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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PMM2-UBFD1 (FusionGDB2 ID:66650)

Fusion Gene Summary for PMM2-UBFD1

check button Fusion gene summary
Fusion gene informationFusion gene name: PMM2-UBFD1
Fusion gene ID: 66650
HgeneTgene
Gene symbol

PMM2

UBFD1

Gene ID

5373

56061

Gene namephosphomannomutase 2ubiquitin family domain containing 1
SynonymsCDG1|CDG1a|CDGS|PMI|PMI1|PMM 2UBPH
Cytomap

16p13.2

16p12.2

Type of geneprotein-codingprotein-coding
Descriptionphosphomannomutase 2mannose-6-phosphate isomerasephosphomannose isomerase 1ubiquitin domain-containing protein UBFD1ubiquitin-binding protein homolog
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000268261, ENST00000537352, 
ENST00000539622, ENST00000566983, 
ENST00000569958, ENST00000565837, 
ENST00000571064, ENST00000567264, 
ENST00000219638, ENST00000395878, 
ENST00000567212, 
Fusion gene scores* DoF score7 X 4 X 4=1122 X 2 X 1=4
# samples 72
** MAII scorelog2(7/112*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: PMM2 [Title/Abstract] AND UBFD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPMM2(8906963)-UBFD1(23573527), # samples:3
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

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

check buttonFusion gene breakpoints across PMM2 (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 UBFD1 (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
ChimerDB4BRCATCGA-E9-A5FL-01APMM2chr16

8906963

-UBFD1chr16

23573527

+
ChimerDB4BRCATCGA-E9-A5FL-01APMM2chr16

8906963

+UBFD1chr16

23573527

+


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Fusion Gene ORF analysis for PMM2-UBFD1

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-3UTRENST00000268261ENST00000571064PMM2chr16

8906963

+UBFD1chr16

23573527

+
5CDS-3UTRENST00000537352ENST00000571064PMM2chr16

8906963

+UBFD1chr16

23573527

+
5CDS-3UTRENST00000539622ENST00000571064PMM2chr16

8906963

+UBFD1chr16

23573527

+
5CDS-3UTRENST00000566983ENST00000571064PMM2chr16

8906963

+UBFD1chr16

23573527

+
5CDS-3UTRENST00000569958ENST00000571064PMM2chr16

8906963

+UBFD1chr16

23573527

+
5CDS-intronENST00000268261ENST00000567264PMM2chr16

8906963

+UBFD1chr16

23573527

+
5CDS-intronENST00000537352ENST00000567264PMM2chr16

8906963

+UBFD1chr16

23573527

+
5CDS-intronENST00000539622ENST00000567264PMM2chr16

8906963

+UBFD1chr16

23573527

+
5CDS-intronENST00000566983ENST00000567264PMM2chr16

8906963

+UBFD1chr16

23573527

+
5CDS-intronENST00000569958ENST00000567264PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000268261ENST00000219638PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000268261ENST00000395878PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000268261ENST00000567212PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000537352ENST00000219638PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000537352ENST00000395878PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000537352ENST00000567212PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000539622ENST00000219638PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000539622ENST00000395878PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000539622ENST00000567212PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000566983ENST00000219638PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000566983ENST00000395878PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000566983ENST00000567212PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000569958ENST00000219638PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000569958ENST00000395878PMM2chr16

8906963

+UBFD1chr16

23573527

+
In-frameENST00000569958ENST00000567212PMM2chr16

8906963

+UBFD1chr16

23573527

+
intron-3CDSENST00000565837ENST00000219638PMM2chr16

8906963

+UBFD1chr16

23573527

+
intron-3CDSENST00000565837ENST00000395878PMM2chr16

8906963

+UBFD1chr16

23573527

+
intron-3CDSENST00000565837ENST00000567212PMM2chr16

8906963

+UBFD1chr16

23573527

+
intron-3UTRENST00000565837ENST00000571064PMM2chr16

8906963

+UBFD1chr16

23573527

+
intron-intronENST00000565837ENST00000567264PMM2chr16

8906963

+UBFD1chr16

23573527

+

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)
ENST00000566983PMM2chr168906963+ENST00000219638UBFD1chr1623573527+13967622041127307
ENST00000566983PMM2chr168906963+ENST00000395878UBFD1chr1623573527+49277622041127307
ENST00000566983PMM2chr168906963+ENST00000567212UBFD1chr1623573527+49257622041127307
ENST00000268261PMM2chr168906963+ENST00000219638UBFD1chr1623573527+1339705661070334
ENST00000268261PMM2chr168906963+ENST00000395878UBFD1chr1623573527+4870705661070334
ENST00000268261PMM2chr168906963+ENST00000567212UBFD1chr1623573527+4868705661070334
ENST00000539622PMM2chr168906963+ENST00000219638UBFD1chr1623573527+1237603186968260
ENST00000539622PMM2chr168906963+ENST00000395878UBFD1chr1623573527+4768603186968260
ENST00000539622PMM2chr168906963+ENST00000567212UBFD1chr1623573527+4766603186968260
ENST00000537352PMM2chr168906963+ENST00000219638UBFD1chr1623573527+1120486222851209
ENST00000537352PMM2chr168906963+ENST00000395878UBFD1chr1623573527+4651486222851209
ENST00000537352PMM2chr168906963+ENST00000567212UBFD1chr1623573527+4649486222851209
ENST00000569958PMM2chr168906963+ENST00000219638UBFD1chr1623573527+101638216747243
ENST00000569958PMM2chr168906963+ENST00000395878UBFD1chr1623573527+454738216747243
ENST00000569958PMM2chr168906963+ENST00000567212UBFD1chr1623573527+454538216747243

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
ENST00000566983ENST00000219638PMM2chr168906963+UBFD1chr1623573527+0.0001966170.99980336
ENST00000566983ENST00000395878PMM2chr168906963+UBFD1chr1623573527+0.0001952340.9998048
ENST00000566983ENST00000567212PMM2chr168906963+UBFD1chr1623573527+0.0002080510.9997919
ENST00000268261ENST00000219638PMM2chr168906963+UBFD1chr1623573527+0.0003916320.99960834
ENST00000268261ENST00000395878PMM2chr168906963+UBFD1chr1623573527+0.0003952780.99960476
ENST00000268261ENST00000567212PMM2chr168906963+UBFD1chr1623573527+0.0004129070.9995871
ENST00000539622ENST00000219638PMM2chr168906963+UBFD1chr1623573527+0.0008422240.9991578
ENST00000539622ENST00000395878PMM2chr168906963+UBFD1chr1623573527+0.0006536510.9993463
ENST00000539622ENST00000567212PMM2chr168906963+UBFD1chr1623573527+0.0007574050.99924266
ENST00000537352ENST00000219638PMM2chr168906963+UBFD1chr1623573527+0.0009660940.9990339
ENST00000537352ENST00000395878PMM2chr168906963+UBFD1chr1623573527+0.0008205380.9991794
ENST00000537352ENST00000567212PMM2chr168906963+UBFD1chr1623573527+0.0010752880.9989247
ENST00000569958ENST00000219638PMM2chr168906963+UBFD1chr1623573527+0.0007760340.99922395
ENST00000569958ENST00000395878PMM2chr168906963+UBFD1chr1623573527+0.0006862460.9993137
ENST00000569958ENST00000567212PMM2chr168906963+UBFD1chr1623573527+0.0008098530.99919015

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Fusion Genomic Features for PMM2-UBFD1


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)
PMM2chr168906963+UBFD1chr1623573526+0.0002017530.99979824
PMM2chr168906963+UBFD1chr1623573526+0.0002017530.99979824

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for PMM2-UBFD1


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/chr16:8906963/chr16:23573527)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneUBFD1chr16:8906963chr16:23573527ENST000002196382784_159412534.0DomainUbiquitin-like
TgeneUBFD1chr16:8906963chr16:23573527ENST000003958782784_159188310.0DomainUbiquitin-like


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Fusion Gene Sequence for PMM2-UBFD1


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.
>66650_66650_1_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000268261_UBFD1_chr16_23573527_ENST00000219638_length(transcript)=1339nt_BP=705nt
CCGGAAGTTCCGGGCCGAGTTCCTCGTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTC
TGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAG
ATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTT
CCAGAAAATGGCTTGGTAGCATACAAAGATGGGAAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGAT
TTAATCAACTACTGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAAC
GTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTA
GCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGAC
AAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCACAACACAGGAAAGTG
TTGGATAAAGGAAAACCTGAAGATGTGATGCCATCTGTTAAGGGGGCCCAGGAGCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAAT
AAATCTGGAGGAAAAGTGAGACTCACCTTTAAACTAGAACAAGACCAGCTGTGGATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATG
GGCTCCATAAAAAATGTGGTCAGTGAACCTATCGAAGGACATGAAGACTACCACATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCT
TACTACTGGGTGTACTGGGTTCCAACTCAATATGTGGATGCAATCAAAGACACTGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTT
CACCTCTGGCCCAGGAGACTGACCCAAAGTGAAGGACATTGCCGGGAGAGGCCTGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGT
TCATAAAAAATCTATATTCAATCTGAGGTGATGTGGTGACTGAAGCCAGAGGTGATGTACTTTCACCATTAGCTTAATTTTAACTTAAAA

>66650_66650_1_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000268261_UBFD1_chr16_23573527_ENST00000219638_length(amino acids)=334AA_BP=213
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSH
LGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF
DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPQHRKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKVRLTFKLEQDQLWIGTK

--------------------------------------------------------------
>66650_66650_2_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000268261_UBFD1_chr16_23573527_ENST00000395878_length(transcript)=4870nt_BP=705nt
CCGGAAGTTCCGGGCCGAGTTCCTCGTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTC
TGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAG
ATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTT
CCAGAAAATGGCTTGGTAGCATACAAAGATGGGAAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGAT
TTAATCAACTACTGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAAC
GTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTA
GCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGAC
AAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCACAACACAGGAAAGTG
TTGGATAAAGGAAAACCTGAAGATGTGATGCCATCTGTTAAGGGGGCCCAGGAGCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAAT
AAATCTGGAGGAAAAGTGAGACTCACCTTTAAACTAGAACAAGACCAGCTGTGGATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATG
GGCTCCATAAAAAATGTGGTCAGTGAACCTATCGAAGGACATGAAGACTACCACATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCT
TACTACTGGGTGTACTGGGTTCCAACTCAATATGTGGATGCAATCAAAGACACTGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTT
CACCTCTGGCCCAGGAGACTGACCCAAAGTGAAGGACATTGCCGGGAGAGGCCTGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGT
TCATAAAAAATCTATATTCAATCTGAGGTGATGTGGTGACTGAAGCCAGAGGTGATGTACTTTCACCATTAGCTTAATTTTAACTTAAAA
TTACCAGTTCCCTTTCTTGCAGTCAGCTTCATACCATTTTTAAAGTCAATACGATGGAAATCAATAAATCTGAATTCCGAACATGTTGTG
TGGAATACTCTTAAGTGTGTTTGAGAGTAGATCTGCCAATTATGTTGACAAGGGAATGATCAAAAGCTTTGTTTTTTTTAAAAAAAAAAA
AAGCAGTTTCAATTGAAATATTTTCATACATCTTTGGTTGCAAACATTTGGACTGCATTGCAATGAGTTGGGGTGTTTTTTTTTTCCTTT
TTTGTATAAAATTGTATGCAAAATGGGGGTGGGTTAGTAAGCCACATATTTCTGTCCATTGATTCAGATTTAATTCTTTCCCTTTTTCAT
TCTCTCGCTTCCTCAATTTGAGTTTTTGTTTTAAGAACCCAAAGATGTCAGTTCTTCTTTTGGTACCTCATCAACGCTTCCTTTCCTGGG
CTCCCTCCCGCCGTGCTGCTGCTGCCTGTGAACGCACGGTGGGAGAGGAAGAGCTGCTCAGTCTTGGGCAAGGAGCTCTCACACTTGCTG
TGGTGTTCGTTGAGCAGCAGAGTATCTCCCAGTGACTCCTGTTTAAATGTCTTGCCCTTTGGGCCCCCATCTCCAAGGAGTTCCATTGCT
GGTTGGATGATTGTCTGCACCCCTCACTGAGCTTGGCCTAGAGGCCCAGCCTGGCATGGTTGTGCCTGGGCTGTGCCGCTCAACAGCCCC
AGCTCCCAAGCAGACAAAGACCTCTTCCAGGAGGAGCCAGGTAGAAGATAGTTATACAGCCATATAGCTGCAGATCCAGATAACCTTCTT
TCTTTGGAAGTTTTCAAGAAATTCTTAAGCAGTCCAAGGATGATTTCAATTATGCTTCTCCATTGGGTCCTTCTGCTCATGCATTCAGTT
CAAGTGTCCTTTATCCCAGGTTCAGAGATGCTGCCTTTCTGAAGAAGACATCTGACCCTAGCAGGTTGGCCAGTGTTATTGAACAACAAA
AATGGGATAAATTGCTTTCATGATTAGCTCACCTTCTTCTGGTTTTAGCCCTTCTGTTCTCTGTACACGTGAACTTCTGTCATCTCCTTC
TGGCTTGGTTGCCTCTGAAAGGAGGGAAAGTCTCTTGGTAAATTATCTCTTTTGTGCTGTTTGCTGTTTCTCTGCTGCCGTCTTTGCAGT
TCTCCTCTCACTGGTTGCAGGCTTTCATAGTAAGGTTTGGCGAGAAATGTTCCAAACATCACATTTTGGATTCTAGGCTGTCACCCCTCA
TTCTGTGAAACGTATTAGCATGTGTTCGCCCAAGATGACTATTCCTTGTGAGCCAGTTAATGATGATATTCTACGCCCTTCCCTTCTAAG
CTGTAGTTCAGGAATCCAGCCCACATAGACAGACTCTTGCTTTCCATGGTGTAGTCAATGCCAAGTGATGCATCTAGGCAGGAAAATCTA
CTCTTTGCTTTTTTGGGGGCAATTAGTACATTTGTGAAGTGCAGCATCCAAGAAACAGCCTGTTTTTTCATCCCTTGAGAAAGGAGCAGT
CATTGCAGCTTTTCTGTCCTTGTCGGCCTGCAGTTCCTGGGGAAAAGAGTACATCTGAGCTACTTGTCCAAGCCTCTGTCTGCAGGTGAC
AGGTTTTGGGGGAAATGAGATGCATTAAGTAGAACATCATCTCGGGTCAGACATTGCCCCTTTTGTTTGCCAATGCCCCAGTCCTAGAGA
CTTGTCCTGACAGTGCCGCACACCTACTTTTGATCTCTCAGAGCAGGTGGCTCCATCCCCAGACTAGCCTGGCTGCTCTCCGAGGCCCCT
CCACCTGCTCCCCTTATTGCCCCATTCTTGTGGCTTGCCGGGCCACTTGGCCTCCCTTCTTGCCGGTGACAGCGTTCCATCATCTCCCCG
CTCCCCAAGGGCCAACTGCTTCTCACTCAGGCTGGTGTCATTTCAGGAGGACCAAAGCCTGCGTGAGCCTTTTTATTTTCAGTAAAATGG
TGCTTTTTTCCTTACTTCGAGATACTATATATAAATAATAATGTAAATGACACCTTTTCGTACGGAGCTGTTTGAGTATTGCTTTACAGA
GCTCACTAAATCAGCTTCAACAATCTTGAGCTCTGTGGCTCCTCACCCTGTCTGCATGGAAGACCTTGCTGGACGCTCTCGGGAGAGCAG
ACATAGCACCAGAAGCCACTGGGAGAAGTGTTTTCGATCCGTGTCTGGGCCACAGTAGTATTCACTGTTTAGTCTTTGAGTTCCGTAAGC
AGTCTCTTCATACATTTCTTACAGTCTGGAGTGTACTGACTAAATCTGTGTAAGCAAATTGAAATACTCTTTCTTTTAGGTAGCGTCACA
GTGGTTTTTTTTTTCCTCAGGATAATTTCTATACAATTTCCTTACTGTCAGAGGGACCAGATCTTTCCCTCACTGTGGCAGGGGCCGTGC
AGGTGGATAAAGGAAGAGCTGGTTTCCGGAGAGTGACTGTAACAGCGTTGACTCGAAGCTAGAGATGGAGGGGGTGGCCGTCTCTTAGAC
ATTGGACACCTCTCAGAGCCTCCTGAGGGCTTCTTTGTCTTCTAGAATCTCTACCGGTGGTCCTCCTGCAGGTTCTGGCTCACAGACATC
ATCATGCCTTTTTTTCCCTCCCTGAGGCGCCTTGGCAGAAGAGCGTGACCCTGTGAGCCAGGCCCCCCTTAGCTCTGCTTCAGATCACAG
AACACAGACAGACTCGCGAGTTGCTGGACCTCTTTGGTATTAAGTGTTTGAATCCATGGTGGGCCTTTTGCAAGTAGCGTTAGCTCTTTT
TAAATGTTGAACTGAGCTAAGGATGCACTTTCTTGTGGACATAGAAGGGGCCCACGTAAGGCCCTGAGTAGGCTCCTTAGTTGCTGCTTT
ACCTGATGAGGGCCAAAGAGATTAACTCTGCCTCGTTGCCATGTCTCAGAAAAGTTGCCATATTTCACCCAGAAGGGGCTTGTTTTCCTC
TTACTCTTACTTTAACCATGTGCCTGGAGGAGCCATTCTGGGCTCTTGCACTTGCCCAGCCTTTCTTTGCCAGGGGCAGAGAAGGGAAAG
GGGGTAGATTGAGTGTGCCAAGGGCCGTGCAAGGGCAGGCTTGCTTTCCACCCATCTGCTGAGGGAGCCCTCTCCTCTCGCTCCTTGCCT
CTGTTCACACCTGTTGTCTTGGAAGAGGATGGTCCCTTTGTCTTAAGGCTTTGTGATAAAGTCATCTCCAGTTAGGATCTGCACCTGTTT
CCTTCGTAATAGTGCCTGGCGGCCTTTCTGAAGTTACAGGTGGTTGGGAGCCCTCTCGCATGCAGAACATCTGGTAGATTGATCTGCCAG
GCTGGGTGGTTCTACTGCTTTCTCAATTTCTAAGAACCTTTTTTTTTTCTTAAAGAGTTCTGCTGAATTATTTGACAATATTTGTAAGTA
CCATGTTTCCTTGTGGTGTATGCTCTGTTCTGGTTTCTGTTTTCAAATCAAATGCCTGTTTGGGAGGAGATGAACGTATTTAGTCTATTA
GATTTGCACTGCTGGATTTTTTTTTTAAAGTGTAACCTTGAATAGCTGTCTTATTGTTTATCCTGTAAGATTAGTCAATCGATTAAAGTT

>66650_66650_2_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000268261_UBFD1_chr16_23573527_ENST00000395878_length(amino acids)=334AA_BP=213
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSH
LGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF
DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPQHRKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKVRLTFKLEQDQLWIGTK

--------------------------------------------------------------
>66650_66650_3_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000268261_UBFD1_chr16_23573527_ENST00000567212_length(transcript)=4868nt_BP=705nt
CCGGAAGTTCCGGGCCGAGTTCCTCGTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTC
TGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAG
ATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTT
CCAGAAAATGGCTTGGTAGCATACAAAGATGGGAAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGAT
TTAATCAACTACTGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAAC
GTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTA
GCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGAC
AAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCACAACACAGGAAAGTG
TTGGATAAAGGAAAACCTGAAGATGTGATGCCATCTGTTAAGGGGGCCCAGGAGCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAAT
AAATCTGGAGGAAAAGTGAGACTCACCTTTAAACTAGAACAAGACCAGCTGTGGATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATG
GGCTCCATAAAAAATGTGGTCAGTGAACCTATCGAAGGACATGAAGACTACCACATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCT
TACTACTGGGTGTACTGGGTTCCAACTCAATATGTGGATGCAATCAAAGACACTGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTT
CACCTCTGGCCCAGGAGACTGACCCAAAGTGAAGGACATTGCCGGGAGAGGCCTGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGT
TCATAAAAAATCTATATTCAATCTGAGGTGATGTGGTGACTGAAGCCAGAGGTGATGTACTTTCACCATTAGCTTAATTTTAACTTAAAA
TTACCAGTTCCCTTTCTTGCAGTCAGCTTCATACCATTTTTAAAGTCAATACGATGGAAATCAATAAATCTGAATTCCGAACATGTTGTG
TGGAATACTCTTAAGTGTGTTTGAGAGTAGATCTGCCAATTATGTTGACAAGGGAATGATCAAAAGCTTTGTTTTTTTTAAAAAAAAAAA
AAGCAGTTTCAATTGAAATATTTTCATACATCTTTGGTTGCAAACATTTGGACTGCATTGCAATGAGTTGGGGTGTTTTTTTTTTCCTTT
TTTGTATAAAATTGTATGCAAAATGGGGGTGGGTTAGTAAGCCACATATTTCTGTCCATTGATTCAGATTTAATTCTTTCCCTTTTTCAT
TCTCTCGCTTCCTCAATTTGAGTTTTTGTTTTAAGAACCCAAAGATGTCAGTTCTTCTTTTGGTACCTCATCAACGCTTCCTTTCCTGGG
CTCCCTCCCGCCGTGCTGCTGCTGCCTGTGAACGCACGGTGGGAGAGGAAGAGCTGCTCAGTCTTGGGCAAGGAGCTCTCACACTTGCTG
TGGTGTTCGTTGAGCAGCAGAGTATCTCCCAGTGACTCCTGTTTAAATGTCTTGCCCTTTGGGCCCCCATCTCCAAGGAGTTCCATTGCT
GGTTGGATGATTGTCTGCACCCCTCACTGAGCTTGGCCTAGAGGCCCAGCCTGGCATGGTTGTGCCTGGGCTGTGCCGCTCAACAGCCCC
AGCTCCCAAGCAGACAAAGACCTCTTCCAGGAGGAGCCAGGTAGAAGATAGTTATACAGCCATATAGCTGCAGATCCAGATAACCTTCTT
TCTTTGGAAGTTTTCAAGAAATTCTTAAGCAGTCCAAGGATGATTTCAATTATGCTTCTCCATTGGGTCCTTCTGCTCATGCATTCAGTT
CAAGTGTCCTTTATCCCAGGTTCAGAGATGCTGCCTTTCTGAAGAAGACATCTGACCCTAGCAGGTTGGCCAGTGTTATTGAACAACAAA
AATGGGATAAATTGCTTTCATGATTAGCTCACCTTCTTCTGGTTTTAGCCCTTCTGTTCTCTGTACACGTGAACTTCTGTCATCTCCTTC
TGGCTTGGTTGCCTCTGAAAGGAGGGAAAGTCTCTTGGTAAATTATCTCTTTTGTGCTGTTTGCTGTTTCTCTGCTGCCGTCTTTGCAGT
TCTCCTCTCACTGGTTGCAGGCTTTCATAGTAAGGTTTGGCGAGAAATGTTCCAAACATCACATTTTGGATTCTAGGCTGTCACCCCTCA
TTCTGTGAAACGTATTAGCATGTGTTCGCCCAAGATGACTATTCCTTGTGAGCCAGTTAATGATGATATTCTACGCCCTTCCCTTCTAAG
CTGTAGTTCAGGAATCCAGCCCACATAGACAGACTCTTGCTTTCCATGGTGTAGTCAATGCCAAGTGATGCATCTAGGCAGGAAAATCTA
CTCTTTGCTTTTTTGGGGGCAATTAGTACATTTGTGAAGTGCAGCATCCAAGAAACAGCCTGTTTTTTCATCCCTTGAGAAAGGAGCAGT
CATTGCAGCTTTTCTGTCCTTGTCGGCCTGCAGTTCCTGGGGAAAAGAGTACATCTGAGCTACTTGTCCAAGCCTCTGTCTGCAGGTGAC
AGGTTTTGGGGGAAATGAGATGCATTAAGTAGAACATCATCTCGGGTCAGACATTGCCCCTTTTGTTTGCCAATGCCCCAGTCCTAGAGA
CTTGTCCTGACAGTGCCGCACACCTACTTTTGATCTCTCAGAGCAGGTGGCTCCATCCCCAGACTAGCCTGGCTGCTCTCCGAGGCCCCT
CCACCTGCTCCCCTTATTGCCCCATTCTTGTGGCTTGCCGGGCCACTTGGCCTCCCTTCTTGCCGGTGACAGCGTTCCATCATCTCCCCG
CTCCCCAAGGGCCAACTGCTTCTCACTCAGGCTGGTGTCATTTCAGGAGGACCAAAGCCTGCGTGAGCCTTTTTATTTTCAGTAAAATGG
TGCTTTTTTCCTTACTTCGAGATACTATATATAAATAATAATGTAAATGACACCTTTTCGTACGGAGCTGTTTGAGTATTGCTTTACAGA
GCTCACTAAATCAGCTTCAACAATCTTGAGCTCTGTGGCTCCTCACCCTGTCTGCATGGAAGACCTTGCTGGACGCTCTCGGGAGAGCAG
ACATAGCACCAGAAGCCACTGGGAGAAGTGTTTTCGATCCGTGTCTGGGCCACAGTAGTATTCACTGTTTAGTCTTTGAGTTCCGTAAGC
AGTCTCTTCATACATTTCTTACAGTCTGGAGTGTACTGACTAAATCTGTGTAAGCAAATTGAAATACTCTTTCTTTTAGGTAGCGTCACA
GTGGTTTTTTTTTTCCTCAGGATAATTTCTATACAATTTCCTTACTGTCAGAGGGACCAGATCTTTCCCTCACTGTGGCAGGGGCCGTGC
AGGTGGATAAAGGAAGAGCTGGTTTCCGGAGAGTGACTGTAACAGCGTTGACTCGAAGCTAGAGATGGAGGGGGTGGCCGTCTCTTAGAC
ATTGGACACCTCTCAGAGCCTCCTGAGGGCTTCTTTGTCTTCTAGAATCTCTACCGGTGGTCCTCCTGCAGGTTCTGGCTCACAGACATC
ATCATGCCTTTTTTTCCCTCCCTGAGGCGCCTTGGCAGAAGAGCGTGACCCTGTGAGCCAGGCCCCCCTTAGCTCTGCTTCAGATCACAG
AACACAGACAGACTCGCGAGTTGCTGGACCTCTTTGGTATTAAGTGTTTGAATCCATGGTGGGCCTTTTGCAAGTAGCGTTAGCTCTTTT
TAAATGTTGAACTGAGCTAAGGATGCACTTTCTTGTGGACATAGAAGGGGCCCACGTAAGGCCCTGAGTAGGCTCCTTAGTTGCTGCTTT
ACCTGATGAGGGCCAAAGAGATTAACTCTGCCTCGTTGCCATGTCTCAGAAAAGTTGCCATATTTCACCCAGAAGGGGCTTGTTTTCCTC
TTACTCTTACTTTAACCATGTGCCTGGAGGAGCCATTCTGGGCTCTTGCACTTGCCCAGCCTTTCTTTGCCAGGGGCAGAGAAGGGAAAG
GGGGTAGATTGAGTGTGCCAAGGGCCGTGCAAGGGCAGGCTTGCTTTCCACCCATCTGCTGAGGGAGCCCTCTCCTCTCGCTCCTTGCCT
CTGTTCACACCTGTTGTCTTGGAAGAGGATGGTCCCTTTGTCTTAAGGCTTTGTGATAAAGTCATCTCCAGTTAGGATCTGCACCTGTTT
CCTTCGTAATAGTGCCTGGCGGCCTTTCTGAAGTTACAGGTGGTTGGGAGCCCTCTCGCATGCAGAACATCTGGTAGATTGATCTGCCAG
GCTGGGTGGTTCTACTGCTTTCTCAATTTCTAAGAACCTTTTTTTTTTCTTAAAGAGTTCTGCTGAATTATTTGACAATATTTGTAAGTA
CCATGTTTCCTTGTGGTGTATGCTCTGTTCTGGTTTCTGTTTTCAAATCAAATGCCTGTTTGGGAGGAGATGAACGTATTTAGTCTATTA
GATTTGCACTGCTGGATTTTTTTTTTAAAGTGTAACCTTGAATAGCTGTCTTATTGTTTATCCTGTAAGATTAGTCAATCGATTAAAGTT

>66650_66650_3_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000268261_UBFD1_chr16_23573527_ENST00000567212_length(amino acids)=334AA_BP=213
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSH
LGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF
DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPQHRKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKVRLTFKLEQDQLWIGTK

--------------------------------------------------------------
>66650_66650_4_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000537352_UBFD1_chr16_23573527_ENST00000219638_length(transcript)=1120nt_BP=486nt
GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC
CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA
ACTGGGAAATGATGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGC
ATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACG
TTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTAT
AAGACCATTTATTTCTTTGGAGACAAAACTATGCCACAACACAGGAAAGTGTTGGATAAAGGAAAACCTGAAGATGTGATGCCATCTGTT
AAGGGGGCCCAGGAGCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAATAAATCTGGAGGAAAAGTGAGACTCACCTTTAAACTAGAA
CAAGACCAGCTGTGGATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATGGGCTCCATAAAAAATGTGGTCAGTGAACCTATCGAAGGA
CATGAAGACTACCACATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCTTACTACTGGGTGTACTGGGTTCCAACTCAATATGTGGAT
GCAATCAAAGACACTGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTTCACCTCTGGCCCAGGAGACTGACCCAAAGTGAAGGACAT
TGCCGGGAGAGGCCTGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGTTCATAAAAAATCTATATTCAATCTGAGGTGATGTGGTGA
CTGAAGCCAGAGGTGATGTACTTTCACCATTAGCTTAATTTTAACTTAAAATTACCAGTTCCCTTTCTTGCAGTCAGCTTCATACCATTT

>66650_66650_4_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000537352_UBFD1_chr16_23573527_ENST00000219638_length(amino acids)=209AA_BP=88
MLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPQH
RKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKVRLTFKLEQDQLWIGTKERTEKLPMGSIKNVVSEPIEGHEDYHMMAFQLGPT

--------------------------------------------------------------
>66650_66650_5_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000537352_UBFD1_chr16_23573527_ENST00000395878_length(transcript)=4651nt_BP=486nt
GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC
CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA
ACTGGGAAATGATGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGC
ATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACG
TTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTAT
AAGACCATTTATTTCTTTGGAGACAAAACTATGCCACAACACAGGAAAGTGTTGGATAAAGGAAAACCTGAAGATGTGATGCCATCTGTT
AAGGGGGCCCAGGAGCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAATAAATCTGGAGGAAAAGTGAGACTCACCTTTAAACTAGAA
CAAGACCAGCTGTGGATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATGGGCTCCATAAAAAATGTGGTCAGTGAACCTATCGAAGGA
CATGAAGACTACCACATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCTTACTACTGGGTGTACTGGGTTCCAACTCAATATGTGGAT
GCAATCAAAGACACTGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTTCACCTCTGGCCCAGGAGACTGACCCAAAGTGAAGGACAT
TGCCGGGAGAGGCCTGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGTTCATAAAAAATCTATATTCAATCTGAGGTGATGTGGTGA
CTGAAGCCAGAGGTGATGTACTTTCACCATTAGCTTAATTTTAACTTAAAATTACCAGTTCCCTTTCTTGCAGTCAGCTTCATACCATTT
TTAAAGTCAATACGATGGAAATCAATAAATCTGAATTCCGAACATGTTGTGTGGAATACTCTTAAGTGTGTTTGAGAGTAGATCTGCCAA
TTATGTTGACAAGGGAATGATCAAAAGCTTTGTTTTTTTTAAAAAAAAAAAAAGCAGTTTCAATTGAAATATTTTCATACATCTTTGGTT
GCAAACATTTGGACTGCATTGCAATGAGTTGGGGTGTTTTTTTTTTCCTTTTTTGTATAAAATTGTATGCAAAATGGGGGTGGGTTAGTA
AGCCACATATTTCTGTCCATTGATTCAGATTTAATTCTTTCCCTTTTTCATTCTCTCGCTTCCTCAATTTGAGTTTTTGTTTTAAGAACC
CAAAGATGTCAGTTCTTCTTTTGGTACCTCATCAACGCTTCCTTTCCTGGGCTCCCTCCCGCCGTGCTGCTGCTGCCTGTGAACGCACGG
TGGGAGAGGAAGAGCTGCTCAGTCTTGGGCAAGGAGCTCTCACACTTGCTGTGGTGTTCGTTGAGCAGCAGAGTATCTCCCAGTGACTCC
TGTTTAAATGTCTTGCCCTTTGGGCCCCCATCTCCAAGGAGTTCCATTGCTGGTTGGATGATTGTCTGCACCCCTCACTGAGCTTGGCCT
AGAGGCCCAGCCTGGCATGGTTGTGCCTGGGCTGTGCCGCTCAACAGCCCCAGCTCCCAAGCAGACAAAGACCTCTTCCAGGAGGAGCCA
GGTAGAAGATAGTTATACAGCCATATAGCTGCAGATCCAGATAACCTTCTTTCTTTGGAAGTTTTCAAGAAATTCTTAAGCAGTCCAAGG
ATGATTTCAATTATGCTTCTCCATTGGGTCCTTCTGCTCATGCATTCAGTTCAAGTGTCCTTTATCCCAGGTTCAGAGATGCTGCCTTTC
TGAAGAAGACATCTGACCCTAGCAGGTTGGCCAGTGTTATTGAACAACAAAAATGGGATAAATTGCTTTCATGATTAGCTCACCTTCTTC
TGGTTTTAGCCCTTCTGTTCTCTGTACACGTGAACTTCTGTCATCTCCTTCTGGCTTGGTTGCCTCTGAAAGGAGGGAAAGTCTCTTGGT
AAATTATCTCTTTTGTGCTGTTTGCTGTTTCTCTGCTGCCGTCTTTGCAGTTCTCCTCTCACTGGTTGCAGGCTTTCATAGTAAGGTTTG
GCGAGAAATGTTCCAAACATCACATTTTGGATTCTAGGCTGTCACCCCTCATTCTGTGAAACGTATTAGCATGTGTTCGCCCAAGATGAC
TATTCCTTGTGAGCCAGTTAATGATGATATTCTACGCCCTTCCCTTCTAAGCTGTAGTTCAGGAATCCAGCCCACATAGACAGACTCTTG
CTTTCCATGGTGTAGTCAATGCCAAGTGATGCATCTAGGCAGGAAAATCTACTCTTTGCTTTTTTGGGGGCAATTAGTACATTTGTGAAG
TGCAGCATCCAAGAAACAGCCTGTTTTTTCATCCCTTGAGAAAGGAGCAGTCATTGCAGCTTTTCTGTCCTTGTCGGCCTGCAGTTCCTG
GGGAAAAGAGTACATCTGAGCTACTTGTCCAAGCCTCTGTCTGCAGGTGACAGGTTTTGGGGGAAATGAGATGCATTAAGTAGAACATCA
TCTCGGGTCAGACATTGCCCCTTTTGTTTGCCAATGCCCCAGTCCTAGAGACTTGTCCTGACAGTGCCGCACACCTACTTTTGATCTCTC
AGAGCAGGTGGCTCCATCCCCAGACTAGCCTGGCTGCTCTCCGAGGCCCCTCCACCTGCTCCCCTTATTGCCCCATTCTTGTGGCTTGCC
GGGCCACTTGGCCTCCCTTCTTGCCGGTGACAGCGTTCCATCATCTCCCCGCTCCCCAAGGGCCAACTGCTTCTCACTCAGGCTGGTGTC
ATTTCAGGAGGACCAAAGCCTGCGTGAGCCTTTTTATTTTCAGTAAAATGGTGCTTTTTTCCTTACTTCGAGATACTATATATAAATAAT
AATGTAAATGACACCTTTTCGTACGGAGCTGTTTGAGTATTGCTTTACAGAGCTCACTAAATCAGCTTCAACAATCTTGAGCTCTGTGGC
TCCTCACCCTGTCTGCATGGAAGACCTTGCTGGACGCTCTCGGGAGAGCAGACATAGCACCAGAAGCCACTGGGAGAAGTGTTTTCGATC
CGTGTCTGGGCCACAGTAGTATTCACTGTTTAGTCTTTGAGTTCCGTAAGCAGTCTCTTCATACATTTCTTACAGTCTGGAGTGTACTGA
CTAAATCTGTGTAAGCAAATTGAAATACTCTTTCTTTTAGGTAGCGTCACAGTGGTTTTTTTTTTCCTCAGGATAATTTCTATACAATTT
CCTTACTGTCAGAGGGACCAGATCTTTCCCTCACTGTGGCAGGGGCCGTGCAGGTGGATAAAGGAAGAGCTGGTTTCCGGAGAGTGACTG
TAACAGCGTTGACTCGAAGCTAGAGATGGAGGGGGTGGCCGTCTCTTAGACATTGGACACCTCTCAGAGCCTCCTGAGGGCTTCTTTGTC
TTCTAGAATCTCTACCGGTGGTCCTCCTGCAGGTTCTGGCTCACAGACATCATCATGCCTTTTTTTCCCTCCCTGAGGCGCCTTGGCAGA
AGAGCGTGACCCTGTGAGCCAGGCCCCCCTTAGCTCTGCTTCAGATCACAGAACACAGACAGACTCGCGAGTTGCTGGACCTCTTTGGTA
TTAAGTGTTTGAATCCATGGTGGGCCTTTTGCAAGTAGCGTTAGCTCTTTTTAAATGTTGAACTGAGCTAAGGATGCACTTTCTTGTGGA
CATAGAAGGGGCCCACGTAAGGCCCTGAGTAGGCTCCTTAGTTGCTGCTTTACCTGATGAGGGCCAAAGAGATTAACTCTGCCTCGTTGC
CATGTCTCAGAAAAGTTGCCATATTTCACCCAGAAGGGGCTTGTTTTCCTCTTACTCTTACTTTAACCATGTGCCTGGAGGAGCCATTCT
GGGCTCTTGCACTTGCCCAGCCTTTCTTTGCCAGGGGCAGAGAAGGGAAAGGGGGTAGATTGAGTGTGCCAAGGGCCGTGCAAGGGCAGG
CTTGCTTTCCACCCATCTGCTGAGGGAGCCCTCTCCTCTCGCTCCTTGCCTCTGTTCACACCTGTTGTCTTGGAAGAGGATGGTCCCTTT
GTCTTAAGGCTTTGTGATAAAGTCATCTCCAGTTAGGATCTGCACCTGTTTCCTTCGTAATAGTGCCTGGCGGCCTTTCTGAAGTTACAG
GTGGTTGGGAGCCCTCTCGCATGCAGAACATCTGGTAGATTGATCTGCCAGGCTGGGTGGTTCTACTGCTTTCTCAATTTCTAAGAACCT
TTTTTTTTTCTTAAAGAGTTCTGCTGAATTATTTGACAATATTTGTAAGTACCATGTTTCCTTGTGGTGTATGCTCTGTTCTGGTTTCTG
TTTTCAAATCAAATGCCTGTTTGGGAGGAGATGAACGTATTTAGTCTATTAGATTTGCACTGCTGGATTTTTTTTTTAAAGTGTAACCTT

>66650_66650_5_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000537352_UBFD1_chr16_23573527_ENST00000395878_length(amino acids)=209AA_BP=88
MLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPQH
RKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKVRLTFKLEQDQLWIGTKERTEKLPMGSIKNVVSEPIEGHEDYHMMAFQLGPT

--------------------------------------------------------------
>66650_66650_6_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000537352_UBFD1_chr16_23573527_ENST00000567212_length(transcript)=4649nt_BP=486nt
GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC
CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA
ACTGGGAAATGATGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGC
ATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACG
TTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTAT
AAGACCATTTATTTCTTTGGAGACAAAACTATGCCACAACACAGGAAAGTGTTGGATAAAGGAAAACCTGAAGATGTGATGCCATCTGTT
AAGGGGGCCCAGGAGCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAATAAATCTGGAGGAAAAGTGAGACTCACCTTTAAACTAGAA
CAAGACCAGCTGTGGATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATGGGCTCCATAAAAAATGTGGTCAGTGAACCTATCGAAGGA
CATGAAGACTACCACATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCTTACTACTGGGTGTACTGGGTTCCAACTCAATATGTGGAT
GCAATCAAAGACACTGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTTCACCTCTGGCCCAGGAGACTGACCCAAAGTGAAGGACAT
TGCCGGGAGAGGCCTGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGTTCATAAAAAATCTATATTCAATCTGAGGTGATGTGGTGA
CTGAAGCCAGAGGTGATGTACTTTCACCATTAGCTTAATTTTAACTTAAAATTACCAGTTCCCTTTCTTGCAGTCAGCTTCATACCATTT
TTAAAGTCAATACGATGGAAATCAATAAATCTGAATTCCGAACATGTTGTGTGGAATACTCTTAAGTGTGTTTGAGAGTAGATCTGCCAA
TTATGTTGACAAGGGAATGATCAAAAGCTTTGTTTTTTTTAAAAAAAAAAAAAGCAGTTTCAATTGAAATATTTTCATACATCTTTGGTT
GCAAACATTTGGACTGCATTGCAATGAGTTGGGGTGTTTTTTTTTTCCTTTTTTGTATAAAATTGTATGCAAAATGGGGGTGGGTTAGTA
AGCCACATATTTCTGTCCATTGATTCAGATTTAATTCTTTCCCTTTTTCATTCTCTCGCTTCCTCAATTTGAGTTTTTGTTTTAAGAACC
CAAAGATGTCAGTTCTTCTTTTGGTACCTCATCAACGCTTCCTTTCCTGGGCTCCCTCCCGCCGTGCTGCTGCTGCCTGTGAACGCACGG
TGGGAGAGGAAGAGCTGCTCAGTCTTGGGCAAGGAGCTCTCACACTTGCTGTGGTGTTCGTTGAGCAGCAGAGTATCTCCCAGTGACTCC
TGTTTAAATGTCTTGCCCTTTGGGCCCCCATCTCCAAGGAGTTCCATTGCTGGTTGGATGATTGTCTGCACCCCTCACTGAGCTTGGCCT
AGAGGCCCAGCCTGGCATGGTTGTGCCTGGGCTGTGCCGCTCAACAGCCCCAGCTCCCAAGCAGACAAAGACCTCTTCCAGGAGGAGCCA
GGTAGAAGATAGTTATACAGCCATATAGCTGCAGATCCAGATAACCTTCTTTCTTTGGAAGTTTTCAAGAAATTCTTAAGCAGTCCAAGG
ATGATTTCAATTATGCTTCTCCATTGGGTCCTTCTGCTCATGCATTCAGTTCAAGTGTCCTTTATCCCAGGTTCAGAGATGCTGCCTTTC
TGAAGAAGACATCTGACCCTAGCAGGTTGGCCAGTGTTATTGAACAACAAAAATGGGATAAATTGCTTTCATGATTAGCTCACCTTCTTC
TGGTTTTAGCCCTTCTGTTCTCTGTACACGTGAACTTCTGTCATCTCCTTCTGGCTTGGTTGCCTCTGAAAGGAGGGAAAGTCTCTTGGT
AAATTATCTCTTTTGTGCTGTTTGCTGTTTCTCTGCTGCCGTCTTTGCAGTTCTCCTCTCACTGGTTGCAGGCTTTCATAGTAAGGTTTG
GCGAGAAATGTTCCAAACATCACATTTTGGATTCTAGGCTGTCACCCCTCATTCTGTGAAACGTATTAGCATGTGTTCGCCCAAGATGAC
TATTCCTTGTGAGCCAGTTAATGATGATATTCTACGCCCTTCCCTTCTAAGCTGTAGTTCAGGAATCCAGCCCACATAGACAGACTCTTG
CTTTCCATGGTGTAGTCAATGCCAAGTGATGCATCTAGGCAGGAAAATCTACTCTTTGCTTTTTTGGGGGCAATTAGTACATTTGTGAAG
TGCAGCATCCAAGAAACAGCCTGTTTTTTCATCCCTTGAGAAAGGAGCAGTCATTGCAGCTTTTCTGTCCTTGTCGGCCTGCAGTTCCTG
GGGAAAAGAGTACATCTGAGCTACTTGTCCAAGCCTCTGTCTGCAGGTGACAGGTTTTGGGGGAAATGAGATGCATTAAGTAGAACATCA
TCTCGGGTCAGACATTGCCCCTTTTGTTTGCCAATGCCCCAGTCCTAGAGACTTGTCCTGACAGTGCCGCACACCTACTTTTGATCTCTC
AGAGCAGGTGGCTCCATCCCCAGACTAGCCTGGCTGCTCTCCGAGGCCCCTCCACCTGCTCCCCTTATTGCCCCATTCTTGTGGCTTGCC
GGGCCACTTGGCCTCCCTTCTTGCCGGTGACAGCGTTCCATCATCTCCCCGCTCCCCAAGGGCCAACTGCTTCTCACTCAGGCTGGTGTC
ATTTCAGGAGGACCAAAGCCTGCGTGAGCCTTTTTATTTTCAGTAAAATGGTGCTTTTTTCCTTACTTCGAGATACTATATATAAATAAT
AATGTAAATGACACCTTTTCGTACGGAGCTGTTTGAGTATTGCTTTACAGAGCTCACTAAATCAGCTTCAACAATCTTGAGCTCTGTGGC
TCCTCACCCTGTCTGCATGGAAGACCTTGCTGGACGCTCTCGGGAGAGCAGACATAGCACCAGAAGCCACTGGGAGAAGTGTTTTCGATC
CGTGTCTGGGCCACAGTAGTATTCACTGTTTAGTCTTTGAGTTCCGTAAGCAGTCTCTTCATACATTTCTTACAGTCTGGAGTGTACTGA
CTAAATCTGTGTAAGCAAATTGAAATACTCTTTCTTTTAGGTAGCGTCACAGTGGTTTTTTTTTTCCTCAGGATAATTTCTATACAATTT
CCTTACTGTCAGAGGGACCAGATCTTTCCCTCACTGTGGCAGGGGCCGTGCAGGTGGATAAAGGAAGAGCTGGTTTCCGGAGAGTGACTG
TAACAGCGTTGACTCGAAGCTAGAGATGGAGGGGGTGGCCGTCTCTTAGACATTGGACACCTCTCAGAGCCTCCTGAGGGCTTCTTTGTC
TTCTAGAATCTCTACCGGTGGTCCTCCTGCAGGTTCTGGCTCACAGACATCATCATGCCTTTTTTTCCCTCCCTGAGGCGCCTTGGCAGA
AGAGCGTGACCCTGTGAGCCAGGCCCCCCTTAGCTCTGCTTCAGATCACAGAACACAGACAGACTCGCGAGTTGCTGGACCTCTTTGGTA
TTAAGTGTTTGAATCCATGGTGGGCCTTTTGCAAGTAGCGTTAGCTCTTTTTAAATGTTGAACTGAGCTAAGGATGCACTTTCTTGTGGA
CATAGAAGGGGCCCACGTAAGGCCCTGAGTAGGCTCCTTAGTTGCTGCTTTACCTGATGAGGGCCAAAGAGATTAACTCTGCCTCGTTGC
CATGTCTCAGAAAAGTTGCCATATTTCACCCAGAAGGGGCTTGTTTTCCTCTTACTCTTACTTTAACCATGTGCCTGGAGGAGCCATTCT
GGGCTCTTGCACTTGCCCAGCCTTTCTTTGCCAGGGGCAGAGAAGGGAAAGGGGGTAGATTGAGTGTGCCAAGGGCCGTGCAAGGGCAGG
CTTGCTTTCCACCCATCTGCTGAGGGAGCCCTCTCCTCTCGCTCCTTGCCTCTGTTCACACCTGTTGTCTTGGAAGAGGATGGTCCCTTT
GTCTTAAGGCTTTGTGATAAAGTCATCTCCAGTTAGGATCTGCACCTGTTTCCTTCGTAATAGTGCCTGGCGGCCTTTCTGAAGTTACAG
GTGGTTGGGAGCCCTCTCGCATGCAGAACATCTGGTAGATTGATCTGCCAGGCTGGGTGGTTCTACTGCTTTCTCAATTTCTAAGAACCT
TTTTTTTTTCTTAAAGAGTTCTGCTGAATTATTTGACAATATTTGTAAGTACCATGTTTCCTTGTGGTGTATGCTCTGTTCTGGTTTCTG
TTTTCAAATCAAATGCCTGTTTGGGAGGAGATGAACGTATTTAGTCTATTAGATTTGCACTGCTGGATTTTTTTTTTAAAGTGTAACCTT

>66650_66650_6_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000537352_UBFD1_chr16_23573527_ENST00000567212_length(amino acids)=209AA_BP=88
MLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPQH
RKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKVRLTFKLEQDQLWIGTKERTEKLPMGSIKNVVSEPIEGHEDYHMMAFQLGPT

--------------------------------------------------------------
>66650_66650_7_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000539622_UBFD1_chr16_23573527_ENST00000219638_length(transcript)=1237nt_BP=603nt
GTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCC
TCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGAT
CGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTAC
TGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATT
GGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGG
AAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGT
CTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCACAACACAGGAAAGTGTTGGATAAAGGA
AAACCTGAAGATGTGATGCCATCTGTTAAGGGGGCCCAGGAGCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAATAAATCTGGAGGA
AAAGTGAGACTCACCTTTAAACTAGAACAAGACCAGCTGTGGATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATGGGCTCCATAAAA
AATGTGGTCAGTGAACCTATCGAAGGACATGAAGACTACCACATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCTTACTACTGGGTG
TACTGGGTTCCAACTCAATATGTGGATGCAATCAAAGACACTGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTTCACCTCTGGCCC
AGGAGACTGACCCAAAGTGAAGGACATTGCCGGGAGAGGCCTGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGTTCATAAAAAATC
TATATTCAATCTGAGGTGATGTGGTGACTGAAGCCAGAGGTGATGTACTTTCACCATTAGCTTAATTTTAACTTAAAATTACCAGTTCCC

>66650_66650_7_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000539622_UBFD1_chr16_23573527_ENST00000219638_length(amino acids)=260AA_BP=139
MRKCRSNWEMMNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKE
FAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPQHRKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKV

--------------------------------------------------------------
>66650_66650_8_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000539622_UBFD1_chr16_23573527_ENST00000395878_length(transcript)=4768nt_BP=603nt
GTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCC
TCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGAT
CGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTAC
TGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATT
GGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGG
AAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGT
CTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCACAACACAGGAAAGTGTTGGATAAAGGA
AAACCTGAAGATGTGATGCCATCTGTTAAGGGGGCCCAGGAGCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAATAAATCTGGAGGA
AAAGTGAGACTCACCTTTAAACTAGAACAAGACCAGCTGTGGATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATGGGCTCCATAAAA
AATGTGGTCAGTGAACCTATCGAAGGACATGAAGACTACCACATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCTTACTACTGGGTG
TACTGGGTTCCAACTCAATATGTGGATGCAATCAAAGACACTGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTTCACCTCTGGCCC
AGGAGACTGACCCAAAGTGAAGGACATTGCCGGGAGAGGCCTGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGTTCATAAAAAATC
TATATTCAATCTGAGGTGATGTGGTGACTGAAGCCAGAGGTGATGTACTTTCACCATTAGCTTAATTTTAACTTAAAATTACCAGTTCCC
TTTCTTGCAGTCAGCTTCATACCATTTTTAAAGTCAATACGATGGAAATCAATAAATCTGAATTCCGAACATGTTGTGTGGAATACTCTT
AAGTGTGTTTGAGAGTAGATCTGCCAATTATGTTGACAAGGGAATGATCAAAAGCTTTGTTTTTTTTAAAAAAAAAAAAAGCAGTTTCAA
TTGAAATATTTTCATACATCTTTGGTTGCAAACATTTGGACTGCATTGCAATGAGTTGGGGTGTTTTTTTTTTCCTTTTTTGTATAAAAT
TGTATGCAAAATGGGGGTGGGTTAGTAAGCCACATATTTCTGTCCATTGATTCAGATTTAATTCTTTCCCTTTTTCATTCTCTCGCTTCC
TCAATTTGAGTTTTTGTTTTAAGAACCCAAAGATGTCAGTTCTTCTTTTGGTACCTCATCAACGCTTCCTTTCCTGGGCTCCCTCCCGCC
GTGCTGCTGCTGCCTGTGAACGCACGGTGGGAGAGGAAGAGCTGCTCAGTCTTGGGCAAGGAGCTCTCACACTTGCTGTGGTGTTCGTTG
AGCAGCAGAGTATCTCCCAGTGACTCCTGTTTAAATGTCTTGCCCTTTGGGCCCCCATCTCCAAGGAGTTCCATTGCTGGTTGGATGATT
GTCTGCACCCCTCACTGAGCTTGGCCTAGAGGCCCAGCCTGGCATGGTTGTGCCTGGGCTGTGCCGCTCAACAGCCCCAGCTCCCAAGCA
GACAAAGACCTCTTCCAGGAGGAGCCAGGTAGAAGATAGTTATACAGCCATATAGCTGCAGATCCAGATAACCTTCTTTCTTTGGAAGTT
TTCAAGAAATTCTTAAGCAGTCCAAGGATGATTTCAATTATGCTTCTCCATTGGGTCCTTCTGCTCATGCATTCAGTTCAAGTGTCCTTT
ATCCCAGGTTCAGAGATGCTGCCTTTCTGAAGAAGACATCTGACCCTAGCAGGTTGGCCAGTGTTATTGAACAACAAAAATGGGATAAAT
TGCTTTCATGATTAGCTCACCTTCTTCTGGTTTTAGCCCTTCTGTTCTCTGTACACGTGAACTTCTGTCATCTCCTTCTGGCTTGGTTGC
CTCTGAAAGGAGGGAAAGTCTCTTGGTAAATTATCTCTTTTGTGCTGTTTGCTGTTTCTCTGCTGCCGTCTTTGCAGTTCTCCTCTCACT
GGTTGCAGGCTTTCATAGTAAGGTTTGGCGAGAAATGTTCCAAACATCACATTTTGGATTCTAGGCTGTCACCCCTCATTCTGTGAAACG
TATTAGCATGTGTTCGCCCAAGATGACTATTCCTTGTGAGCCAGTTAATGATGATATTCTACGCCCTTCCCTTCTAAGCTGTAGTTCAGG
AATCCAGCCCACATAGACAGACTCTTGCTTTCCATGGTGTAGTCAATGCCAAGTGATGCATCTAGGCAGGAAAATCTACTCTTTGCTTTT
TTGGGGGCAATTAGTACATTTGTGAAGTGCAGCATCCAAGAAACAGCCTGTTTTTTCATCCCTTGAGAAAGGAGCAGTCATTGCAGCTTT
TCTGTCCTTGTCGGCCTGCAGTTCCTGGGGAAAAGAGTACATCTGAGCTACTTGTCCAAGCCTCTGTCTGCAGGTGACAGGTTTTGGGGG
AAATGAGATGCATTAAGTAGAACATCATCTCGGGTCAGACATTGCCCCTTTTGTTTGCCAATGCCCCAGTCCTAGAGACTTGTCCTGACA
GTGCCGCACACCTACTTTTGATCTCTCAGAGCAGGTGGCTCCATCCCCAGACTAGCCTGGCTGCTCTCCGAGGCCCCTCCACCTGCTCCC
CTTATTGCCCCATTCTTGTGGCTTGCCGGGCCACTTGGCCTCCCTTCTTGCCGGTGACAGCGTTCCATCATCTCCCCGCTCCCCAAGGGC
CAACTGCTTCTCACTCAGGCTGGTGTCATTTCAGGAGGACCAAAGCCTGCGTGAGCCTTTTTATTTTCAGTAAAATGGTGCTTTTTTCCT
TACTTCGAGATACTATATATAAATAATAATGTAAATGACACCTTTTCGTACGGAGCTGTTTGAGTATTGCTTTACAGAGCTCACTAAATC
AGCTTCAACAATCTTGAGCTCTGTGGCTCCTCACCCTGTCTGCATGGAAGACCTTGCTGGACGCTCTCGGGAGAGCAGACATAGCACCAG
AAGCCACTGGGAGAAGTGTTTTCGATCCGTGTCTGGGCCACAGTAGTATTCACTGTTTAGTCTTTGAGTTCCGTAAGCAGTCTCTTCATA
CATTTCTTACAGTCTGGAGTGTACTGACTAAATCTGTGTAAGCAAATTGAAATACTCTTTCTTTTAGGTAGCGTCACAGTGGTTTTTTTT
TTCCTCAGGATAATTTCTATACAATTTCCTTACTGTCAGAGGGACCAGATCTTTCCCTCACTGTGGCAGGGGCCGTGCAGGTGGATAAAG
GAAGAGCTGGTTTCCGGAGAGTGACTGTAACAGCGTTGACTCGAAGCTAGAGATGGAGGGGGTGGCCGTCTCTTAGACATTGGACACCTC
TCAGAGCCTCCTGAGGGCTTCTTTGTCTTCTAGAATCTCTACCGGTGGTCCTCCTGCAGGTTCTGGCTCACAGACATCATCATGCCTTTT
TTTCCCTCCCTGAGGCGCCTTGGCAGAAGAGCGTGACCCTGTGAGCCAGGCCCCCCTTAGCTCTGCTTCAGATCACAGAACACAGACAGA
CTCGCGAGTTGCTGGACCTCTTTGGTATTAAGTGTTTGAATCCATGGTGGGCCTTTTGCAAGTAGCGTTAGCTCTTTTTAAATGTTGAAC
TGAGCTAAGGATGCACTTTCTTGTGGACATAGAAGGGGCCCACGTAAGGCCCTGAGTAGGCTCCTTAGTTGCTGCTTTACCTGATGAGGG
CCAAAGAGATTAACTCTGCCTCGTTGCCATGTCTCAGAAAAGTTGCCATATTTCACCCAGAAGGGGCTTGTTTTCCTCTTACTCTTACTT
TAACCATGTGCCTGGAGGAGCCATTCTGGGCTCTTGCACTTGCCCAGCCTTTCTTTGCCAGGGGCAGAGAAGGGAAAGGGGGTAGATTGA
GTGTGCCAAGGGCCGTGCAAGGGCAGGCTTGCTTTCCACCCATCTGCTGAGGGAGCCCTCTCCTCTCGCTCCTTGCCTCTGTTCACACCT
GTTGTCTTGGAAGAGGATGGTCCCTTTGTCTTAAGGCTTTGTGATAAAGTCATCTCCAGTTAGGATCTGCACCTGTTTCCTTCGTAATAG
TGCCTGGCGGCCTTTCTGAAGTTACAGGTGGTTGGGAGCCCTCTCGCATGCAGAACATCTGGTAGATTGATCTGCCAGGCTGGGTGGTTC
TACTGCTTTCTCAATTTCTAAGAACCTTTTTTTTTTCTTAAAGAGTTCTGCTGAATTATTTGACAATATTTGTAAGTACCATGTTTCCTT
GTGGTGTATGCTCTGTTCTGGTTTCTGTTTTCAAATCAAATGCCTGTTTGGGAGGAGATGAACGTATTTAGTCTATTAGATTTGCACTGC

>66650_66650_8_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000539622_UBFD1_chr16_23573527_ENST00000395878_length(amino acids)=260AA_BP=139
MRKCRSNWEMMNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKE
FAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPQHRKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKV

--------------------------------------------------------------
>66650_66650_9_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000539622_UBFD1_chr16_23573527_ENST00000567212_length(transcript)=4766nt_BP=603nt
GTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCC
TCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGAT
CGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTAC
TGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATT
GGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGG
AAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGT
CTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCACAACACAGGAAAGTGTTGGATAAAGGA
AAACCTGAAGATGTGATGCCATCTGTTAAGGGGGCCCAGGAGCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAATAAATCTGGAGGA
AAAGTGAGACTCACCTTTAAACTAGAACAAGACCAGCTGTGGATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATGGGCTCCATAAAA
AATGTGGTCAGTGAACCTATCGAAGGACATGAAGACTACCACATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCTTACTACTGGGTG
TACTGGGTTCCAACTCAATATGTGGATGCAATCAAAGACACTGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTTCACCTCTGGCCC
AGGAGACTGACCCAAAGTGAAGGACATTGCCGGGAGAGGCCTGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGTTCATAAAAAATC
TATATTCAATCTGAGGTGATGTGGTGACTGAAGCCAGAGGTGATGTACTTTCACCATTAGCTTAATTTTAACTTAAAATTACCAGTTCCC
TTTCTTGCAGTCAGCTTCATACCATTTTTAAAGTCAATACGATGGAAATCAATAAATCTGAATTCCGAACATGTTGTGTGGAATACTCTT
AAGTGTGTTTGAGAGTAGATCTGCCAATTATGTTGACAAGGGAATGATCAAAAGCTTTGTTTTTTTTAAAAAAAAAAAAAGCAGTTTCAA
TTGAAATATTTTCATACATCTTTGGTTGCAAACATTTGGACTGCATTGCAATGAGTTGGGGTGTTTTTTTTTTCCTTTTTTGTATAAAAT
TGTATGCAAAATGGGGGTGGGTTAGTAAGCCACATATTTCTGTCCATTGATTCAGATTTAATTCTTTCCCTTTTTCATTCTCTCGCTTCC
TCAATTTGAGTTTTTGTTTTAAGAACCCAAAGATGTCAGTTCTTCTTTTGGTACCTCATCAACGCTTCCTTTCCTGGGCTCCCTCCCGCC
GTGCTGCTGCTGCCTGTGAACGCACGGTGGGAGAGGAAGAGCTGCTCAGTCTTGGGCAAGGAGCTCTCACACTTGCTGTGGTGTTCGTTG
AGCAGCAGAGTATCTCCCAGTGACTCCTGTTTAAATGTCTTGCCCTTTGGGCCCCCATCTCCAAGGAGTTCCATTGCTGGTTGGATGATT
GTCTGCACCCCTCACTGAGCTTGGCCTAGAGGCCCAGCCTGGCATGGTTGTGCCTGGGCTGTGCCGCTCAACAGCCCCAGCTCCCAAGCA
GACAAAGACCTCTTCCAGGAGGAGCCAGGTAGAAGATAGTTATACAGCCATATAGCTGCAGATCCAGATAACCTTCTTTCTTTGGAAGTT
TTCAAGAAATTCTTAAGCAGTCCAAGGATGATTTCAATTATGCTTCTCCATTGGGTCCTTCTGCTCATGCATTCAGTTCAAGTGTCCTTT
ATCCCAGGTTCAGAGATGCTGCCTTTCTGAAGAAGACATCTGACCCTAGCAGGTTGGCCAGTGTTATTGAACAACAAAAATGGGATAAAT
TGCTTTCATGATTAGCTCACCTTCTTCTGGTTTTAGCCCTTCTGTTCTCTGTACACGTGAACTTCTGTCATCTCCTTCTGGCTTGGTTGC
CTCTGAAAGGAGGGAAAGTCTCTTGGTAAATTATCTCTTTTGTGCTGTTTGCTGTTTCTCTGCTGCCGTCTTTGCAGTTCTCCTCTCACT
GGTTGCAGGCTTTCATAGTAAGGTTTGGCGAGAAATGTTCCAAACATCACATTTTGGATTCTAGGCTGTCACCCCTCATTCTGTGAAACG
TATTAGCATGTGTTCGCCCAAGATGACTATTCCTTGTGAGCCAGTTAATGATGATATTCTACGCCCTTCCCTTCTAAGCTGTAGTTCAGG
AATCCAGCCCACATAGACAGACTCTTGCTTTCCATGGTGTAGTCAATGCCAAGTGATGCATCTAGGCAGGAAAATCTACTCTTTGCTTTT
TTGGGGGCAATTAGTACATTTGTGAAGTGCAGCATCCAAGAAACAGCCTGTTTTTTCATCCCTTGAGAAAGGAGCAGTCATTGCAGCTTT
TCTGTCCTTGTCGGCCTGCAGTTCCTGGGGAAAAGAGTACATCTGAGCTACTTGTCCAAGCCTCTGTCTGCAGGTGACAGGTTTTGGGGG
AAATGAGATGCATTAAGTAGAACATCATCTCGGGTCAGACATTGCCCCTTTTGTTTGCCAATGCCCCAGTCCTAGAGACTTGTCCTGACA
GTGCCGCACACCTACTTTTGATCTCTCAGAGCAGGTGGCTCCATCCCCAGACTAGCCTGGCTGCTCTCCGAGGCCCCTCCACCTGCTCCC
CTTATTGCCCCATTCTTGTGGCTTGCCGGGCCACTTGGCCTCCCTTCTTGCCGGTGACAGCGTTCCATCATCTCCCCGCTCCCCAAGGGC
CAACTGCTTCTCACTCAGGCTGGTGTCATTTCAGGAGGACCAAAGCCTGCGTGAGCCTTTTTATTTTCAGTAAAATGGTGCTTTTTTCCT
TACTTCGAGATACTATATATAAATAATAATGTAAATGACACCTTTTCGTACGGAGCTGTTTGAGTATTGCTTTACAGAGCTCACTAAATC
AGCTTCAACAATCTTGAGCTCTGTGGCTCCTCACCCTGTCTGCATGGAAGACCTTGCTGGACGCTCTCGGGAGAGCAGACATAGCACCAG
AAGCCACTGGGAGAAGTGTTTTCGATCCGTGTCTGGGCCACAGTAGTATTCACTGTTTAGTCTTTGAGTTCCGTAAGCAGTCTCTTCATA
CATTTCTTACAGTCTGGAGTGTACTGACTAAATCTGTGTAAGCAAATTGAAATACTCTTTCTTTTAGGTAGCGTCACAGTGGTTTTTTTT
TTCCTCAGGATAATTTCTATACAATTTCCTTACTGTCAGAGGGACCAGATCTTTCCCTCACTGTGGCAGGGGCCGTGCAGGTGGATAAAG
GAAGAGCTGGTTTCCGGAGAGTGACTGTAACAGCGTTGACTCGAAGCTAGAGATGGAGGGGGTGGCCGTCTCTTAGACATTGGACACCTC
TCAGAGCCTCCTGAGGGCTTCTTTGTCTTCTAGAATCTCTACCGGTGGTCCTCCTGCAGGTTCTGGCTCACAGACATCATCATGCCTTTT
TTTCCCTCCCTGAGGCGCCTTGGCAGAAGAGCGTGACCCTGTGAGCCAGGCCCCCCTTAGCTCTGCTTCAGATCACAGAACACAGACAGA
CTCGCGAGTTGCTGGACCTCTTTGGTATTAAGTGTTTGAATCCATGGTGGGCCTTTTGCAAGTAGCGTTAGCTCTTTTTAAATGTTGAAC
TGAGCTAAGGATGCACTTTCTTGTGGACATAGAAGGGGCCCACGTAAGGCCCTGAGTAGGCTCCTTAGTTGCTGCTTTACCTGATGAGGG
CCAAAGAGATTAACTCTGCCTCGTTGCCATGTCTCAGAAAAGTTGCCATATTTCACCCAGAAGGGGCTTGTTTTCCTCTTACTCTTACTT
TAACCATGTGCCTGGAGGAGCCATTCTGGGCTCTTGCACTTGCCCAGCCTTTCTTTGCCAGGGGCAGAGAAGGGAAAGGGGGTAGATTGA
GTGTGCCAAGGGCCGTGCAAGGGCAGGCTTGCTTTCCACCCATCTGCTGAGGGAGCCCTCTCCTCTCGCTCCTTGCCTCTGTTCACACCT
GTTGTCTTGGAAGAGGATGGTCCCTTTGTCTTAAGGCTTTGTGATAAAGTCATCTCCAGTTAGGATCTGCACCTGTTTCCTTCGTAATAG
TGCCTGGCGGCCTTTCTGAAGTTACAGGTGGTTGGGAGCCCTCTCGCATGCAGAACATCTGGTAGATTGATCTGCCAGGCTGGGTGGTTC
TACTGCTTTCTCAATTTCTAAGAACCTTTTTTTTTTCTTAAAGAGTTCTGCTGAATTATTTGACAATATTTGTAAGTACCATGTTTCCTT
GTGGTGTATGCTCTGTTCTGGTTTCTGTTTTCAAATCAAATGCCTGTTTGGGAGGAGATGAACGTATTTAGTCTATTAGATTTGCACTGC

>66650_66650_9_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000539622_UBFD1_chr16_23573527_ENST00000567212_length(amino acids)=260AA_BP=139
MRKCRSNWEMMNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKE
FAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPQHRKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKV

--------------------------------------------------------------
>66650_66650_10_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000566983_UBFD1_chr16_23573527_ENST00000219638_length(transcript)=1396nt_BP=762nt
GAACTCACGAGTCTTGCAGTCATAAAGCAGCAACATAAAGCAAGCTCCCAACTCTAGTTCTCCAGGCAATTCATCCAGGCTGTCCCCTGC
AAGCTGCTCAGCCCACCAGATCTGCTTTGGGGAGCGCATTAAACATGGTTATGCAATGATTGGGTGGCGGATGCCATAGACATCTGGCCC
TATGACAAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTT
GAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTTCCAGAAAATGGCTTGGTAGCATACAAAGATGGG
AAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTACTGTCTGAGCTACATTGCGAAA
ATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAA
GAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGC
CTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGAC
GGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCACAACACAGGAAAGTGTTGGATAAAGGAAAACCTGAAGATGTGATGCCA
TCTGTTAAGGGGGCCCAGGAGCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAATAAATCTGGAGGAAAAGTGAGACTCACCTTTAAA
CTAGAACAAGACCAGCTGTGGATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATGGGCTCCATAAAAAATGTGGTCAGTGAACCTATC
GAAGGACATGAAGACTACCACATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCTTACTACTGGGTGTACTGGGTTCCAACTCAATAT
GTGGATGCAATCAAAGACACTGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTTCACCTCTGGCCCAGGAGACTGACCCAAAGTGAA
GGACATTGCCGGGAGAGGCCTGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGTTCATAAAAAATCTATATTCAATCTGAGGTGATG
TGGTGACTGAAGCCAGAGGTGATGTACTTTCACCATTAGCTTAATTTTAACTTAAAATTACCAGTTCCCTTTCTTGCAGTCAGCTTCATA

>66650_66650_10_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000566983_UBFD1_chr16_23573527_ENST00000219638_length(amino acids)=307AA_BP=186
MDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRG
TFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFF
GDKTMPQHRKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKVRLTFKLEQDQLWIGTKERTEKLPMGSIKNVVSEPIEGHEDYHM

--------------------------------------------------------------
>66650_66650_11_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000566983_UBFD1_chr16_23573527_ENST00000395878_length(transcript)=4927nt_BP=762nt
GAACTCACGAGTCTTGCAGTCATAAAGCAGCAACATAAAGCAAGCTCCCAACTCTAGTTCTCCAGGCAATTCATCCAGGCTGTCCCCTGC
AAGCTGCTCAGCCCACCAGATCTGCTTTGGGGAGCGCATTAAACATGGTTATGCAATGATTGGGTGGCGGATGCCATAGACATCTGGCCC
TATGACAAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTT
GAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTTCCAGAAAATGGCTTGGTAGCATACAAAGATGGG
AAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTACTGTCTGAGCTACATTGCGAAA
ATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAA
GAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGC
CTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGAC
GGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCACAACACAGGAAAGTGTTGGATAAAGGAAAACCTGAAGATGTGATGCCA
TCTGTTAAGGGGGCCCAGGAGCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAATAAATCTGGAGGAAAAGTGAGACTCACCTTTAAA
CTAGAACAAGACCAGCTGTGGATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATGGGCTCCATAAAAAATGTGGTCAGTGAACCTATC
GAAGGACATGAAGACTACCACATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCTTACTACTGGGTGTACTGGGTTCCAACTCAATAT
GTGGATGCAATCAAAGACACTGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTTCACCTCTGGCCCAGGAGACTGACCCAAAGTGAA
GGACATTGCCGGGAGAGGCCTGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGTTCATAAAAAATCTATATTCAATCTGAGGTGATG
TGGTGACTGAAGCCAGAGGTGATGTACTTTCACCATTAGCTTAATTTTAACTTAAAATTACCAGTTCCCTTTCTTGCAGTCAGCTTCATA
CCATTTTTAAAGTCAATACGATGGAAATCAATAAATCTGAATTCCGAACATGTTGTGTGGAATACTCTTAAGTGTGTTTGAGAGTAGATC
TGCCAATTATGTTGACAAGGGAATGATCAAAAGCTTTGTTTTTTTTAAAAAAAAAAAAAGCAGTTTCAATTGAAATATTTTCATACATCT
TTGGTTGCAAACATTTGGACTGCATTGCAATGAGTTGGGGTGTTTTTTTTTTCCTTTTTTGTATAAAATTGTATGCAAAATGGGGGTGGG
TTAGTAAGCCACATATTTCTGTCCATTGATTCAGATTTAATTCTTTCCCTTTTTCATTCTCTCGCTTCCTCAATTTGAGTTTTTGTTTTA
AGAACCCAAAGATGTCAGTTCTTCTTTTGGTACCTCATCAACGCTTCCTTTCCTGGGCTCCCTCCCGCCGTGCTGCTGCTGCCTGTGAAC
GCACGGTGGGAGAGGAAGAGCTGCTCAGTCTTGGGCAAGGAGCTCTCACACTTGCTGTGGTGTTCGTTGAGCAGCAGAGTATCTCCCAGT
GACTCCTGTTTAAATGTCTTGCCCTTTGGGCCCCCATCTCCAAGGAGTTCCATTGCTGGTTGGATGATTGTCTGCACCCCTCACTGAGCT
TGGCCTAGAGGCCCAGCCTGGCATGGTTGTGCCTGGGCTGTGCCGCTCAACAGCCCCAGCTCCCAAGCAGACAAAGACCTCTTCCAGGAG
GAGCCAGGTAGAAGATAGTTATACAGCCATATAGCTGCAGATCCAGATAACCTTCTTTCTTTGGAAGTTTTCAAGAAATTCTTAAGCAGT
CCAAGGATGATTTCAATTATGCTTCTCCATTGGGTCCTTCTGCTCATGCATTCAGTTCAAGTGTCCTTTATCCCAGGTTCAGAGATGCTG
CCTTTCTGAAGAAGACATCTGACCCTAGCAGGTTGGCCAGTGTTATTGAACAACAAAAATGGGATAAATTGCTTTCATGATTAGCTCACC
TTCTTCTGGTTTTAGCCCTTCTGTTCTCTGTACACGTGAACTTCTGTCATCTCCTTCTGGCTTGGTTGCCTCTGAAAGGAGGGAAAGTCT
CTTGGTAAATTATCTCTTTTGTGCTGTTTGCTGTTTCTCTGCTGCCGTCTTTGCAGTTCTCCTCTCACTGGTTGCAGGCTTTCATAGTAA
GGTTTGGCGAGAAATGTTCCAAACATCACATTTTGGATTCTAGGCTGTCACCCCTCATTCTGTGAAACGTATTAGCATGTGTTCGCCCAA
GATGACTATTCCTTGTGAGCCAGTTAATGATGATATTCTACGCCCTTCCCTTCTAAGCTGTAGTTCAGGAATCCAGCCCACATAGACAGA
CTCTTGCTTTCCATGGTGTAGTCAATGCCAAGTGATGCATCTAGGCAGGAAAATCTACTCTTTGCTTTTTTGGGGGCAATTAGTACATTT
GTGAAGTGCAGCATCCAAGAAACAGCCTGTTTTTTCATCCCTTGAGAAAGGAGCAGTCATTGCAGCTTTTCTGTCCTTGTCGGCCTGCAG
TTCCTGGGGAAAAGAGTACATCTGAGCTACTTGTCCAAGCCTCTGTCTGCAGGTGACAGGTTTTGGGGGAAATGAGATGCATTAAGTAGA
ACATCATCTCGGGTCAGACATTGCCCCTTTTGTTTGCCAATGCCCCAGTCCTAGAGACTTGTCCTGACAGTGCCGCACACCTACTTTTGA
TCTCTCAGAGCAGGTGGCTCCATCCCCAGACTAGCCTGGCTGCTCTCCGAGGCCCCTCCACCTGCTCCCCTTATTGCCCCATTCTTGTGG
CTTGCCGGGCCACTTGGCCTCCCTTCTTGCCGGTGACAGCGTTCCATCATCTCCCCGCTCCCCAAGGGCCAACTGCTTCTCACTCAGGCT
GGTGTCATTTCAGGAGGACCAAAGCCTGCGTGAGCCTTTTTATTTTCAGTAAAATGGTGCTTTTTTCCTTACTTCGAGATACTATATATA
AATAATAATGTAAATGACACCTTTTCGTACGGAGCTGTTTGAGTATTGCTTTACAGAGCTCACTAAATCAGCTTCAACAATCTTGAGCTC
TGTGGCTCCTCACCCTGTCTGCATGGAAGACCTTGCTGGACGCTCTCGGGAGAGCAGACATAGCACCAGAAGCCACTGGGAGAAGTGTTT
TCGATCCGTGTCTGGGCCACAGTAGTATTCACTGTTTAGTCTTTGAGTTCCGTAAGCAGTCTCTTCATACATTTCTTACAGTCTGGAGTG
TACTGACTAAATCTGTGTAAGCAAATTGAAATACTCTTTCTTTTAGGTAGCGTCACAGTGGTTTTTTTTTTCCTCAGGATAATTTCTATA
CAATTTCCTTACTGTCAGAGGGACCAGATCTTTCCCTCACTGTGGCAGGGGCCGTGCAGGTGGATAAAGGAAGAGCTGGTTTCCGGAGAG
TGACTGTAACAGCGTTGACTCGAAGCTAGAGATGGAGGGGGTGGCCGTCTCTTAGACATTGGACACCTCTCAGAGCCTCCTGAGGGCTTC
TTTGTCTTCTAGAATCTCTACCGGTGGTCCTCCTGCAGGTTCTGGCTCACAGACATCATCATGCCTTTTTTTCCCTCCCTGAGGCGCCTT
GGCAGAAGAGCGTGACCCTGTGAGCCAGGCCCCCCTTAGCTCTGCTTCAGATCACAGAACACAGACAGACTCGCGAGTTGCTGGACCTCT
TTGGTATTAAGTGTTTGAATCCATGGTGGGCCTTTTGCAAGTAGCGTTAGCTCTTTTTAAATGTTGAACTGAGCTAAGGATGCACTTTCT
TGTGGACATAGAAGGGGCCCACGTAAGGCCCTGAGTAGGCTCCTTAGTTGCTGCTTTACCTGATGAGGGCCAAAGAGATTAACTCTGCCT
CGTTGCCATGTCTCAGAAAAGTTGCCATATTTCACCCAGAAGGGGCTTGTTTTCCTCTTACTCTTACTTTAACCATGTGCCTGGAGGAGC
CATTCTGGGCTCTTGCACTTGCCCAGCCTTTCTTTGCCAGGGGCAGAGAAGGGAAAGGGGGTAGATTGAGTGTGCCAAGGGCCGTGCAAG
GGCAGGCTTGCTTTCCACCCATCTGCTGAGGGAGCCCTCTCCTCTCGCTCCTTGCCTCTGTTCACACCTGTTGTCTTGGAAGAGGATGGT
CCCTTTGTCTTAAGGCTTTGTGATAAAGTCATCTCCAGTTAGGATCTGCACCTGTTTCCTTCGTAATAGTGCCTGGCGGCCTTTCTGAAG
TTACAGGTGGTTGGGAGCCCTCTCGCATGCAGAACATCTGGTAGATTGATCTGCCAGGCTGGGTGGTTCTACTGCTTTCTCAATTTCTAA
GAACCTTTTTTTTTTCTTAAAGAGTTCTGCTGAATTATTTGACAATATTTGTAAGTACCATGTTTCCTTGTGGTGTATGCTCTGTTCTGG
TTTCTGTTTTCAAATCAAATGCCTGTTTGGGAGGAGATGAACGTATTTAGTCTATTAGATTTGCACTGCTGGATTTTTTTTTTAAAGTGT

>66650_66650_11_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000566983_UBFD1_chr16_23573527_ENST00000395878_length(amino acids)=307AA_BP=186
MDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRG
TFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFF
GDKTMPQHRKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKVRLTFKLEQDQLWIGTKERTEKLPMGSIKNVVSEPIEGHEDYHM

--------------------------------------------------------------
>66650_66650_12_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000566983_UBFD1_chr16_23573527_ENST00000567212_length(transcript)=4925nt_BP=762nt
GAACTCACGAGTCTTGCAGTCATAAAGCAGCAACATAAAGCAAGCTCCCAACTCTAGTTCTCCAGGCAATTCATCCAGGCTGTCCCCTGC
AAGCTGCTCAGCCCACCAGATCTGCTTTGGGGAGCGCATTAAACATGGTTATGCAATGATTGGGTGGCGGATGCCATAGACATCTGGCCC
TATGACAAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTT
GAGAAAGTGCAGGAGCAACTGGGAAATGATGTGGTTGAAAAATACGATTATGTGTTTCCAGAAAATGGCTTGGTAGCATACAAAGATGGG
AAACTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTACTGTCTGAGCTACATTGCGAAA
ATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAA
GAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGC
CTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGAC
GGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCACAACACAGGAAAGTGTTGGATAAAGGAAAACCTGAAGATGTGATGCCA
TCTGTTAAGGGGGCCCAGGAGCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAATAAATCTGGAGGAAAAGTGAGACTCACCTTTAAA
CTAGAACAAGACCAGCTGTGGATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATGGGCTCCATAAAAAATGTGGTCAGTGAACCTATC
GAAGGACATGAAGACTACCACATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCTTACTACTGGGTGTACTGGGTTCCAACTCAATAT
GTGGATGCAATCAAAGACACTGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTTCACCTCTGGCCCAGGAGACTGACCCAAAGTGAA
GGACATTGCCGGGAGAGGCCTGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGTTCATAAAAAATCTATATTCAATCTGAGGTGATG
TGGTGACTGAAGCCAGAGGTGATGTACTTTCACCATTAGCTTAATTTTAACTTAAAATTACCAGTTCCCTTTCTTGCAGTCAGCTTCATA
CCATTTTTAAAGTCAATACGATGGAAATCAATAAATCTGAATTCCGAACATGTTGTGTGGAATACTCTTAAGTGTGTTTGAGAGTAGATC
TGCCAATTATGTTGACAAGGGAATGATCAAAAGCTTTGTTTTTTTTAAAAAAAAAAAAAGCAGTTTCAATTGAAATATTTTCATACATCT
TTGGTTGCAAACATTTGGACTGCATTGCAATGAGTTGGGGTGTTTTTTTTTTCCTTTTTTGTATAAAATTGTATGCAAAATGGGGGTGGG
TTAGTAAGCCACATATTTCTGTCCATTGATTCAGATTTAATTCTTTCCCTTTTTCATTCTCTCGCTTCCTCAATTTGAGTTTTTGTTTTA
AGAACCCAAAGATGTCAGTTCTTCTTTTGGTACCTCATCAACGCTTCCTTTCCTGGGCTCCCTCCCGCCGTGCTGCTGCTGCCTGTGAAC
GCACGGTGGGAGAGGAAGAGCTGCTCAGTCTTGGGCAAGGAGCTCTCACACTTGCTGTGGTGTTCGTTGAGCAGCAGAGTATCTCCCAGT
GACTCCTGTTTAAATGTCTTGCCCTTTGGGCCCCCATCTCCAAGGAGTTCCATTGCTGGTTGGATGATTGTCTGCACCCCTCACTGAGCT
TGGCCTAGAGGCCCAGCCTGGCATGGTTGTGCCTGGGCTGTGCCGCTCAACAGCCCCAGCTCCCAAGCAGACAAAGACCTCTTCCAGGAG
GAGCCAGGTAGAAGATAGTTATACAGCCATATAGCTGCAGATCCAGATAACCTTCTTTCTTTGGAAGTTTTCAAGAAATTCTTAAGCAGT
CCAAGGATGATTTCAATTATGCTTCTCCATTGGGTCCTTCTGCTCATGCATTCAGTTCAAGTGTCCTTTATCCCAGGTTCAGAGATGCTG
CCTTTCTGAAGAAGACATCTGACCCTAGCAGGTTGGCCAGTGTTATTGAACAACAAAAATGGGATAAATTGCTTTCATGATTAGCTCACC
TTCTTCTGGTTTTAGCCCTTCTGTTCTCTGTACACGTGAACTTCTGTCATCTCCTTCTGGCTTGGTTGCCTCTGAAAGGAGGGAAAGTCT
CTTGGTAAATTATCTCTTTTGTGCTGTTTGCTGTTTCTCTGCTGCCGTCTTTGCAGTTCTCCTCTCACTGGTTGCAGGCTTTCATAGTAA
GGTTTGGCGAGAAATGTTCCAAACATCACATTTTGGATTCTAGGCTGTCACCCCTCATTCTGTGAAACGTATTAGCATGTGTTCGCCCAA
GATGACTATTCCTTGTGAGCCAGTTAATGATGATATTCTACGCCCTTCCCTTCTAAGCTGTAGTTCAGGAATCCAGCCCACATAGACAGA
CTCTTGCTTTCCATGGTGTAGTCAATGCCAAGTGATGCATCTAGGCAGGAAAATCTACTCTTTGCTTTTTTGGGGGCAATTAGTACATTT
GTGAAGTGCAGCATCCAAGAAACAGCCTGTTTTTTCATCCCTTGAGAAAGGAGCAGTCATTGCAGCTTTTCTGTCCTTGTCGGCCTGCAG
TTCCTGGGGAAAAGAGTACATCTGAGCTACTTGTCCAAGCCTCTGTCTGCAGGTGACAGGTTTTGGGGGAAATGAGATGCATTAAGTAGA
ACATCATCTCGGGTCAGACATTGCCCCTTTTGTTTGCCAATGCCCCAGTCCTAGAGACTTGTCCTGACAGTGCCGCACACCTACTTTTGA
TCTCTCAGAGCAGGTGGCTCCATCCCCAGACTAGCCTGGCTGCTCTCCGAGGCCCCTCCACCTGCTCCCCTTATTGCCCCATTCTTGTGG
CTTGCCGGGCCACTTGGCCTCCCTTCTTGCCGGTGACAGCGTTCCATCATCTCCCCGCTCCCCAAGGGCCAACTGCTTCTCACTCAGGCT
GGTGTCATTTCAGGAGGACCAAAGCCTGCGTGAGCCTTTTTATTTTCAGTAAAATGGTGCTTTTTTCCTTACTTCGAGATACTATATATA
AATAATAATGTAAATGACACCTTTTCGTACGGAGCTGTTTGAGTATTGCTTTACAGAGCTCACTAAATCAGCTTCAACAATCTTGAGCTC
TGTGGCTCCTCACCCTGTCTGCATGGAAGACCTTGCTGGACGCTCTCGGGAGAGCAGACATAGCACCAGAAGCCACTGGGAGAAGTGTTT
TCGATCCGTGTCTGGGCCACAGTAGTATTCACTGTTTAGTCTTTGAGTTCCGTAAGCAGTCTCTTCATACATTTCTTACAGTCTGGAGTG
TACTGACTAAATCTGTGTAAGCAAATTGAAATACTCTTTCTTTTAGGTAGCGTCACAGTGGTTTTTTTTTTCCTCAGGATAATTTCTATA
CAATTTCCTTACTGTCAGAGGGACCAGATCTTTCCCTCACTGTGGCAGGGGCCGTGCAGGTGGATAAAGGAAGAGCTGGTTTCCGGAGAG
TGACTGTAACAGCGTTGACTCGAAGCTAGAGATGGAGGGGGTGGCCGTCTCTTAGACATTGGACACCTCTCAGAGCCTCCTGAGGGCTTC
TTTGTCTTCTAGAATCTCTACCGGTGGTCCTCCTGCAGGTTCTGGCTCACAGACATCATCATGCCTTTTTTTCCCTCCCTGAGGCGCCTT
GGCAGAAGAGCGTGACCCTGTGAGCCAGGCCCCCCTTAGCTCTGCTTCAGATCACAGAACACAGACAGACTCGCGAGTTGCTGGACCTCT
TTGGTATTAAGTGTTTGAATCCATGGTGGGCCTTTTGCAAGTAGCGTTAGCTCTTTTTAAATGTTGAACTGAGCTAAGGATGCACTTTCT
TGTGGACATAGAAGGGGCCCACGTAAGGCCCTGAGTAGGCTCCTTAGTTGCTGCTTTACCTGATGAGGGCCAAAGAGATTAACTCTGCCT
CGTTGCCATGTCTCAGAAAAGTTGCCATATTTCACCCAGAAGGGGCTTGTTTTCCTCTTACTCTTACTTTAACCATGTGCCTGGAGGAGC
CATTCTGGGCTCTTGCACTTGCCCAGCCTTTCTTTGCCAGGGGCAGAGAAGGGAAAGGGGGTAGATTGAGTGTGCCAAGGGCCGTGCAAG
GGCAGGCTTGCTTTCCACCCATCTGCTGAGGGAGCCCTCTCCTCTCGCTCCTTGCCTCTGTTCACACCTGTTGTCTTGGAAGAGGATGGT
CCCTTTGTCTTAAGGCTTTGTGATAAAGTCATCTCCAGTTAGGATCTGCACCTGTTTCCTTCGTAATAGTGCCTGGCGGCCTTTCTGAAG
TTACAGGTGGTTGGGAGCCCTCTCGCATGCAGAACATCTGGTAGATTGATCTGCCAGGCTGGGTGGTTCTACTGCTTTCTCAATTTCTAA
GAACCTTTTTTTTTTCTTAAAGAGTTCTGCTGAATTATTTGACAATATTTGTAAGTACCATGTTTCCTTGTGGTGTATGCTCTGTTCTGG
TTTCTGTTTTCAAATCAAATGCCTGTTTGGGAGGAGATGAACGTATTTAGTCTATTAGATTTGCACTGCTGGATTTTTTTTTTAAAGTGT

>66650_66650_12_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000566983_UBFD1_chr16_23573527_ENST00000567212_length(amino acids)=307AA_BP=186
MDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRG
TFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFF
GDKTMPQHRKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKVRLTFKLEQDQLWIGTKERTEKLPMGSIKNVVSEPIEGHEDYHM

--------------------------------------------------------------
>66650_66650_13_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000569958_UBFD1_chr16_23573527_ENST00000219638_length(transcript)=1016nt_BP=382nt
GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC
CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA
ACTGGGAAATGATGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGG
CCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTT
CTTTGGAGACAAAACTATGCCACAACACAGGAAAGTGTTGGATAAAGGAAAACCTGAAGATGTGATGCCATCTGTTAAGGGGGCCCAGGA
GCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAATAAATCTGGAGGAAAAGTGAGACTCACCTTTAAACTAGAACAAGACCAGCTGTG
GATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATGGGCTCCATAAAAAATGTGGTCAGTGAACCTATCGAAGGACATGAAGACTACCA
CATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCTTACTACTGGGTGTACTGGGTTCCAACTCAATATGTGGATGCAATCAAAGACAC
TGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTTCACCTCTGGCCCAGGAGACTGACCCAAAGTGAAGGACATTGCCGGGAGAGGCC
TGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGTTCATAAAAAATCTATATTCAATCTGAGGTGATGTGGTGACTGAAGCCAGAGGT
GATGTACTTTCACCATTAGCTTAATTTTAACTTAAAATTACCAGTTCCCTTTCTTGCAGTCAGCTTCATACCATTTTTAAAGTCAATACG

>66650_66650_13_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000569958_UBFD1_chr16_23573527_ENST00000219638_length(amino acids)=243AA_BP=122
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDENIRQKFVADLRKEFAGKGLTFSIGGQISFD
VFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPQHRKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKVRLTFKLEQDQLWIGTKE

--------------------------------------------------------------
>66650_66650_14_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000569958_UBFD1_chr16_23573527_ENST00000395878_length(transcript)=4547nt_BP=382nt
GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC
CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA
ACTGGGAAATGATGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGG
CCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTT
CTTTGGAGACAAAACTATGCCACAACACAGGAAAGTGTTGGATAAAGGAAAACCTGAAGATGTGATGCCATCTGTTAAGGGGGCCCAGGA
GCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAATAAATCTGGAGGAAAAGTGAGACTCACCTTTAAACTAGAACAAGACCAGCTGTG
GATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATGGGCTCCATAAAAAATGTGGTCAGTGAACCTATCGAAGGACATGAAGACTACCA
CATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCTTACTACTGGGTGTACTGGGTTCCAACTCAATATGTGGATGCAATCAAAGACAC
TGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTTCACCTCTGGCCCAGGAGACTGACCCAAAGTGAAGGACATTGCCGGGAGAGGCC
TGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGTTCATAAAAAATCTATATTCAATCTGAGGTGATGTGGTGACTGAAGCCAGAGGT
GATGTACTTTCACCATTAGCTTAATTTTAACTTAAAATTACCAGTTCCCTTTCTTGCAGTCAGCTTCATACCATTTTTAAAGTCAATACG
ATGGAAATCAATAAATCTGAATTCCGAACATGTTGTGTGGAATACTCTTAAGTGTGTTTGAGAGTAGATCTGCCAATTATGTTGACAAGG
GAATGATCAAAAGCTTTGTTTTTTTTAAAAAAAAAAAAAGCAGTTTCAATTGAAATATTTTCATACATCTTTGGTTGCAAACATTTGGAC
TGCATTGCAATGAGTTGGGGTGTTTTTTTTTTCCTTTTTTGTATAAAATTGTATGCAAAATGGGGGTGGGTTAGTAAGCCACATATTTCT
GTCCATTGATTCAGATTTAATTCTTTCCCTTTTTCATTCTCTCGCTTCCTCAATTTGAGTTTTTGTTTTAAGAACCCAAAGATGTCAGTT
CTTCTTTTGGTACCTCATCAACGCTTCCTTTCCTGGGCTCCCTCCCGCCGTGCTGCTGCTGCCTGTGAACGCACGGTGGGAGAGGAAGAG
CTGCTCAGTCTTGGGCAAGGAGCTCTCACACTTGCTGTGGTGTTCGTTGAGCAGCAGAGTATCTCCCAGTGACTCCTGTTTAAATGTCTT
GCCCTTTGGGCCCCCATCTCCAAGGAGTTCCATTGCTGGTTGGATGATTGTCTGCACCCCTCACTGAGCTTGGCCTAGAGGCCCAGCCTG
GCATGGTTGTGCCTGGGCTGTGCCGCTCAACAGCCCCAGCTCCCAAGCAGACAAAGACCTCTTCCAGGAGGAGCCAGGTAGAAGATAGTT
ATACAGCCATATAGCTGCAGATCCAGATAACCTTCTTTCTTTGGAAGTTTTCAAGAAATTCTTAAGCAGTCCAAGGATGATTTCAATTAT
GCTTCTCCATTGGGTCCTTCTGCTCATGCATTCAGTTCAAGTGTCCTTTATCCCAGGTTCAGAGATGCTGCCTTTCTGAAGAAGACATCT
GACCCTAGCAGGTTGGCCAGTGTTATTGAACAACAAAAATGGGATAAATTGCTTTCATGATTAGCTCACCTTCTTCTGGTTTTAGCCCTT
CTGTTCTCTGTACACGTGAACTTCTGTCATCTCCTTCTGGCTTGGTTGCCTCTGAAAGGAGGGAAAGTCTCTTGGTAAATTATCTCTTTT
GTGCTGTTTGCTGTTTCTCTGCTGCCGTCTTTGCAGTTCTCCTCTCACTGGTTGCAGGCTTTCATAGTAAGGTTTGGCGAGAAATGTTCC
AAACATCACATTTTGGATTCTAGGCTGTCACCCCTCATTCTGTGAAACGTATTAGCATGTGTTCGCCCAAGATGACTATTCCTTGTGAGC
CAGTTAATGATGATATTCTACGCCCTTCCCTTCTAAGCTGTAGTTCAGGAATCCAGCCCACATAGACAGACTCTTGCTTTCCATGGTGTA
GTCAATGCCAAGTGATGCATCTAGGCAGGAAAATCTACTCTTTGCTTTTTTGGGGGCAATTAGTACATTTGTGAAGTGCAGCATCCAAGA
AACAGCCTGTTTTTTCATCCCTTGAGAAAGGAGCAGTCATTGCAGCTTTTCTGTCCTTGTCGGCCTGCAGTTCCTGGGGAAAAGAGTACA
TCTGAGCTACTTGTCCAAGCCTCTGTCTGCAGGTGACAGGTTTTGGGGGAAATGAGATGCATTAAGTAGAACATCATCTCGGGTCAGACA
TTGCCCCTTTTGTTTGCCAATGCCCCAGTCCTAGAGACTTGTCCTGACAGTGCCGCACACCTACTTTTGATCTCTCAGAGCAGGTGGCTC
CATCCCCAGACTAGCCTGGCTGCTCTCCGAGGCCCCTCCACCTGCTCCCCTTATTGCCCCATTCTTGTGGCTTGCCGGGCCACTTGGCCT
CCCTTCTTGCCGGTGACAGCGTTCCATCATCTCCCCGCTCCCCAAGGGCCAACTGCTTCTCACTCAGGCTGGTGTCATTTCAGGAGGACC
AAAGCCTGCGTGAGCCTTTTTATTTTCAGTAAAATGGTGCTTTTTTCCTTACTTCGAGATACTATATATAAATAATAATGTAAATGACAC
CTTTTCGTACGGAGCTGTTTGAGTATTGCTTTACAGAGCTCACTAAATCAGCTTCAACAATCTTGAGCTCTGTGGCTCCTCACCCTGTCT
GCATGGAAGACCTTGCTGGACGCTCTCGGGAGAGCAGACATAGCACCAGAAGCCACTGGGAGAAGTGTTTTCGATCCGTGTCTGGGCCAC
AGTAGTATTCACTGTTTAGTCTTTGAGTTCCGTAAGCAGTCTCTTCATACATTTCTTACAGTCTGGAGTGTACTGACTAAATCTGTGTAA
GCAAATTGAAATACTCTTTCTTTTAGGTAGCGTCACAGTGGTTTTTTTTTTCCTCAGGATAATTTCTATACAATTTCCTTACTGTCAGAG
GGACCAGATCTTTCCCTCACTGTGGCAGGGGCCGTGCAGGTGGATAAAGGAAGAGCTGGTTTCCGGAGAGTGACTGTAACAGCGTTGACT
CGAAGCTAGAGATGGAGGGGGTGGCCGTCTCTTAGACATTGGACACCTCTCAGAGCCTCCTGAGGGCTTCTTTGTCTTCTAGAATCTCTA
CCGGTGGTCCTCCTGCAGGTTCTGGCTCACAGACATCATCATGCCTTTTTTTCCCTCCCTGAGGCGCCTTGGCAGAAGAGCGTGACCCTG
TGAGCCAGGCCCCCCTTAGCTCTGCTTCAGATCACAGAACACAGACAGACTCGCGAGTTGCTGGACCTCTTTGGTATTAAGTGTTTGAAT
CCATGGTGGGCCTTTTGCAAGTAGCGTTAGCTCTTTTTAAATGTTGAACTGAGCTAAGGATGCACTTTCTTGTGGACATAGAAGGGGCCC
ACGTAAGGCCCTGAGTAGGCTCCTTAGTTGCTGCTTTACCTGATGAGGGCCAAAGAGATTAACTCTGCCTCGTTGCCATGTCTCAGAAAA
GTTGCCATATTTCACCCAGAAGGGGCTTGTTTTCCTCTTACTCTTACTTTAACCATGTGCCTGGAGGAGCCATTCTGGGCTCTTGCACTT
GCCCAGCCTTTCTTTGCCAGGGGCAGAGAAGGGAAAGGGGGTAGATTGAGTGTGCCAAGGGCCGTGCAAGGGCAGGCTTGCTTTCCACCC
ATCTGCTGAGGGAGCCCTCTCCTCTCGCTCCTTGCCTCTGTTCACACCTGTTGTCTTGGAAGAGGATGGTCCCTTTGTCTTAAGGCTTTG
TGATAAAGTCATCTCCAGTTAGGATCTGCACCTGTTTCCTTCGTAATAGTGCCTGGCGGCCTTTCTGAAGTTACAGGTGGTTGGGAGCCC
TCTCGCATGCAGAACATCTGGTAGATTGATCTGCCAGGCTGGGTGGTTCTACTGCTTTCTCAATTTCTAAGAACCTTTTTTTTTTCTTAA
AGAGTTCTGCTGAATTATTTGACAATATTTGTAAGTACCATGTTTCCTTGTGGTGTATGCTCTGTTCTGGTTTCTGTTTTCAAATCAAAT
GCCTGTTTGGGAGGAGATGAACGTATTTAGTCTATTAGATTTGCACTGCTGGATTTTTTTTTTAAAGTGTAACCTTGAATAGCTGTCTTA

>66650_66650_14_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000569958_UBFD1_chr16_23573527_ENST00000395878_length(amino acids)=243AA_BP=122
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDENIRQKFVADLRKEFAGKGLTFSIGGQISFD
VFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPQHRKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKVRLTFKLEQDQLWIGTKE

--------------------------------------------------------------
>66650_66650_15_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000569958_UBFD1_chr16_23573527_ENST00000567212_length(transcript)=4545nt_BP=382nt
GCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTAC
CAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCA
ACTGGGAAATGATGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGG
CCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTT
CTTTGGAGACAAAACTATGCCACAACACAGGAAAGTGTTGGATAAAGGAAAACCTGAAGATGTGATGCCATCTGTTAAGGGGGCCCAGGA
GCGCCTGCCAACGGTACCGCTGTCCGGCATGTACAATAAATCTGGAGGAAAAGTGAGACTCACCTTTAAACTAGAACAAGACCAGCTGTG
GATTGGCACTAAAGAGCGGACTGAGAAATTGCCCATGGGCTCCATAAAAAATGTGGTCAGTGAACCTATCGAAGGACATGAAGACTACCA
CATGATGGCGTTTCAGTTGGGCCCCACGGAAGCCTCTTACTACTGGGTGTACTGGGTTCCAACTCAATATGTGGATGCAATCAAAGACAC
TGTGCTGGGGAAATGGCAGTATTTTTGAAAGCACTTTCACCTCTGGCCCAGGAGACTGACCCAAAGTGAAGGACATTGCCGGGAGAGGCC
TGCAGCATCCCTGGATTTCAGAGTTCTGGAACTTTGTTCATAAAAAATCTATATTCAATCTGAGGTGATGTGGTGACTGAAGCCAGAGGT
GATGTACTTTCACCATTAGCTTAATTTTAACTTAAAATTACCAGTTCCCTTTCTTGCAGTCAGCTTCATACCATTTTTAAAGTCAATACG
ATGGAAATCAATAAATCTGAATTCCGAACATGTTGTGTGGAATACTCTTAAGTGTGTTTGAGAGTAGATCTGCCAATTATGTTGACAAGG
GAATGATCAAAAGCTTTGTTTTTTTTAAAAAAAAAAAAAGCAGTTTCAATTGAAATATTTTCATACATCTTTGGTTGCAAACATTTGGAC
TGCATTGCAATGAGTTGGGGTGTTTTTTTTTTCCTTTTTTGTATAAAATTGTATGCAAAATGGGGGTGGGTTAGTAAGCCACATATTTCT
GTCCATTGATTCAGATTTAATTCTTTCCCTTTTTCATTCTCTCGCTTCCTCAATTTGAGTTTTTGTTTTAAGAACCCAAAGATGTCAGTT
CTTCTTTTGGTACCTCATCAACGCTTCCTTTCCTGGGCTCCCTCCCGCCGTGCTGCTGCTGCCTGTGAACGCACGGTGGGAGAGGAAGAG
CTGCTCAGTCTTGGGCAAGGAGCTCTCACACTTGCTGTGGTGTTCGTTGAGCAGCAGAGTATCTCCCAGTGACTCCTGTTTAAATGTCTT
GCCCTTTGGGCCCCCATCTCCAAGGAGTTCCATTGCTGGTTGGATGATTGTCTGCACCCCTCACTGAGCTTGGCCTAGAGGCCCAGCCTG
GCATGGTTGTGCCTGGGCTGTGCCGCTCAACAGCCCCAGCTCCCAAGCAGACAAAGACCTCTTCCAGGAGGAGCCAGGTAGAAGATAGTT
ATACAGCCATATAGCTGCAGATCCAGATAACCTTCTTTCTTTGGAAGTTTTCAAGAAATTCTTAAGCAGTCCAAGGATGATTTCAATTAT
GCTTCTCCATTGGGTCCTTCTGCTCATGCATTCAGTTCAAGTGTCCTTTATCCCAGGTTCAGAGATGCTGCCTTTCTGAAGAAGACATCT
GACCCTAGCAGGTTGGCCAGTGTTATTGAACAACAAAAATGGGATAAATTGCTTTCATGATTAGCTCACCTTCTTCTGGTTTTAGCCCTT
CTGTTCTCTGTACACGTGAACTTCTGTCATCTCCTTCTGGCTTGGTTGCCTCTGAAAGGAGGGAAAGTCTCTTGGTAAATTATCTCTTTT
GTGCTGTTTGCTGTTTCTCTGCTGCCGTCTTTGCAGTTCTCCTCTCACTGGTTGCAGGCTTTCATAGTAAGGTTTGGCGAGAAATGTTCC
AAACATCACATTTTGGATTCTAGGCTGTCACCCCTCATTCTGTGAAACGTATTAGCATGTGTTCGCCCAAGATGACTATTCCTTGTGAGC
CAGTTAATGATGATATTCTACGCCCTTCCCTTCTAAGCTGTAGTTCAGGAATCCAGCCCACATAGACAGACTCTTGCTTTCCATGGTGTA
GTCAATGCCAAGTGATGCATCTAGGCAGGAAAATCTACTCTTTGCTTTTTTGGGGGCAATTAGTACATTTGTGAAGTGCAGCATCCAAGA
AACAGCCTGTTTTTTCATCCCTTGAGAAAGGAGCAGTCATTGCAGCTTTTCTGTCCTTGTCGGCCTGCAGTTCCTGGGGAAAAGAGTACA
TCTGAGCTACTTGTCCAAGCCTCTGTCTGCAGGTGACAGGTTTTGGGGGAAATGAGATGCATTAAGTAGAACATCATCTCGGGTCAGACA
TTGCCCCTTTTGTTTGCCAATGCCCCAGTCCTAGAGACTTGTCCTGACAGTGCCGCACACCTACTTTTGATCTCTCAGAGCAGGTGGCTC
CATCCCCAGACTAGCCTGGCTGCTCTCCGAGGCCCCTCCACCTGCTCCCCTTATTGCCCCATTCTTGTGGCTTGCCGGGCCACTTGGCCT
CCCTTCTTGCCGGTGACAGCGTTCCATCATCTCCCCGCTCCCCAAGGGCCAACTGCTTCTCACTCAGGCTGGTGTCATTTCAGGAGGACC
AAAGCCTGCGTGAGCCTTTTTATTTTCAGTAAAATGGTGCTTTTTTCCTTACTTCGAGATACTATATATAAATAATAATGTAAATGACAC
CTTTTCGTACGGAGCTGTTTGAGTATTGCTTTACAGAGCTCACTAAATCAGCTTCAACAATCTTGAGCTCTGTGGCTCCTCACCCTGTCT
GCATGGAAGACCTTGCTGGACGCTCTCGGGAGAGCAGACATAGCACCAGAAGCCACTGGGAGAAGTGTTTTCGATCCGTGTCTGGGCCAC
AGTAGTATTCACTGTTTAGTCTTTGAGTTCCGTAAGCAGTCTCTTCATACATTTCTTACAGTCTGGAGTGTACTGACTAAATCTGTGTAA
GCAAATTGAAATACTCTTTCTTTTAGGTAGCGTCACAGTGGTTTTTTTTTTCCTCAGGATAATTTCTATACAATTTCCTTACTGTCAGAG
GGACCAGATCTTTCCCTCACTGTGGCAGGGGCCGTGCAGGTGGATAAAGGAAGAGCTGGTTTCCGGAGAGTGACTGTAACAGCGTTGACT
CGAAGCTAGAGATGGAGGGGGTGGCCGTCTCTTAGACATTGGACACCTCTCAGAGCCTCCTGAGGGCTTCTTTGTCTTCTAGAATCTCTA
CCGGTGGTCCTCCTGCAGGTTCTGGCTCACAGACATCATCATGCCTTTTTTTCCCTCCCTGAGGCGCCTTGGCAGAAGAGCGTGACCCTG
TGAGCCAGGCCCCCCTTAGCTCTGCTTCAGATCACAGAACACAGACAGACTCGCGAGTTGCTGGACCTCTTTGGTATTAAGTGTTTGAAT
CCATGGTGGGCCTTTTGCAAGTAGCGTTAGCTCTTTTTAAATGTTGAACTGAGCTAAGGATGCACTTTCTTGTGGACATAGAAGGGGCCC
ACGTAAGGCCCTGAGTAGGCTCCTTAGTTGCTGCTTTACCTGATGAGGGCCAAAGAGATTAACTCTGCCTCGTTGCCATGTCTCAGAAAA
GTTGCCATATTTCACCCAGAAGGGGCTTGTTTTCCTCTTACTCTTACTTTAACCATGTGCCTGGAGGAGCCATTCTGGGCTCTTGCACTT
GCCCAGCCTTTCTTTGCCAGGGGCAGAGAAGGGAAAGGGGGTAGATTGAGTGTGCCAAGGGCCGTGCAAGGGCAGGCTTGCTTTCCACCC
ATCTGCTGAGGGAGCCCTCTCCTCTCGCTCCTTGCCTCTGTTCACACCTGTTGTCTTGGAAGAGGATGGTCCCTTTGTCTTAAGGCTTTG
TGATAAAGTCATCTCCAGTTAGGATCTGCACCTGTTTCCTTCGTAATAGTGCCTGGCGGCCTTTCTGAAGTTACAGGTGGTTGGGAGCCC
TCTCGCATGCAGAACATCTGGTAGATTGATCTGCCAGGCTGGGTGGTTCTACTGCTTTCTCAATTTCTAAGAACCTTTTTTTTTTCTTAA
AGAGTTCTGCTGAATTATTTGACAATATTTGTAAGTACCATGTTTCCTTGTGGTGTATGCTCTGTTCTGGTTTCTGTTTTCAAATCAAAT
GCCTGTTTGGGAGGAGATGAACGTATTTAGTCTATTAGATTTGCACTGCTGGATTTTTTTTTTAAAGTGTAACCTTGAATAGCTGTCTTA

>66650_66650_15_PMM2-UBFD1_PMM2_chr16_8906963_ENST00000569958_UBFD1_chr16_23573527_ENST00000567212_length(amino acids)=243AA_BP=122
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDENIRQKFVADLRKEFAGKGLTFSIGGQISFD
VFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPQHRKVLDKGKPEDVMPSVKGAQERLPTVPLSGMYNKSGGKVRLTFKLEQDQLWIGTKE

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Fusion Gene PPI Analysis for PMM2-UBFD1


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

ChiPPI page.


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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


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


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


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Related Drugs for PMM2-UBFD1


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

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Related Diseases for PMM2-UBFD1


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