAPVKGESIPIRLFLAGYDPTPTMRDVNKKFSVRYFLNLVLVDEEDRRYFKQQEIILWRKAPEK

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

Top

Fusion Gene PPI Analysis for AP2A2-VPS26A


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


Top

Related Drugs for AP2A2-VPS26A


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

Top

Related Diseases for AP2A2-VPS26A


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