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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDiseases

Fusion gene ID: 41630

FusionGeneSummary for VPS53_SMG6

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS53_SMG6
Fusion gene ID: 41630
HgeneTgene
Gene symbol

VPS53

SMG6

Gene ID

55275

23293

Gene nameVPS53, GARP complex subunitSMG6, nonsense mediated mRNA decay factor
SynonymsHCCS1|PCH2E|hVps53L|pp13624C17orf31|EST1A|SMG-6|hSMG5/7a
Cytomap

17p13.3

17p13.3

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 53 homologtelomerase-binding protein EST1AEST1 telomerase component homolog Aever shorter telomeres 1Asmg-6 homolog, nonsense mediated mRNA decay factortelomerase subunit EST1A
Modification date2018052320180523
UniProtAcc

Q5VIR6

Q86US8

Ensembl transtripts involved in fusion geneENST00000437048, ENST00000574029, 
ENST00000576149, ENST00000446250, 
ENST00000291074, ENST00000571805, 
ENST00000401468, 
ENST00000544865, 
ENST00000263073, ENST00000354901, 
ENST00000536871, ENST00000573166, 
Fusion gene scores* DoF score10 X 5 X 10=5008 X 6 X 5=240
# samples 138
** MAII scorelog2(13/500*10)=-1.94341647163363
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: VPS53 [Title/Abstract] AND SMG6 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
TgeneSMG6

GO:1904354

negative regulation of telomere capping

12676087


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLIHCTCGA-EP-A2KA-01AVPS53chr17

600658

-SMG6chr17

1989195

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000437048ENST00000544865VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000437048ENST00000263073VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000437048ENST00000354901VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000437048ENST00000536871VPS53chr17

600658

-SMG6chr17

1989195

-
5CDS-5UTRENST00000437048ENST00000573166VPS53chr17

600658

-SMG6chr17

1989195

-
intron-3CDSENST00000574029ENST00000544865VPS53chr17

600658

-SMG6chr17

1989195

-
intron-3CDSENST00000574029ENST00000263073VPS53chr17

600658

-SMG6chr17

1989195

-
intron-3CDSENST00000574029ENST00000354901VPS53chr17

600658

-SMG6chr17

1989195

-
intron-3CDSENST00000574029ENST00000536871VPS53chr17

600658

-SMG6chr17

1989195

-
intron-5UTRENST00000574029ENST00000573166VPS53chr17

600658

-SMG6chr17

1989195

-
intron-3CDSENST00000576149ENST00000544865VPS53chr17

600658

-SMG6chr17

1989195

-
intron-3CDSENST00000576149ENST00000263073VPS53chr17

600658

-SMG6chr17

1989195

-
intron-3CDSENST00000576149ENST00000354901VPS53chr17

600658

-SMG6chr17

1989195

-
intron-3CDSENST00000576149ENST00000536871VPS53chr17

600658

-SMG6chr17

1989195

-
intron-5UTRENST00000576149ENST00000573166VPS53chr17

600658

-SMG6chr17

1989195

-
5UTR-3CDSENST00000446250ENST00000544865VPS53chr17

600658

-SMG6chr17

1989195

-
5UTR-3CDSENST00000446250ENST00000263073VPS53chr17

600658

-SMG6chr17

1989195

-
5UTR-3CDSENST00000446250ENST00000354901VPS53chr17

600658

-SMG6chr17

1989195

-
5UTR-3CDSENST00000446250ENST00000536871VPS53chr17

600658

-SMG6chr17

1989195

-
5UTR-5UTRENST00000446250ENST00000573166VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000291074ENST00000544865VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000291074ENST00000263073VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000291074ENST00000354901VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000291074ENST00000536871VPS53chr17

600658

-SMG6chr17

1989195

-
5CDS-5UTRENST00000291074ENST00000573166VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000571805ENST00000544865VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000571805ENST00000263073VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000571805ENST00000354901VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000571805ENST00000536871VPS53chr17

600658

-SMG6chr17

1989195

-
5CDS-5UTRENST00000571805ENST00000573166VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000401468ENST00000544865VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000401468ENST00000263073VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000401468ENST00000354901VPS53chr17

600658

-SMG6chr17

1989195

-
In-frameENST00000401468ENST00000536871VPS53chr17

600658

-SMG6chr17

1989195

-
5CDS-5UTRENST00000401468ENST00000573166VPS53chr17

600658

-SMG6chr17

1989195

-

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FusionProtFeatures for VPS53_SMG6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VPS53

Q5VIR6

SMG6

Q86US8

Acts as component of the GARP complex that is involvedin retrograde transport from early and late endosomes to thetrans-Golgi network (TGN). The GARP complex is required for themaintenance of the cycling of mannose 6-phosphate receptorsbetween the TGN and endosomes, this cycling is necessary forproper lysosomal sorting of acid hydrolases such as CTSD(PubMed:15878329, PubMed:18367545). Acts as component of the EARPcomplex that is involved in endocytic recycling. The EARP complexassociates with Rab4-positive endosomes and promotes recycling ofinternalized transferrin receptor (TFRC) to the plasma membrane(PubMed:25799061). {ECO:0000269|PubMed:15878329,ECO:0000269|PubMed:18367545, ECO:0000269|PubMed:25799061}. Component of the telomerase ribonucleoprotein (RNP)complex that is essential for the replication of chromosometermini. May have a general role in telomere regulation. Promotesin vitro the ability of TERT to elongate telomeres. Overexpressioninduces telomere uncapping, chromosomal end-to-end fusions(telomeric DNA persists at the fusion points) and did not perturbTRF2 telomeric localization. Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNAtemplate component (TER). Plays a role in nonsense-mediated mRNA decay. Is thoughtto provide a link to the mRNA degradation machinery as it hasendonuclease activity required to initiate NMD, and to serve as anadapter for UPF1 to protein phosphatase 2A (PP2A), therebytriggering UPF1 dephosphorylation. Degrades single-stranded RNA(ssRNA), but not ssDNA or dsRNA.

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
TgeneSMG6chr17:600658chr17:1989195ENST00000263073-12191197_123911191420Coiled coilOntology_term=ECO:0000255
TgeneSMG6chr17:600658chr17:1989195ENST00000354901-5121197_1239211512Coiled coilOntology_term=ECO:0000255
TgeneSMG6chr17:600658chr17:1989195ENST00000354901-512567_625211512Coiled coilOntology_term=ECO:0000255
TgeneSMG6chr17:600658chr17:1989195ENST00000536871-4111197_1239211512Coiled coilOntology_term=ECO:0000255
TgeneSMG6chr17:600658chr17:1989195ENST00000536871-411567_625211512Coiled coilOntology_term=ECO:0000255
TgeneSMG6chr17:600658chr17:1989195ENST00000544865-12191197_123910881389Coiled coilOntology_term=ECO:0000255
TgeneSMG6chr17:600658chr17:1989195ENST00000263073-12191246_139711191420DomainNote=PINc
TgeneSMG6chr17:600658chr17:1989195ENST00000354901-5121246_1397211512DomainNote=PINc
TgeneSMG6chr17:600658chr17:1989195ENST00000536871-4111246_1397211512DomainNote=PINc
TgeneSMG6chr17:600658chr17:1989195ENST00000544865-12191246_139710881389DomainNote=PINc

- In-frame and not-retained protein feature among the 13 regional features.
>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneVPS53chr17:600658chr17:1989195ENST00000291074-41855_14295671Coiled coilOntology_term=ECO:0000255
HgeneVPS53chr17:600658chr17:1989195ENST00000437048-42255_14295833Coiled coilOntology_term=ECO:0000255
HgeneVPS53chr17:600658chr17:1989195ENST00000571805-41955_14295700Coiled coilOntology_term=ECO:0000255
TgeneSMG6chr17:600658chr17:1989195ENST00000263073-1219163_19311191420Coiled coilOntology_term=ECO:0000255
TgeneSMG6chr17:600658chr17:1989195ENST00000263073-1219567_62511191420Coiled coilOntology_term=ECO:0000255
TgeneSMG6chr17:600658chr17:1989195ENST00000354901-512163_193211512Coiled coilOntology_term=ECO:0000255
TgeneSMG6chr17:600658chr17:1989195ENST00000536871-411163_193211512Coiled coilOntology_term=ECO:0000255
TgeneSMG6chr17:600658chr17:1989195ENST00000544865-1219163_19310881389Coiled coilOntology_term=ECO:0000255
TgeneSMG6chr17:600658chr17:1989195ENST00000544865-1219567_62510881389Coiled coilOntology_term=ECO:0000255


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FusionGeneSequence for VPS53_SMG6


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_VPS53_ENST00000437048_chr17_600658_-_SMG6_ENST00000544865_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000437048_chr17_600658_-_SMG6_ENST00000263073_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000437048_chr17_600658_-_SMG6_ENST00000354901_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000437048_chr17_600658_-_SMG6_ENST00000536871_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000291074_chr17_600658_-_SMG6_ENST00000544865_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000291074_chr17_600658_-_SMG6_ENST00000263073_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000291074_chr17_600658_-_SMG6_ENST00000354901_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000291074_chr17_600658_-_SMG6_ENST00000536871_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000571805_chr17_600658_-_SMG6_ENST00000544865_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000571805_chr17_600658_-_SMG6_ENST00000263073_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000571805_chr17_600658_-_SMG6_ENST00000354901_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000571805_chr17_600658_-_SMG6_ENST00000536871_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000401468_chr17_600658_-_SMG6_ENST00000544865_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000401468_chr17_600658_-_SMG6_ENST00000263073_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000401468_chr17_600658_-_SMG6_ENST00000354901_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR

>In-frame_VPS53_ENST00000401468_chr17_600658_-_SMG6_ENST00000536871_chr17_1989195_-_396aa
MMEEEELEFVEELEAVLQLTPEVQLAIEQVFPSQDPLDRADFNAVEYINTLFPTEQSLANIDEVVNKIRLKIRRLDDNIRTVVRGQTNVG
QDGRQVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRE
LRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDH
RAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLR


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_VPS53_ENST00000437048_chr17_600658_-_SMG6_ENST00000544865_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000437048_chr17_600658_-_SMG6_ENST00000263073_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000437048_chr17_600658_-_SMG6_ENST00000354901_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000437048_chr17_600658_-_SMG6_ENST00000536871_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000291074_chr17_600658_-_SMG6_ENST00000544865_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000291074_chr17_600658_-_SMG6_ENST00000263073_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000291074_chr17_600658_-_SMG6_ENST00000354901_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000291074_chr17_600658_-_SMG6_ENST00000536871_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000571805_chr17_600658_-_SMG6_ENST00000544865_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000571805_chr17_600658_-_SMG6_ENST00000263073_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000571805_chr17_600658_-_SMG6_ENST00000354901_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000571805_chr17_600658_-_SMG6_ENST00000536871_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000401468_chr17_600658_-_SMG6_ENST00000544865_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000401468_chr17_600658_-_SMG6_ENST00000263073_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000401468_chr17_600658_-_SMG6_ENST00000354901_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG

>In-frame_VPS53_ENST00000401468_chr17_600658_-_SMG6_ENST00000536871_chr17_1989195_-_1188nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG


* Fusion transcript sequences (Full-length transcript).
>In-frame_VPS53_ENST00000437048_chr17_600658_-_SMG6_ENST00000544865_chr17_1989195_-_2988nt
GAAGTGCCGGAGCGGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGG
CGGCTGGAGGCCTGAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAG
GAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGAT
TTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAA
ATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGTTATTGCAGCTGACTGC
AAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCTCTGCTGGCATTCAAGGGTGGAAAGTATGTGTCA
GTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGACTGGAAGATGAGGAGGAGGATGTGGTGATTGAA
GACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAGCTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAG
ATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGTCAGATGAGGCAGATGGAGCTCGAAATCAGACCT
TTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGGCTGCTGGAGAGCAGGAAGTACATCCTGGTGGTG
CCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCACCGGGCTGGGGGCTACGCCCGTGTGGTACAAGAG
AAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGCCTGCGAGCCCTGACCAGCCGTGGCAATGAACTC
GAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGATCTCATCCTGTCCTGCTGCCTCCACTACTGCAAA
GACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGGGAGGTGGTGCTGTTGACGGATGACCGGAACCTG
CGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACGTGGGCCCAGGTGGGCTGAGGGAGCCACACTGGG
GCCCCCCCCCCGTGGAACCGTTCCTGAAAGGCCACCAGGCGCCCAGTGTAGCACGGAAGATGCCCACGTGCCTGAGCCACCAATCCACCC
AGACAATAAACCATCCTCTTCCAACCCACGCCACGGCCATGCTGTGGGGGACCTGCTCCTCACAGAGCCCCTCCCAAGGATCGGGCGGAA
GCTGCTGGGACCCTCCTGGGCTGCCAGGATTTAGCAGGGAGGTGGCTGGCTACAGCAACAGCAGCTGGGCAAGCCAGATAGGCCGCCCAT
GCTCTCAGCCTTTCTCCCTCCCCCGTCTCATTCCAAGGCTGAGGGAGGGCCTTCTCGCCTGGGGACGCAGCCACTTTCTCCAGTGGAGAC
AGGGCAGGGGTTCTGAGTTTCCGTCAGATGCAGTGAAATCACAGTTCCCTTTCATCTTCAGAACCTCTGTCGTGAATGTGTTCAAGAGGC
TTTGGTTAAGTCAGGAAGAAGTGCCCAGGGTGTGTGTCCCCAGTCTCCCTGAGGCCTGGACTCGCCCATGAACCCAAGTCGGCTTCTAGA
CAGCATGTCCCTAACAGCAGCCCTGGGCCCCCACCTCTTCTACCATCCACCCCAGACTTACCACACACCCTTCCTGCTGCTCCTCTTCCT
GCCCTTATCAACCTGGGTCCCTCACACTTCGCCAGTTGCGTCCCCGTGGACAGTCATGAGTCTAGAGGAAAGGGGCATCTGGTCTCAGGC
CCGTGCTCTCGGGTGGCCTCCACCTGCTCCCTCTCTCCTCACTGGCCTTTCTTTCCGTCTAGCTTCCTCTTCAGGAAATGTCCTGACTCC
CCTCAGCTCCCCCTTCACCCCTCCTTGCCCGCCTACCCTCCCTCCAGAATAGCCCCTCACCCTTCTTCCCCTTCTAGTTGATCCTTTTCA
CCTCCCTGATCCCCTTCATTTCTTCACCGCGGTTCCTCGTCATAGGGGTTCTCACTCTGAACTTTCCCTCTCTACTACCCATGGCAGGAA
CCTAGTACAGGTCTCCCACCCAGGGCCTTCCACCCTCGGCTCCTGTGCTGGGAGAAACTTCCAGGCGTGGACAGCCCAGCCTGAGGCATT
CCAGTGCTGGGGCACCGTCGCCTAACCTGGTTTCTAGCTTTGCCCTCACTCCCCGGAAAAACTGACACTGACACAGGGGCCCTTTCCTTG
CCCCTTTAGCTGGTACCTCAGTGGGGAGGCTTCCTTACCAAGAATGAGTTCCTGAAACCCAGGGCCAGAGACAAGGACAACTTAGGGGAA
GACGGGGTTTTCGGTGGAGCCAGGGGCAAATCTTAATGGGACCAGTGGGGGATACCCCAGAGCCCATGGCCTGACTGCACAGCCTGCCTG
GAGGATGGGTGCGCAGCTCTGCCCTCCCTGAGGCCCAGGACTATGCCAGAAGCGATGGGGTACCGTGTAGGGGAGCCAAGGCCAGTAGTT
TGGGGGTAGGAGTCCCCTAGAGTCTCAGAAGACTGGGCTCTTTGGAGTACAGGGTCCCCGGCCTCTCCTTTAAGATTCTCTCCCCAGCTG
GAAGGCCGATGACTGGGTGGTCGGGAGGGAGACCCAGCTCTCCTTTCTGTCCCGTTTGCAGCACTGGTTTTGTTTCCTTAATAAATTTTT

>In-frame_VPS53_ENST00000437048_chr17_600658_-_SMG6_ENST00000263073_chr17_1989195_-_2984nt
GAAGTGCCGGAGCGGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGG
CGGCTGGAGGCCTGAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAG
GAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGAT
TTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAA
ATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGTTATTGCAGCTGACTGC
AAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCTCTGCTGGCATTCAAGGGTGGAAAGTATGTGTCA
GTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGACTGGAAGATGAGGAGGAGGATGTGGTGATTGAA
GACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAGCTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAG
ATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGTCAGATGAGGCAGATGGAGCTCGAAATCAGACCT
TTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGGCTGCTGGAGAGCAGGAAGTACATCCTGGTGGTG
CCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCACCGGGCTGGGGGCTACGCCCGTGTGGTACAAGAG
AAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGCCTGCGAGCCCTGACCAGCCGTGGCAATGAACTC
GAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGATCTCATCCTGTCCTGCTGCCTCCACTACTGCAAA
GACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGGGAGGTGGTGCTGTTGACGGATGACCGGAACCTG
CGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACGTGGGCCCAGGTGGGCTGAGGGAGCCACACTGGG
GCCCCCCCCCCGTGGAACCGTTCCTGAAAGGCCACCAGGCGCCCAGTGTAGCACGGAAGATGCCCACGTGCCTGAGCCACCAATCCACCC
AGACAATAAACCATCCTCTTCCAACCCACGCCACGGCCATGCTGTGGGGGACCTGCTCCTCACAGAGCCCCTCCCAAGGATCGGGCGGAA
GCTGCTGGGACCCTCCTGGGCTGCCAGGATTTAGCAGGGAGGTGGCTGGCTACAGCAACAGCAGCTGGGCAAGCCAGATAGGCCGCCCAT
GCTCTCAGCCTTTCTCCCTCCCCCGTCTCATTCCAAGGCTGAGGGAGGGCCTTCTCGCCTGGGGACGCAGCCACTTTCTCCAGTGGAGAC
AGGGCAGGGGTTCTGAGTTTCCGTCAGATGCAGTGAAATCACAGTTCCCTTTCATCTTCAGAACCTCTGTCGTGAATGTGTTCAAGAGGC
TTTGGTTAAGTCAGGAAGAAGTGCCCAGGGTGTGTGTCCCCAGTCTCCCTGAGGCCTGGACTCGCCCATGAACCCAAGTCGGCTTCTAGA
CAGCATGTCCCTAACAGCAGCCCTGGGCCCCCACCTCTTCTACCATCCACCCCAGACTTACCACACACCCTTCCTGCTGCTCCTCTTCCT
GCCCTTATCAACCTGGGTCCCTCACACTTCGCCAGTTGCGTCCCCGTGGACAGTCATGAGTCTAGAGGAAAGGGGCATCTGGTCTCAGGC
CCGTGCTCTCGGGTGGCCTCCACCTGCTCCCTCTCTCCTCACTGGCCTTTCTTTCCGTCTAGCTTCCTCTTCAGGAAATGTCCTGACTCC
CCTCAGCTCCCCCTTCACCCCTCCTTGCCCGCCTACCCTCCCTCCAGAATAGCCCCTCACCCTTCTTCCCCTTCTAGTTGATCCTTTTCA
CCTCCCTGATCCCCTTCATTTCTTCACCGCGGTTCCTCGTCATAGGGGTTCTCACTCTGAACTTTCCCTCTCTACTACCCATGGCAGGAA
CCTAGTACAGGTCTCCCACCCAGGGCCTTCCACCCTCGGCTCCTGTGCTGGGAGAAACTTCCAGGCGTGGACAGCCCAGCCTGAGGCATT
CCAGTGCTGGGGCACCGTCGCCTAACCTGGTTTCTAGCTTTGCCCTCACTCCCCGGAAAAACTGACACTGACACAGGGGCCCTTTCCTTG
CCCCTTTAGCTGGTACCTCAGTGGGGAGGCTTCCTTACCAAGAATGAGTTCCTGAAACCCAGGGCCAGAGACAAGGACAACTTAGGGGAA
GACGGGGTTTTCGGTGGAGCCAGGGGCAAATCTTAATGGGACCAGTGGGGGATACCCCAGAGCCCATGGCCTGACTGCACAGCCTGCCTG
GAGGATGGGTGCGCAGCTCTGCCCTCCCTGAGGCCCAGGACTATGCCAGAAGCGATGGGGTACCGTGTAGGGGAGCCAAGGCCAGTAGTT
TGGGGGTAGGAGTCCCCTAGAGTCTCAGAAGACTGGGCTCTTTGGAGTACAGGGTCCCCGGCCTCTCCTTTAAGATTCTCTCCCCAGCTG
GAAGGCCGATGACTGGGTGGTCGGGAGGGAGACCCAGCTCTCCTTTCTGTCCCGTTTGCAGCACTGGTTTTGTTTCCTTAATAAATTTTT

>In-frame_VPS53_ENST00000437048_chr17_600658_-_SMG6_ENST00000354901_chr17_1989195_-_2977nt
GAAGTGCCGGAGCGGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGG
CGGCTGGAGGCCTGAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAG
GAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGAT
TTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAA
ATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGTTATTGCAGCTGACTGC
AAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCTCTGCTGGCATTCAAGGGTGGAAAGTATGTGTCA
GTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGACTGGAAGATGAGGAGGAGGATGTGGTGATTGAA
GACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAGCTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAG
ATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGTCAGATGAGGCAGATGGAGCTCGAAATCAGACCT
TTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGGCTGCTGGAGAGCAGGAAGTACATCCTGGTGGTG
CCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCACCGGGCTGGGGGCTACGCCCGTGTGGTACAAGAG
AAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGCCTGCGAGCCCTGACCAGCCGTGGCAATGAACTC
GAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGATCTCATCCTGTCCTGCTGCCTCCACTACTGCAAA
GACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGGGAGGTGGTGCTGTTGACGGATGACCGGAACCTG
CGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACGTGGGCCCAGGTGGGCTGAGGGAGCCACACTGGG
GCCCCCCCCCCGTGGAACCGTTCCTGAAAGGCCACCAGGCGCCCAGTGTAGCACGGAAGATGCCCACGTGCCTGAGCCACCAATCCACCC
AGACAATAAACCATCCTCTTCCAACCCACGCCACGGCCATGCTGTGGGGGACCTGCTCCTCACAGAGCCCCTCCCAAGGATCGGGCGGAA
GCTGCTGGGACCCTCCTGGGCTGCCAGGATTTAGCAGGGAGGTGGCTGGCTACAGCAACAGCAGCTGGGCAAGCCAGATAGGCCGCCCAT
GCTCTCAGCCTTTCTCCCTCCCCCGTCTCATTCCAAGGCTGAGGGAGGGCCTTCTCGCCTGGGGACGCAGCCACTTTCTCCAGTGGAGAC
AGGGCAGGGGTTCTGAGTTTCCGTCAGATGCAGTGAAATCACAGTTCCCTTTCATCTTCAGAACCTCTGTCGTGAATGTGTTCAAGAGGC
TTTGGTTAAGTCAGGAAGAAGTGCCCAGGGTGTGTGTCCCCAGTCTCCCTGAGGCCTGGACTCGCCCATGAACCCAAGTCGGCTTCTAGA
CAGCATGTCCCTAACAGCAGCCCTGGGCCCCCACCTCTTCTACCATCCACCCCAGACTTACCACACACCCTTCCTGCTGCTCCTCTTCCT
GCCCTTATCAACCTGGGTCCCTCACACTTCGCCAGTTGCGTCCCCGTGGACAGTCATGAGTCTAGAGGAAAGGGGCATCTGGTCTCAGGC
CCGTGCTCTCGGGTGGCCTCCACCTGCTCCCTCTCTCCTCACTGGCCTTTCTTTCCGTCTAGCTTCCTCTTCAGGAAATGTCCTGACTCC
CCTCAGCTCCCCCTTCACCCCTCCTTGCCCGCCTACCCTCCCTCCAGAATAGCCCCTCACCCTTCTTCCCCTTCTAGTTGATCCTTTTCA
CCTCCCTGATCCCCTTCATTTCTTCACCGCGGTTCCTCGTCATAGGGGTTCTCACTCTGAACTTTCCCTCTCTACTACCCATGGCAGGAA
CCTAGTACAGGTCTCCCACCCAGGGCCTTCCACCCTCGGCTCCTGTGCTGGGAGAAACTTCCAGGCGTGGACAGCCCAGCCTGAGGCATT
CCAGTGCTGGGGCACCGTCGCCTAACCTGGTTTCTAGCTTTGCCCTCACTCCCCGGAAAAACTGACACTGACACAGGGGCCCTTTCCTTG
CCCCTTTAGCTGGTACCTCAGTGGGGAGGCTTCCTTACCAAGAATGAGTTCCTGAAACCCAGGGCCAGAGACAAGGACAACTTAGGGGAA
GACGGGGTTTTCGGTGGAGCCAGGGGCAAATCTTAATGGGACCAGTGGGGGATACCCCAGAGCCCATGGCCTGACTGCACAGCCTGCCTG
GAGGATGGGTGCGCAGCTCTGCCCTCCCTGAGGCCCAGGACTATGCCAGAAGCGATGGGGTACCGTGTAGGGGAGCCAAGGCCAGTAGTT
TGGGGGTAGGAGTCCCCTAGAGTCTCAGAAGACTGGGCTCTTTGGAGTACAGGGTCCCCGGCCTCTCCTTTAAGATTCTCTCCCCAGCTG
GAAGGCCGATGACTGGGTGGTCGGGAGGGAGACCCAGCTCTCCTTTCTGTCCCGTTTGCAGCACTGGTTTTGTTTCCTTAATAAATTTTT

>In-frame_VPS53_ENST00000437048_chr17_600658_-_SMG6_ENST00000536871_chr17_1989195_-_1422nt
GAAGTGCCGGAGCGGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGG
CGGCTGGAGGCCTGAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAG
GAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGAT
TTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAA
ATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGTTATTGCAGCTGACTGC
AAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCTCTGCTGGCATTCAAGGGTGGAAAGTATGTGTCA
GTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGACTGGAAGATGAGGAGGAGGATGTGGTGATTGAA
GACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAGCTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAG
ATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGTCAGATGAGGCAGATGGAGCTCGAAATCAGACCT
TTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGGCTGCTGGAGAGCAGGAAGTACATCCTGGTGGTG
CCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCACCGGGCTGGGGGCTACGCCCGTGTGGTACAAGAG
AAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGCCTGCGAGCCCTGACCAGCCGTGGCAATGAACTC
GAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGATCTCATCCTGTCCTGCTGCCTCCACTACTGCAAA
GACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGGGAGGTGGTGCTGTTGACGGATGACCGGAACCTG
CGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACGTGGGCCCAGGTGGGCTGAGGGAGCCACACTGGG

>In-frame_VPS53_ENST00000291074_chr17_600658_-_SMG6_ENST00000544865_chr17_1989195_-_2975nt
GGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGGCGGCTGGAGGCCT
GAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCG
TGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTG
AGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGG
ATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAG
TGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCTCTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCC
CAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGACTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAG
ATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAGCTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGC
AGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGTCAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTAC
CAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGGCTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGA
TCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCACCGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGT
CCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGCCTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCT
TCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGATCTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGG
ACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGGGAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGC
TCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACGTGGGCCCAGGTGGGCTGAGGGAGCCACACTGGGGCCCCCCCCCCGT
GGAACCGTTCCTGAAAGGCCACCAGGCGCCCAGTGTAGCACGGAAGATGCCCACGTGCCTGAGCCACCAATCCACCCAGACAATAAACCA
TCCTCTTCCAACCCACGCCACGGCCATGCTGTGGGGGACCTGCTCCTCACAGAGCCCCTCCCAAGGATCGGGCGGAAGCTGCTGGGACCC
TCCTGGGCTGCCAGGATTTAGCAGGGAGGTGGCTGGCTACAGCAACAGCAGCTGGGCAAGCCAGATAGGCCGCCCATGCTCTCAGCCTTT
CTCCCTCCCCCGTCTCATTCCAAGGCTGAGGGAGGGCCTTCTCGCCTGGGGACGCAGCCACTTTCTCCAGTGGAGACAGGGCAGGGGTTC
TGAGTTTCCGTCAGATGCAGTGAAATCACAGTTCCCTTTCATCTTCAGAACCTCTGTCGTGAATGTGTTCAAGAGGCTTTGGTTAAGTCA
GGAAGAAGTGCCCAGGGTGTGTGTCCCCAGTCTCCCTGAGGCCTGGACTCGCCCATGAACCCAAGTCGGCTTCTAGACAGCATGTCCCTA
ACAGCAGCCCTGGGCCCCCACCTCTTCTACCATCCACCCCAGACTTACCACACACCCTTCCTGCTGCTCCTCTTCCTGCCCTTATCAACC
TGGGTCCCTCACACTTCGCCAGTTGCGTCCCCGTGGACAGTCATGAGTCTAGAGGAAAGGGGCATCTGGTCTCAGGCCCGTGCTCTCGGG
TGGCCTCCACCTGCTCCCTCTCTCCTCACTGGCCTTTCTTTCCGTCTAGCTTCCTCTTCAGGAAATGTCCTGACTCCCCTCAGCTCCCCC
TTCACCCCTCCTTGCCCGCCTACCCTCCCTCCAGAATAGCCCCTCACCCTTCTTCCCCTTCTAGTTGATCCTTTTCACCTCCCTGATCCC
CTTCATTTCTTCACCGCGGTTCCTCGTCATAGGGGTTCTCACTCTGAACTTTCCCTCTCTACTACCCATGGCAGGAACCTAGTACAGGTC
TCCCACCCAGGGCCTTCCACCCTCGGCTCCTGTGCTGGGAGAAACTTCCAGGCGTGGACAGCCCAGCCTGAGGCATTCCAGTGCTGGGGC
ACCGTCGCCTAACCTGGTTTCTAGCTTTGCCCTCACTCCCCGGAAAAACTGACACTGACACAGGGGCCCTTTCCTTGCCCCTTTAGCTGG
TACCTCAGTGGGGAGGCTTCCTTACCAAGAATGAGTTCCTGAAACCCAGGGCCAGAGACAAGGACAACTTAGGGGAAGACGGGGTTTTCG
GTGGAGCCAGGGGCAAATCTTAATGGGACCAGTGGGGGATACCCCAGAGCCCATGGCCTGACTGCACAGCCTGCCTGGAGGATGGGTGCG
CAGCTCTGCCCTCCCTGAGGCCCAGGACTATGCCAGAAGCGATGGGGTACCGTGTAGGGGAGCCAAGGCCAGTAGTTTGGGGGTAGGAGT
CCCCTAGAGTCTCAGAAGACTGGGCTCTTTGGAGTACAGGGTCCCCGGCCTCTCCTTTAAGATTCTCTCCCCAGCTGGAAGGCCGATGAC
TGGGTGGTCGGGAGGGAGACCCAGCTCTCCTTTCTGTCCCGTTTGCAGCACTGGTTTTGTTTCCTTAATAAATTTTTAGTTATGAAACAT

>In-frame_VPS53_ENST00000291074_chr17_600658_-_SMG6_ENST00000263073_chr17_1989195_-_2971nt
GGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGGCGGCTGGAGGCCT
GAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCG
TGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTG
AGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGG
ATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAG
TGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCTCTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCC
CAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGACTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAG
ATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAGCTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGC
AGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGTCAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTAC
CAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGGCTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGA
TCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCACCGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGT
CCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGCCTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCT
TCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGATCTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGG
ACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGGGAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGC
TCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACGTGGGCCCAGGTGGGCTGAGGGAGCCACACTGGGGCCCCCCCCCCGT
GGAACCGTTCCTGAAAGGCCACCAGGCGCCCAGTGTAGCACGGAAGATGCCCACGTGCCTGAGCCACCAATCCACCCAGACAATAAACCA
TCCTCTTCCAACCCACGCCACGGCCATGCTGTGGGGGACCTGCTCCTCACAGAGCCCCTCCCAAGGATCGGGCGGAAGCTGCTGGGACCC
TCCTGGGCTGCCAGGATTTAGCAGGGAGGTGGCTGGCTACAGCAACAGCAGCTGGGCAAGCCAGATAGGCCGCCCATGCTCTCAGCCTTT
CTCCCTCCCCCGTCTCATTCCAAGGCTGAGGGAGGGCCTTCTCGCCTGGGGACGCAGCCACTTTCTCCAGTGGAGACAGGGCAGGGGTTC
TGAGTTTCCGTCAGATGCAGTGAAATCACAGTTCCCTTTCATCTTCAGAACCTCTGTCGTGAATGTGTTCAAGAGGCTTTGGTTAAGTCA
GGAAGAAGTGCCCAGGGTGTGTGTCCCCAGTCTCCCTGAGGCCTGGACTCGCCCATGAACCCAAGTCGGCTTCTAGACAGCATGTCCCTA
ACAGCAGCCCTGGGCCCCCACCTCTTCTACCATCCACCCCAGACTTACCACACACCCTTCCTGCTGCTCCTCTTCCTGCCCTTATCAACC
TGGGTCCCTCACACTTCGCCAGTTGCGTCCCCGTGGACAGTCATGAGTCTAGAGGAAAGGGGCATCTGGTCTCAGGCCCGTGCTCTCGGG
TGGCCTCCACCTGCTCCCTCTCTCCTCACTGGCCTTTCTTTCCGTCTAGCTTCCTCTTCAGGAAATGTCCTGACTCCCCTCAGCTCCCCC
TTCACCCCTCCTTGCCCGCCTACCCTCCCTCCAGAATAGCCCCTCACCCTTCTTCCCCTTCTAGTTGATCCTTTTCACCTCCCTGATCCC
CTTCATTTCTTCACCGCGGTTCCTCGTCATAGGGGTTCTCACTCTGAACTTTCCCTCTCTACTACCCATGGCAGGAACCTAGTACAGGTC
TCCCACCCAGGGCCTTCCACCCTCGGCTCCTGTGCTGGGAGAAACTTCCAGGCGTGGACAGCCCAGCCTGAGGCATTCCAGTGCTGGGGC
ACCGTCGCCTAACCTGGTTTCTAGCTTTGCCCTCACTCCCCGGAAAAACTGACACTGACACAGGGGCCCTTTCCTTGCCCCTTTAGCTGG
TACCTCAGTGGGGAGGCTTCCTTACCAAGAATGAGTTCCTGAAACCCAGGGCCAGAGACAAGGACAACTTAGGGGAAGACGGGGTTTTCG
GTGGAGCCAGGGGCAAATCTTAATGGGACCAGTGGGGGATACCCCAGAGCCCATGGCCTGACTGCACAGCCTGCCTGGAGGATGGGTGCG
CAGCTCTGCCCTCCCTGAGGCCCAGGACTATGCCAGAAGCGATGGGGTACCGTGTAGGGGAGCCAAGGCCAGTAGTTTGGGGGTAGGAGT
CCCCTAGAGTCTCAGAAGACTGGGCTCTTTGGAGTACAGGGTCCCCGGCCTCTCCTTTAAGATTCTCTCCCCAGCTGGAAGGCCGATGAC
TGGGTGGTCGGGAGGGAGACCCAGCTCTCCTTTCTGTCCCGTTTGCAGCACTGGTTTTGTTTCCTTAATAAATTTTTAGTTATGAAACAT

>In-frame_VPS53_ENST00000291074_chr17_600658_-_SMG6_ENST00000354901_chr17_1989195_-_2964nt
GGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGGCGGCTGGAGGCCT
GAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCG
TGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTG
AGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGG
ATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAG
TGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCTCTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCC
CAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGACTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAG
ATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAGCTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGC
AGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGTCAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTAC
CAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGGCTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGA
TCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCACCGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGT
CCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGCCTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCT
TCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGATCTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGG
ACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGGGAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGC
TCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACGTGGGCCCAGGTGGGCTGAGGGAGCCACACTGGGGCCCCCCCCCCGT
GGAACCGTTCCTGAAAGGCCACCAGGCGCCCAGTGTAGCACGGAAGATGCCCACGTGCCTGAGCCACCAATCCACCCAGACAATAAACCA
TCCTCTTCCAACCCACGCCACGGCCATGCTGTGGGGGACCTGCTCCTCACAGAGCCCCTCCCAAGGATCGGGCGGAAGCTGCTGGGACCC
TCCTGGGCTGCCAGGATTTAGCAGGGAGGTGGCTGGCTACAGCAACAGCAGCTGGGCAAGCCAGATAGGCCGCCCATGCTCTCAGCCTTT
CTCCCTCCCCCGTCTCATTCCAAGGCTGAGGGAGGGCCTTCTCGCCTGGGGACGCAGCCACTTTCTCCAGTGGAGACAGGGCAGGGGTTC
TGAGTTTCCGTCAGATGCAGTGAAATCACAGTTCCCTTTCATCTTCAGAACCTCTGTCGTGAATGTGTTCAAGAGGCTTTGGTTAAGTCA
GGAAGAAGTGCCCAGGGTGTGTGTCCCCAGTCTCCCTGAGGCCTGGACTCGCCCATGAACCCAAGTCGGCTTCTAGACAGCATGTCCCTA
ACAGCAGCCCTGGGCCCCCACCTCTTCTACCATCCACCCCAGACTTACCACACACCCTTCCTGCTGCTCCTCTTCCTGCCCTTATCAACC
TGGGTCCCTCACACTTCGCCAGTTGCGTCCCCGTGGACAGTCATGAGTCTAGAGGAAAGGGGCATCTGGTCTCAGGCCCGTGCTCTCGGG
TGGCCTCCACCTGCTCCCTCTCTCCTCACTGGCCTTTCTTTCCGTCTAGCTTCCTCTTCAGGAAATGTCCTGACTCCCCTCAGCTCCCCC
TTCACCCCTCCTTGCCCGCCTACCCTCCCTCCAGAATAGCCCCTCACCCTTCTTCCCCTTCTAGTTGATCCTTTTCACCTCCCTGATCCC
CTTCATTTCTTCACCGCGGTTCCTCGTCATAGGGGTTCTCACTCTGAACTTTCCCTCTCTACTACCCATGGCAGGAACCTAGTACAGGTC
TCCCACCCAGGGCCTTCCACCCTCGGCTCCTGTGCTGGGAGAAACTTCCAGGCGTGGACAGCCCAGCCTGAGGCATTCCAGTGCTGGGGC
ACCGTCGCCTAACCTGGTTTCTAGCTTTGCCCTCACTCCCCGGAAAAACTGACACTGACACAGGGGCCCTTTCCTTGCCCCTTTAGCTGG
TACCTCAGTGGGGAGGCTTCCTTACCAAGAATGAGTTCCTGAAACCCAGGGCCAGAGACAAGGACAACTTAGGGGAAGACGGGGTTTTCG
GTGGAGCCAGGGGCAAATCTTAATGGGACCAGTGGGGGATACCCCAGAGCCCATGGCCTGACTGCACAGCCTGCCTGGAGGATGGGTGCG
CAGCTCTGCCCTCCCTGAGGCCCAGGACTATGCCAGAAGCGATGGGGTACCGTGTAGGGGAGCCAAGGCCAGTAGTTTGGGGGTAGGAGT
CCCCTAGAGTCTCAGAAGACTGGGCTCTTTGGAGTACAGGGTCCCCGGCCTCTCCTTTAAGATTCTCTCCCCAGCTGGAAGGCCGATGAC

>In-frame_VPS53_ENST00000291074_chr17_600658_-_SMG6_ENST00000536871_chr17_1989195_-_1409nt
GGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGGCGGCTGGAGGCCT
GAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCG
TGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTG
AGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGG
ATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAG
TGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCTCTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCC
CAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGACTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAG
ATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAGCTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGC
AGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGTCAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTAC
CAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGGCTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGA
TCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCACCGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGT
CCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGCCTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCT
TCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGATCTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGG
ACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGGGAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGC
TCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACGTGGGCCCAGGTGGGCTGAGGGAGCCACACTGGGGCCCCCCCCCCGT

>In-frame_VPS53_ENST00000571805_chr17_600658_-_SMG6_ENST00000544865_chr17_1989195_-_2978nt
AGCGGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGGCGGCTGGAGG
CCTGAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAG
CCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTG
TTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGAC
TGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCA
CAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCTCTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCG
TCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGACTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGG
AAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAGCTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGC
AGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGTCAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCG
TACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGGCTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCG
TGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCACCGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCA
AGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGCCTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCG
CCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGATCTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTA
AGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGGGAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGG
CGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACGTGGGCCCAGGTGGGCTGAGGGAGCCACACTGGGGCCCCCCCCC
CGTGGAACCGTTCCTGAAAGGCCACCAGGCGCCCAGTGTAGCACGGAAGATGCCCACGTGCCTGAGCCACCAATCCACCCAGACAATAAA
CCATCCTCTTCCAACCCACGCCACGGCCATGCTGTGGGGGACCTGCTCCTCACAGAGCCCCTCCCAAGGATCGGGCGGAAGCTGCTGGGA
CCCTCCTGGGCTGCCAGGATTTAGCAGGGAGGTGGCTGGCTACAGCAACAGCAGCTGGGCAAGCCAGATAGGCCGCCCATGCTCTCAGCC
TTTCTCCCTCCCCCGTCTCATTCCAAGGCTGAGGGAGGGCCTTCTCGCCTGGGGACGCAGCCACTTTCTCCAGTGGAGACAGGGCAGGGG
TTCTGAGTTTCCGTCAGATGCAGTGAAATCACAGTTCCCTTTCATCTTCAGAACCTCTGTCGTGAATGTGTTCAAGAGGCTTTGGTTAAG
TCAGGAAGAAGTGCCCAGGGTGTGTGTCCCCAGTCTCCCTGAGGCCTGGACTCGCCCATGAACCCAAGTCGGCTTCTAGACAGCATGTCC
CTAACAGCAGCCCTGGGCCCCCACCTCTTCTACCATCCACCCCAGACTTACCACACACCCTTCCTGCTGCTCCTCTTCCTGCCCTTATCA
ACCTGGGTCCCTCACACTTCGCCAGTTGCGTCCCCGTGGACAGTCATGAGTCTAGAGGAAAGGGGCATCTGGTCTCAGGCCCGTGCTCTC
GGGTGGCCTCCACCTGCTCCCTCTCTCCTCACTGGCCTTTCTTTCCGTCTAGCTTCCTCTTCAGGAAATGTCCTGACTCCCCTCAGCTCC
CCCTTCACCCCTCCTTGCCCGCCTACCCTCCCTCCAGAATAGCCCCTCACCCTTCTTCCCCTTCTAGTTGATCCTTTTCACCTCCCTGAT
CCCCTTCATTTCTTCACCGCGGTTCCTCGTCATAGGGGTTCTCACTCTGAACTTTCCCTCTCTACTACCCATGGCAGGAACCTAGTACAG
GTCTCCCACCCAGGGCCTTCCACCCTCGGCTCCTGTGCTGGGAGAAACTTCCAGGCGTGGACAGCCCAGCCTGAGGCATTCCAGTGCTGG
GGCACCGTCGCCTAACCTGGTTTCTAGCTTTGCCCTCACTCCCCGGAAAAACTGACACTGACACAGGGGCCCTTTCCTTGCCCCTTTAGC
TGGTACCTCAGTGGGGAGGCTTCCTTACCAAGAATGAGTTCCTGAAACCCAGGGCCAGAGACAAGGACAACTTAGGGGAAGACGGGGTTT
TCGGTGGAGCCAGGGGCAAATCTTAATGGGACCAGTGGGGGATACCCCAGAGCCCATGGCCTGACTGCACAGCCTGCCTGGAGGATGGGT
GCGCAGCTCTGCCCTCCCTGAGGCCCAGGACTATGCCAGAAGCGATGGGGTACCGTGTAGGGGAGCCAAGGCCAGTAGTTTGGGGGTAGG
AGTCCCCTAGAGTCTCAGAAGACTGGGCTCTTTGGAGTACAGGGTCCCCGGCCTCTCCTTTAAGATTCTCTCCCCAGCTGGAAGGCCGAT
GACTGGGTGGTCGGGAGGGAGACCCAGCTCTCCTTTCTGTCCCGTTTGCAGCACTGGTTTTGTTTCCTTAATAAATTTTTAGTTATGAAA

>In-frame_VPS53_ENST00000571805_chr17_600658_-_SMG6_ENST00000263073_chr17_1989195_-_2974nt
AGCGGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGGCGGCTGGAGG
CCTGAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAG
CCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTG
TTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGAC
TGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCA
CAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCTCTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCG
TCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGACTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGG
AAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAGCTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGC
AGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGTCAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCG
TACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGGCTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCG
TGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCACCGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCA
AGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGCCTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCG
CCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGATCTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTA
AGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGGGAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGG
CGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACGTGGGCCCAGGTGGGCTGAGGGAGCCACACTGGGGCCCCCCCCC
CGTGGAACCGTTCCTGAAAGGCCACCAGGCGCCCAGTGTAGCACGGAAGATGCCCACGTGCCTGAGCCACCAATCCACCCAGACAATAAA
CCATCCTCTTCCAACCCACGCCACGGCCATGCTGTGGGGGACCTGCTCCTCACAGAGCCCCTCCCAAGGATCGGGCGGAAGCTGCTGGGA
CCCTCCTGGGCTGCCAGGATTTAGCAGGGAGGTGGCTGGCTACAGCAACAGCAGCTGGGCAAGCCAGATAGGCCGCCCATGCTCTCAGCC
TTTCTCCCTCCCCCGTCTCATTCCAAGGCTGAGGGAGGGCCTTCTCGCCTGGGGACGCAGCCACTTTCTCCAGTGGAGACAGGGCAGGGG
TTCTGAGTTTCCGTCAGATGCAGTGAAATCACAGTTCCCTTTCATCTTCAGAACCTCTGTCGTGAATGTGTTCAAGAGGCTTTGGTTAAG
TCAGGAAGAAGTGCCCAGGGTGTGTGTCCCCAGTCTCCCTGAGGCCTGGACTCGCCCATGAACCCAAGTCGGCTTCTAGACAGCATGTCC
CTAACAGCAGCCCTGGGCCCCCACCTCTTCTACCATCCACCCCAGACTTACCACACACCCTTCCTGCTGCTCCTCTTCCTGCCCTTATCA
ACCTGGGTCCCTCACACTTCGCCAGTTGCGTCCCCGTGGACAGTCATGAGTCTAGAGGAAAGGGGCATCTGGTCTCAGGCCCGTGCTCTC
GGGTGGCCTCCACCTGCTCCCTCTCTCCTCACTGGCCTTTCTTTCCGTCTAGCTTCCTCTTCAGGAAATGTCCTGACTCCCCTCAGCTCC
CCCTTCACCCCTCCTTGCCCGCCTACCCTCCCTCCAGAATAGCCCCTCACCCTTCTTCCCCTTCTAGTTGATCCTTTTCACCTCCCTGAT
CCCCTTCATTTCTTCACCGCGGTTCCTCGTCATAGGGGTTCTCACTCTGAACTTTCCCTCTCTACTACCCATGGCAGGAACCTAGTACAG
GTCTCCCACCCAGGGCCTTCCACCCTCGGCTCCTGTGCTGGGAGAAACTTCCAGGCGTGGACAGCCCAGCCTGAGGCATTCCAGTGCTGG
GGCACCGTCGCCTAACCTGGTTTCTAGCTTTGCCCTCACTCCCCGGAAAAACTGACACTGACACAGGGGCCCTTTCCTTGCCCCTTTAGC
TGGTACCTCAGTGGGGAGGCTTCCTTACCAAGAATGAGTTCCTGAAACCCAGGGCCAGAGACAAGGACAACTTAGGGGAAGACGGGGTTT
TCGGTGGAGCCAGGGGCAAATCTTAATGGGACCAGTGGGGGATACCCCAGAGCCCATGGCCTGACTGCACAGCCTGCCTGGAGGATGGGT
GCGCAGCTCTGCCCTCCCTGAGGCCCAGGACTATGCCAGAAGCGATGGGGTACCGTGTAGGGGAGCCAAGGCCAGTAGTTTGGGGGTAGG
AGTCCCCTAGAGTCTCAGAAGACTGGGCTCTTTGGAGTACAGGGTCCCCGGCCTCTCCTTTAAGATTCTCTCCCCAGCTGGAAGGCCGAT
GACTGGGTGGTCGGGAGGGAGACCCAGCTCTCCTTTCTGTCCCGTTTGCAGCACTGGTTTTGTTTCCTTAATAAATTTTTAGTTATGAAA

>In-frame_VPS53_ENST00000571805_chr17_600658_-_SMG6_ENST00000354901_chr17_1989195_-_2967nt
AGCGGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGGCGGCTGGAGG
CCTGAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAG
CCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTG
TTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGAC
TGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCA
CAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCTCTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCG
TCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGACTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGG
AAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAGCTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGC
AGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGTCAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCG
TACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGGCTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCG
TGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCACCGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCA
AGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGCCTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCG
CCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGATCTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTA
AGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGGGAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGG
CGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACGTGGGCCCAGGTGGGCTGAGGGAGCCACACTGGGGCCCCCCCCC
CGTGGAACCGTTCCTGAAAGGCCACCAGGCGCCCAGTGTAGCACGGAAGATGCCCACGTGCCTGAGCCACCAATCCACCCAGACAATAAA
CCATCCTCTTCCAACCCACGCCACGGCCATGCTGTGGGGGACCTGCTCCTCACAGAGCCCCTCCCAAGGATCGGGCGGAAGCTGCTGGGA
CCCTCCTGGGCTGCCAGGATTTAGCAGGGAGGTGGCTGGCTACAGCAACAGCAGCTGGGCAAGCCAGATAGGCCGCCCATGCTCTCAGCC
TTTCTCCCTCCCCCGTCTCATTCCAAGGCTGAGGGAGGGCCTTCTCGCCTGGGGACGCAGCCACTTTCTCCAGTGGAGACAGGGCAGGGG
TTCTGAGTTTCCGTCAGATGCAGTGAAATCACAGTTCCCTTTCATCTTCAGAACCTCTGTCGTGAATGTGTTCAAGAGGCTTTGGTTAAG
TCAGGAAGAAGTGCCCAGGGTGTGTGTCCCCAGTCTCCCTGAGGCCTGGACTCGCCCATGAACCCAAGTCGGCTTCTAGACAGCATGTCC
CTAACAGCAGCCCTGGGCCCCCACCTCTTCTACCATCCACCCCAGACTTACCACACACCCTTCCTGCTGCTCCTCTTCCTGCCCTTATCA
ACCTGGGTCCCTCACACTTCGCCAGTTGCGTCCCCGTGGACAGTCATGAGTCTAGAGGAAAGGGGCATCTGGTCTCAGGCCCGTGCTCTC
GGGTGGCCTCCACCTGCTCCCTCTCTCCTCACTGGCCTTTCTTTCCGTCTAGCTTCCTCTTCAGGAAATGTCCTGACTCCCCTCAGCTCC
CCCTTCACCCCTCCTTGCCCGCCTACCCTCCCTCCAGAATAGCCCCTCACCCTTCTTCCCCTTCTAGTTGATCCTTTTCACCTCCCTGAT
CCCCTTCATTTCTTCACCGCGGTTCCTCGTCATAGGGGTTCTCACTCTGAACTTTCCCTCTCTACTACCCATGGCAGGAACCTAGTACAG
GTCTCCCACCCAGGGCCTTCCACCCTCGGCTCCTGTGCTGGGAGAAACTTCCAGGCGTGGACAGCCCAGCCTGAGGCATTCCAGTGCTGG
GGCACCGTCGCCTAACCTGGTTTCTAGCTTTGCCCTCACTCCCCGGAAAAACTGACACTGACACAGGGGCCCTTTCCTTGCCCCTTTAGC
TGGTACCTCAGTGGGGAGGCTTCCTTACCAAGAATGAGTTCCTGAAACCCAGGGCCAGAGACAAGGACAACTTAGGGGAAGACGGGGTTT
TCGGTGGAGCCAGGGGCAAATCTTAATGGGACCAGTGGGGGATACCCCAGAGCCCATGGCCTGACTGCACAGCCTGCCTGGAGGATGGGT
GCGCAGCTCTGCCCTCCCTGAGGCCCAGGACTATGCCAGAAGCGATGGGGTACCGTGTAGGGGAGCCAAGGCCAGTAGTTTGGGGGTAGG
AGTCCCCTAGAGTCTCAGAAGACTGGGCTCTTTGGAGTACAGGGTCCCCGGCCTCTCCTTTAAGATTCTCTCCCCAGCTGGAAGGCCGAT

>In-frame_VPS53_ENST00000571805_chr17_600658_-_SMG6_ENST00000536871_chr17_1989195_-_1412nt
AGCGGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGGCGGCTGGAGG
CCTGAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAG
CCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTG
TTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGAC
TGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCA
CAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCTCTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCG
TCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGACTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGG
AAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAGCTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGC
AGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGTCAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCG
TACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGGCTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCG
TGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCACCGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCA
AGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGCCTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCG
CCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGATCTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTA
AGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGGGAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGG
CGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACGTGGGCCCAGGTGGGCTGAGGGAGCCACACTGGGGCCCCCCCCC

>In-frame_VPS53_ENST00000401468_chr17_600658_-_SMG6_ENST00000544865_chr17_1989195_-_2841nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG
TGGGCCCAGGTGGGCTGAGGGAGCCACACTGGGGCCCCCCCCCCGTGGAACCGTTCCTGAAAGGCCACCAGGCGCCCAGTGTAGCACGGA
AGATGCCCACGTGCCTGAGCCACCAATCCACCCAGACAATAAACCATCCTCTTCCAACCCACGCCACGGCCATGCTGTGGGGGACCTGCT
CCTCACAGAGCCCCTCCCAAGGATCGGGCGGAAGCTGCTGGGACCCTCCTGGGCTGCCAGGATTTAGCAGGGAGGTGGCTGGCTACAGCA
ACAGCAGCTGGGCAAGCCAGATAGGCCGCCCATGCTCTCAGCCTTTCTCCCTCCCCCGTCTCATTCCAAGGCTGAGGGAGGGCCTTCTCG
CCTGGGGACGCAGCCACTTTCTCCAGTGGAGACAGGGCAGGGGTTCTGAGTTTCCGTCAGATGCAGTGAAATCACAGTTCCCTTTCATCT
TCAGAACCTCTGTCGTGAATGTGTTCAAGAGGCTTTGGTTAAGTCAGGAAGAAGTGCCCAGGGTGTGTGTCCCCAGTCTCCCTGAGGCCT
GGACTCGCCCATGAACCCAAGTCGGCTTCTAGACAGCATGTCCCTAACAGCAGCCCTGGGCCCCCACCTCTTCTACCATCCACCCCAGAC
TTACCACACACCCTTCCTGCTGCTCCTCTTCCTGCCCTTATCAACCTGGGTCCCTCACACTTCGCCAGTTGCGTCCCCGTGGACAGTCAT
GAGTCTAGAGGAAAGGGGCATCTGGTCTCAGGCCCGTGCTCTCGGGTGGCCTCCACCTGCTCCCTCTCTCCTCACTGGCCTTTCTTTCCG
TCTAGCTTCCTCTTCAGGAAATGTCCTGACTCCCCTCAGCTCCCCCTTCACCCCTCCTTGCCCGCCTACCCTCCCTCCAGAATAGCCCCT
CACCCTTCTTCCCCTTCTAGTTGATCCTTTTCACCTCCCTGATCCCCTTCATTTCTTCACCGCGGTTCCTCGTCATAGGGGTTCTCACTC
TGAACTTTCCCTCTCTACTACCCATGGCAGGAACCTAGTACAGGTCTCCCACCCAGGGCCTTCCACCCTCGGCTCCTGTGCTGGGAGAAA
CTTCCAGGCGTGGACAGCCCAGCCTGAGGCATTCCAGTGCTGGGGCACCGTCGCCTAACCTGGTTTCTAGCTTTGCCCTCACTCCCCGGA
AAAACTGACACTGACACAGGGGCCCTTTCCTTGCCCCTTTAGCTGGTACCTCAGTGGGGAGGCTTCCTTACCAAGAATGAGTTCCTGAAA
CCCAGGGCCAGAGACAAGGACAACTTAGGGGAAGACGGGGTTTTCGGTGGAGCCAGGGGCAAATCTTAATGGGACCAGTGGGGGATACCC
CAGAGCCCATGGCCTGACTGCACAGCCTGCCTGGAGGATGGGTGCGCAGCTCTGCCCTCCCTGAGGCCCAGGACTATGCCAGAAGCGATG
GGGTACCGTGTAGGGGAGCCAAGGCCAGTAGTTTGGGGGTAGGAGTCCCCTAGAGTCTCAGAAGACTGGGCTCTTTGGAGTACAGGGTCC
CCGGCCTCTCCTTTAAGATTCTCTCCCCAGCTGGAAGGCCGATGACTGGGTGGTCGGGAGGGAGACCCAGCTCTCCTTTCTGTCCCGTTT

>In-frame_VPS53_ENST00000401468_chr17_600658_-_SMG6_ENST00000263073_chr17_1989195_-_2837nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG
TGGGCCCAGGTGGGCTGAGGGAGCCACACTGGGGCCCCCCCCCCGTGGAACCGTTCCTGAAAGGCCACCAGGCGCCCAGTGTAGCACGGA
AGATGCCCACGTGCCTGAGCCACCAATCCACCCAGACAATAAACCATCCTCTTCCAACCCACGCCACGGCCATGCTGTGGGGGACCTGCT
CCTCACAGAGCCCCTCCCAAGGATCGGGCGGAAGCTGCTGGGACCCTCCTGGGCTGCCAGGATTTAGCAGGGAGGTGGCTGGCTACAGCA
ACAGCAGCTGGGCAAGCCAGATAGGCCGCCCATGCTCTCAGCCTTTCTCCCTCCCCCGTCTCATTCCAAGGCTGAGGGAGGGCCTTCTCG
CCTGGGGACGCAGCCACTTTCTCCAGTGGAGACAGGGCAGGGGTTCTGAGTTTCCGTCAGATGCAGTGAAATCACAGTTCCCTTTCATCT
TCAGAACCTCTGTCGTGAATGTGTTCAAGAGGCTTTGGTTAAGTCAGGAAGAAGTGCCCAGGGTGTGTGTCCCCAGTCTCCCTGAGGCCT
GGACTCGCCCATGAACCCAAGTCGGCTTCTAGACAGCATGTCCCTAACAGCAGCCCTGGGCCCCCACCTCTTCTACCATCCACCCCAGAC
TTACCACACACCCTTCCTGCTGCTCCTCTTCCTGCCCTTATCAACCTGGGTCCCTCACACTTCGCCAGTTGCGTCCCCGTGGACAGTCAT
GAGTCTAGAGGAAAGGGGCATCTGGTCTCAGGCCCGTGCTCTCGGGTGGCCTCCACCTGCTCCCTCTCTCCTCACTGGCCTTTCTTTCCG
TCTAGCTTCCTCTTCAGGAAATGTCCTGACTCCCCTCAGCTCCCCCTTCACCCCTCCTTGCCCGCCTACCCTCCCTCCAGAATAGCCCCT
CACCCTTCTTCCCCTTCTAGTTGATCCTTTTCACCTCCCTGATCCCCTTCATTTCTTCACCGCGGTTCCTCGTCATAGGGGTTCTCACTC
TGAACTTTCCCTCTCTACTACCCATGGCAGGAACCTAGTACAGGTCTCCCACCCAGGGCCTTCCACCCTCGGCTCCTGTGCTGGGAGAAA
CTTCCAGGCGTGGACAGCCCAGCCTGAGGCATTCCAGTGCTGGGGCACCGTCGCCTAACCTGGTTTCTAGCTTTGCCCTCACTCCCCGGA
AAAACTGACACTGACACAGGGGCCCTTTCCTTGCCCCTTTAGCTGGTACCTCAGTGGGGAGGCTTCCTTACCAAGAATGAGTTCCTGAAA
CCCAGGGCCAGAGACAAGGACAACTTAGGGGAAGACGGGGTTTTCGGTGGAGCCAGGGGCAAATCTTAATGGGACCAGTGGGGGATACCC
CAGAGCCCATGGCCTGACTGCACAGCCTGCCTGGAGGATGGGTGCGCAGCTCTGCCCTCCCTGAGGCCCAGGACTATGCCAGAAGCGATG
GGGTACCGTGTAGGGGAGCCAAGGCCAGTAGTTTGGGGGTAGGAGTCCCCTAGAGTCTCAGAAGACTGGGCTCTTTGGAGTACAGGGTCC
CCGGCCTCTCCTTTAAGATTCTCTCCCCAGCTGGAAGGCCGATGACTGGGTGGTCGGGAGGGAGACCCAGCTCTCCTTTCTGTCCCGTTT

>In-frame_VPS53_ENST00000401468_chr17_600658_-_SMG6_ENST00000354901_chr17_1989195_-_2830nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG
TGGGCCCAGGTGGGCTGAGGGAGCCACACTGGGGCCCCCCCCCCGTGGAACCGTTCCTGAAAGGCCACCAGGCGCCCAGTGTAGCACGGA
AGATGCCCACGTGCCTGAGCCACCAATCCACCCAGACAATAAACCATCCTCTTCCAACCCACGCCACGGCCATGCTGTGGGGGACCTGCT
CCTCACAGAGCCCCTCCCAAGGATCGGGCGGAAGCTGCTGGGACCCTCCTGGGCTGCCAGGATTTAGCAGGGAGGTGGCTGGCTACAGCA
ACAGCAGCTGGGCAAGCCAGATAGGCCGCCCATGCTCTCAGCCTTTCTCCCTCCCCCGTCTCATTCCAAGGCTGAGGGAGGGCCTTCTCG
CCTGGGGACGCAGCCACTTTCTCCAGTGGAGACAGGGCAGGGGTTCTGAGTTTCCGTCAGATGCAGTGAAATCACAGTTCCCTTTCATCT
TCAGAACCTCTGTCGTGAATGTGTTCAAGAGGCTTTGGTTAAGTCAGGAAGAAGTGCCCAGGGTGTGTGTCCCCAGTCTCCCTGAGGCCT
GGACTCGCCCATGAACCCAAGTCGGCTTCTAGACAGCATGTCCCTAACAGCAGCCCTGGGCCCCCACCTCTTCTACCATCCACCCCAGAC
TTACCACACACCCTTCCTGCTGCTCCTCTTCCTGCCCTTATCAACCTGGGTCCCTCACACTTCGCCAGTTGCGTCCCCGTGGACAGTCAT
GAGTCTAGAGGAAAGGGGCATCTGGTCTCAGGCCCGTGCTCTCGGGTGGCCTCCACCTGCTCCCTCTCTCCTCACTGGCCTTTCTTTCCG
TCTAGCTTCCTCTTCAGGAAATGTCCTGACTCCCCTCAGCTCCCCCTTCACCCCTCCTTGCCCGCCTACCCTCCCTCCAGAATAGCCCCT
CACCCTTCTTCCCCTTCTAGTTGATCCTTTTCACCTCCCTGATCCCCTTCATTTCTTCACCGCGGTTCCTCGTCATAGGGGTTCTCACTC
TGAACTTTCCCTCTCTACTACCCATGGCAGGAACCTAGTACAGGTCTCCCACCCAGGGCCTTCCACCCTCGGCTCCTGTGCTGGGAGAAA
CTTCCAGGCGTGGACAGCCCAGCCTGAGGCATTCCAGTGCTGGGGCACCGTCGCCTAACCTGGTTTCTAGCTTTGCCCTCACTCCCCGGA
AAAACTGACACTGACACAGGGGCCCTTTCCTTGCCCCTTTAGCTGGTACCTCAGTGGGGAGGCTTCCTTACCAAGAATGAGTTCCTGAAA
CCCAGGGCCAGAGACAAGGACAACTTAGGGGAAGACGGGGTTTTCGGTGGAGCCAGGGGCAAATCTTAATGGGACCAGTGGGGGATACCC
CAGAGCCCATGGCCTGACTGCACAGCCTGCCTGGAGGATGGGTGCGCAGCTCTGCCCTCCCTGAGGCCCAGGACTATGCCAGAAGCGATG
GGGTACCGTGTAGGGGAGCCAAGGCCAGTAGTTTGGGGGTAGGAGTCCCCTAGAGTCTCAGAAGACTGGGCTCTTTGGAGTACAGGGTCC
CCGGCCTCTCCTTTAAGATTCTCTCCCCAGCTGGAAGGCCGATGACTGGGTGGTCGGGAGGGAGACCCAGCTCTCCTTTCTGTCCCGTTT

>In-frame_VPS53_ENST00000401468_chr17_600658_-_SMG6_ENST00000536871_chr17_1989195_-_1275nt
ATGATGGAGGAGGAGGAACTGGAGTTCGTGGAGGAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTG
TTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAAC
ATAGACGAAGTCGTGAACAAAATTAGGCTGAAAATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGG
CAGGATGGACGGCAAGTTATTGCAGCTGACTGCAAAAGGGTCACAGTGCTGAAGTATTTTCTGGAAGCCCTTTGTGGACAAGAAGAGCCT
CTGCTGGCATTCAAGGGTGGAAAGTATGTGTCAGTGGCACCCGTCCCAGACACCATGGGAAAGGAAATGGGAAGCCAAGAGGGAACACGA
CTGGAAGATGAGGAGGAGGATGTGGTGATTGAAGACTTTGAGGAAGATTCAGAGGCTGAAGGCAGCGGAGGCGAGGATGACATCAGGGAG
CTTCGGGCCAAGAAGCTGGCTCTGGCCAGGAAGATAGCTGAGCAGCAGCGTCGCCAGGAAAAGATCCAGGCTGTCCTGGAGGACCACAGT
CAGATGAGGCAGATGGAGCTCGAAATCAGACCTTTGTTCCTCGTACCAGACACCAACGGCTTCATTGACCACCTGGCCAGTCTGGCGCGG
CTGCTGGAGAGCAGGAAGTACATCCTGGTGGTGCCCCTCATCGTGATCAATGAGCTGGACGGCCTGGCCAAGGGGCAGGAGACAGACCAC
CGGGCTGGGGGCTACGCCCGTGTGGTACAAGAGAAGGCCCGCAAGTCCATCGAGTTCCTCGAGCAGCGATTCGAGAGTCGGGACTCTTGC
CTGCGAGCCCTGACCAGCCGTGGCAATGAACTCGAATCCATCGCCTTCCGCAGTGAGGACATCACTGGCCAGCTGGGTAACAACGATGAT
CTCATCCTGTCCTGCTGCCTCCACTACTGCAAAGACAAGGCTAAGGACTTCATGCCCGCCAGCAAAGAGGAGCCAATCCGGCTACTGCGG
GAGGTGGTGCTGTTGACGGATGACCGGAACCTGCGTGTGAAGGCGCTCACAAGGAATGTTCCTGTACGGGACATCCCAGCCTTCCTCACG
TGGGCCCAGGTGGGCTGAGGGAGCCACACTGGGGCCCCCCCCCCGTGGAACCGTTCCTGAAAGGCCACCAGGCGCCCAGTGTAGCACGGA


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FusionGenePPI for VPS53_SMG6


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
VPS53VPS52, VPS51, EXOC2, VPS53, VPS54, STX6, VAMP4, THOC2, THOC1, USP7, TXNDC9, VCP, SNAP29, BSG, PSMD7, CCDC132, DTNBP1, TSSC1, C10orf76, PTAR1, RAB1A, CCDC40, EXOC1, EXOC6, SYCE3, PRAF2, CEP170, PKN3, NCKAP5L, TFPT, CCHCR1, YEATS4, TUFT1, RABGAP1L, GOLGA5, CLOCK, PSMD9, DZIP3, GRIPAP1, RCOR1, HMG20A, CCDC93, OIP5, PHF21A, PTRF, PHLDB3, HAUS6, GIT2, RPRD1A, ARNTL, MAX, RABGEF1, NUF2, THAP11, KDM1A, RABEP1, TRIM25SMG6TERT, HDAC8, UPF1, HBB, PPP1CC, SOX2, RBM8A, MAGOH, PABPC1, SMG6, UPF3B, SMG5, SMG7, PSG1, C2orf68, FAM221B, SPATA1, HAO2, LPIN3, TRIM25


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
TgeneSMG6chr17:600658chr17:1989195ENST00000263073-1219114_50311191420telomeric DNA
TgeneSMG6chr17:600658chr17:1989195ENST00000354901-512114_503211512telomeric DNA
TgeneSMG6chr17:600658chr17:1989195ENST00000536871-411114_503211512telomeric DNA
TgeneSMG6chr17:600658chr17:1989195ENST00000544865-1219114_50310881389telomeric DNA


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


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RelatedDrugs for VPS53_SMG6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for VPS53_SMG6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVPS53C4014488PONTOCEREBELLAR HYPOPLASIA, TYPE 2E1UNIPROT