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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:SLC12A2-PDHA1 (FusionGDB2 ID:82217)

Fusion Gene Summary for SLC12A2-PDHA1

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC12A2-PDHA1
Fusion gene ID: 82217
HgeneTgene
Gene symbol

SLC12A2

PDHA1

Gene ID

6558

5160

Gene namesolute carrier family 12 member 2pyruvate dehydrogenase E1 subunit alpha 1
SynonymsBSC|BSC2|NKCC1|PPP1R141PDHA|PDHAD|PDHCE1A|PHE1A
Cytomap

5q23.3

Xp22.12

Type of geneprotein-codingprotein-coding
Descriptionsolute carrier family 12 member 2basolateral Na-K-Cl symporterbumetanide-sensitive sodium-(potassium)-chloride cotransporter 1bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2protein phosphatase 1, regulatory subunit 141solute carrier pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrialPDHE1-A type Ipyruvate dehydrogenase (lipoamide) alpha 1pyruvate dehydrogenase E1 alpha 1 subunitpyruvate dehydrogenase E1 subunitpyruvate dehydrogenase alpha 1pyruvate de
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000262461, ENST00000343225, 
ENST00000507791, 		ENST00000379804, 
ENST00000478795, ENST00000379805, 
ENST00000379806, ENST00000422285, 
ENST00000540249, ENST00000545074, 
Fusion gene scores* DoF score14 X 13 X 4=7288 X 8 X 4=256
# samples 169
** MAII scorelog2(16/728*10)=-2.18586654531133
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/256*10)=-1.50814690367033
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC12A2 [Title/Abstract] AND PDHA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSLC12A2(127420402)-PDHA1(19367430), # samples:2
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
HgeneSLC12A2

GO:0015696

ammonium transport

12946942|18032481

HgeneSLC12A2

GO:0030321

transepithelial chloride transport

12946942

HgeneSLC12A2

GO:0070634

transepithelial ammonium transport

18032481

TgenePDHA1

GO:0006086

acetyl-CoA biosynthetic process from pyruvate

19081061


check buttonFusion gene breakpoints across SLC12A2 (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 PDHA1 (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
ChimerDB4STADTCGA-CD-8535-01ASLC12A2chr5

127420402

+PDHA1chrX

19367430

+


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Fusion Gene ORF analysis for SLC12A2-PDHA1

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-intronENST00000262461ENST00000379804SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
5CDS-intronENST00000262461ENST00000478795SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
5CDS-intronENST00000343225ENST00000379804SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
5CDS-intronENST00000343225ENST00000478795SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
In-frameENST00000262461ENST00000379805SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
In-frameENST00000262461ENST00000379806SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
In-frameENST00000262461ENST00000422285SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
In-frameENST00000262461ENST00000540249SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
In-frameENST00000262461ENST00000545074SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
In-frameENST00000343225ENST00000379805SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
In-frameENST00000343225ENST00000379806SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
In-frameENST00000343225ENST00000422285SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
In-frameENST00000343225ENST00000540249SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
In-frameENST00000343225ENST00000545074SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
intron-3CDSENST00000507791ENST00000379805SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
intron-3CDSENST00000507791ENST00000379806SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
intron-3CDSENST00000507791ENST00000422285SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
intron-3CDSENST00000507791ENST00000540249SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
intron-3CDSENST00000507791ENST00000545074SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
intron-intronENST00000507791ENST00000379804SLC12A2chr5

127420402

+PDHA1chrX

19367430

+
intron-intronENST00000507791ENST00000478795SLC12A2chr5

127420402

+PDHA1chrX

19367430

+

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)
ENST00000262461SLC12A2chr5127420402+ENST00000545074PDHA1chrX19367430+4134945332081682
ENST00000262461SLC12A2chr5127420402+ENST00000540249PDHA1chrX19367430+4020945331967644
ENST00000262461SLC12A2chr5127420402+ENST00000379806PDHA1chrX19367430+4113945332060675
ENST00000262461SLC12A2chr5127420402+ENST00000422285PDHA1chrX19367430+4093945332060675
ENST00000262461SLC12A2chr5127420402+ENST00000379805PDHA1chrX19367430+1552945331430465
ENST00000343225SLC12A2chr5127420402+ENST00000545074PDHA1chrX19367430+405286381999663
ENST00000343225SLC12A2chr5127420402+ENST00000540249PDHA1chrX19367430+393886381885625
ENST00000343225SLC12A2chr5127420402+ENST00000379806PDHA1chrX19367430+403186381978656
ENST00000343225SLC12A2chr5127420402+ENST00000422285PDHA1chrX19367430+401186381978656
ENST00000343225SLC12A2chr5127420402+ENST00000379805PDHA1chrX19367430+147086381348446

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
ENST00000262461ENST00000545074SLC12A2chr5127420402+PDHA1chrX19367430+0.0012285780.99877137
ENST00000262461ENST00000540249SLC12A2chr5127420402+PDHA1chrX19367430+0.0014375590.9985625
ENST00000262461ENST00000379806SLC12A2chr5127420402+PDHA1chrX19367430+0.0016015930.99839836
ENST00000262461ENST00000422285SLC12A2chr5127420402+PDHA1chrX19367430+0.0017173360.9982827
ENST00000262461ENST00000379805SLC12A2chr5127420402+PDHA1chrX19367430+0.0054521570.9945478
ENST00000343225ENST00000545074SLC12A2chr5127420402+PDHA1chrX19367430+0.0011303370.9988696
ENST00000343225ENST00000540249SLC12A2chr5127420402+PDHA1chrX19367430+0.0013081210.99869186
ENST00000343225ENST00000379806SLC12A2chr5127420402+PDHA1chrX19367430+0.0014695120.9985305
ENST00000343225ENST00000422285SLC12A2chr5127420402+PDHA1chrX19367430+0.0015765630.99842346
ENST00000343225ENST00000379805SLC12A2chr5127420402+PDHA1chrX19367430+0.0051238070.9948762

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Fusion Genomic Features for SLC12A2-PDHA1


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)
SLC12A2chr5127420402+PDHA1chrX19367429+3.26E-050.99996746
SLC12A2chr5127420402+PDHA1chrX19367429+3.26E-050.99996746

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 SLC12A2-PDHA1


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/chr5:127420402/chrX:19367430)
- 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
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127188_1942521213.0Compositional biasNote=Poly-Gly
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+12790_1222521213.0Compositional biasNote=Ala-rich
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126188_1942521197.0Compositional biasNote=Poly-Gly
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+12690_1222521197.0Compositional biasNote=Ala-rich

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127287_2992521213.0IntramembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127300_3072521213.0IntramembraneOntology_term=ECO:0000305
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127308_3132521213.0IntramembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127487_4982521213.0IntramembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127499_5002521213.0IntramembraneOntology_term=ECO:0000305
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127501_5072521213.0IntramembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126287_2992521197.0IntramembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126300_3072521197.0IntramembraneOntology_term=ECO:0000305
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126308_3132521197.0IntramembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126487_4982521197.0IntramembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126499_5002521197.0IntramembraneOntology_term=ECO:0000305
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126501_5072521197.0IntramembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+1271_2862521213.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127314_3212521213.0Topological domainExtracellular
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127344_3612521213.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127398_4062521213.0Topological domainExtracellular
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127425_4292521213.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127455_4862521213.0Topological domainExtracellular
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127508_5142521213.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127543_5992521213.0Topological domainExtracellular
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127633_6532521213.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127669_6702521213.0Topological domainExtracellular
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127698_7112521213.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127731_7312521213.0Topological domainExtracellular
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127752_12122521213.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+1261_2862521197.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126314_3212521197.0Topological domainExtracellular
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126344_3612521197.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126398_4062521197.0Topological domainExtracellular
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126425_4292521197.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126455_4862521197.0Topological domainExtracellular
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126508_5142521197.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126543_5992521197.0Topological domainExtracellular
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126633_6532521197.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126669_6702521197.0Topological domainExtracellular
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126698_7112521197.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126731_7312521197.0Topological domainExtracellular
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126752_12122521197.0Topological domainCytoplasmic
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127287_3132521213.0TransmembraneDiscontinuously helical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127322_3432521213.0TransmembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127407_4242521213.0TransmembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127430_4542521213.0TransmembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127487_5072521213.0TransmembraneDiscontinuously helical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127515_5422521213.0TransmembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127600_6322521213.0TransmembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127654_6682521213.0TransmembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000262461+127712_7302521213.0TransmembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126287_3132521197.0TransmembraneDiscontinuously helical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126322_3432521197.0TransmembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126407_4242521197.0TransmembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126430_4542521197.0TransmembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126487_5072521197.0TransmembraneDiscontinuously helical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126515_5422521197.0TransmembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126600_6322521197.0TransmembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126654_6682521197.0TransmembraneHelical
HgeneSLC12A2chr5:127420402chrX:19367430ENST00000343225+126712_7302521197.0TransmembraneHelical


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Fusion Gene Sequence for SLC12A2-PDHA1


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.
>82217_82217_1_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000262461_PDHA1_chrX_19367430_ENST00000379805_length(transcript)=1552nt_BP=945nt
ACACTCGCGCGCTCGCTCGGCTGCCGGTGGCCTCTGTGGCCGTCCAGGCTAGCGGCGGCCCGCAGGCGGCGGGGAGAAAGACTCTCTCAC
CTGGTCTTGCGGCTGTGGCCACCGCCGGCCAGGGGTGTGGAGGGCGTGCTGCCGGAGACGTCCGCCGGGCTCTGCAGTTCCGCCGGGGGT
CGGGCAGCTATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAGACGCCGTCAGCCGCTGCGCTG
GCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCCTCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCGGGGTCCGC
GATGAGGGCCCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGTTTCCAGGTGGACCTGGTTTCC
GAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGCAGACCCCC
GCGGACGGGGAAGCCAGCGGCGAGAGCGAGCCGGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGCGTGAACTTCGTGGACCCAGCT
GCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCCGGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCGGGGACACG
GTGCTGAGCGAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTATTATGATACCCACACCAACACC
TACTACCTGCGCACCTTCGGCCACAACACCATGGACGCTGTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGGGCGAGAAG
CTGCTCCGGCCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCT
ACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAAGAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGCTCAAATAC
TACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTCACTTGTGT
GATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACT
TTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGATCGATGCAC
ATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGTAGTCAAGGACGAGGATTGTGTGCTGCTTTAGATTTGGCCC
TGGACTTTGTCTTCAAAAACTTTCACAGCCCCAGACAACTTTTCCTGAAGTAGTACAGCCATGTGCTGCACAGTGACGCTTTGGTCAATG

>82217_82217_1_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000262461_PDHA1_chrX_19367430_ENST00000379805_length(amino acids)=465AA_BP=303
MWPSRLAAARRRRGERLSHLVLRLWPPPARGVEGVLPETSAGLCSSAGGRAAMEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTA
VPSVPEDAAPASRDGGGVRDEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEP
AKGSEEAKGRFRVNFVDPAASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTM
DAVPRIDHYRHTAAQLGEKLLRPSLAELHDELEKASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRME
LKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNG

--------------------------------------------------------------
>82217_82217_2_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000262461_PDHA1_chrX_19367430_ENST00000379806_length(transcript)=4113nt_BP=945nt
ACACTCGCGCGCTCGCTCGGCTGCCGGTGGCCTCTGTGGCCGTCCAGGCTAGCGGCGGCCCGCAGGCGGCGGGGAGAAAGACTCTCTCAC
CTGGTCTTGCGGCTGTGGCCACCGCCGGCCAGGGGTGTGGAGGGCGTGCTGCCGGAGACGTCCGCCGGGCTCTGCAGTTCCGCCGGGGGT
CGGGCAGCTATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAGACGCCGTCAGCCGCTGCGCTG
GCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCCTCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCGGGGTCCGC
GATGAGGGCCCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGTTTCCAGGTGGACCTGGTTTCC
GAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGCAGACCCCC
GCGGACGGGGAAGCCAGCGGCGAGAGCGAGCCGGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGCGTGAACTTCGTGGACCCAGCT
GCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCCGGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCGGGGACACG
GTGCTGAGCGAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTATTATGATACCCACACCAACACC
TACTACCTGCGCACCTTCGGCCACAACACCATGGACGCTGTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGGGCGAGAAG
CTGCTCCGGCCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCT
ACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAAGAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGCTCAAATAC
TACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTCACTTGTGT
GATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACT
TTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGATCGATGCAC
ATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGTGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAAT
GGAAAAGATGAGGTCTGCCTGACTTTATATGGCGATGGTGCTGCTAACCAGGGCCAGATATTCGAAGCTTACAACATGGCAGCTTTGTGG
AAATTACCTTGTATTTTCATCTGTGAGAATAATCGCTATGGAATGGGAACGTCTGTTGAGAGAGCGGCAGCCAGCACTGATTACTACAAG
AGAGGCGATTTCATTCCTGGGCTGAGAGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGA
TCTGGGAAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGTTACCGTACACGA
GAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTGTGGAAGAA
CTAAAGGAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGCTGCCCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGGAAGAGCTG
GGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCGTGGTGCCAATCAGTGGATCAAGTTTAAGTCAGTCAGTTAAGGGGAGGAG
AAGGAGAGGTTATACCTTCAGGGGGCTACCAGACAGTGTTCTCAACTTGGTTAAGGAGGAAGAAAACCCAGTCAATGAAATTCAATGAAA
TTCTTGGAAACTTCCATTAAGTGTGTAGATTGAGCAGGTAGTAATTGCATGCAGTTTGTACATTAGTGCATTAAAAGATGAATTATTGAG
TGCTTAAAGATTATTTTTGACTTAAAATAGTATACTTTGAACAAATACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTT
CCCCTGCCCCCAGCCACCTTTTTGGGAGGAGACCATTATGGCGGGGCCCCTCACAGCATTCTACCAACCATAGCACCCACCCCGAGCAGC
GCTGGTGCTGCAGCCTGTTCGCGCTGACCATTTCTCTACAAGATACAATATTTATTATCAGGCAAGAGGACAGTTCCATTTTAAAATAAG
ACTTTTGTAATCATTCCAATTTTGTAATCATTTCAAAGGCCACATAACTTAGTTTTCTCTACTTACACATTCAGTATAAATATGAAGCTA
TTTTCTGTTCATATCAAACATTAACTACAAGGCACATTCGTATCAGTTTTGTGTTTCTCAAATTGAAGTACCATACCAGTTCTGAGGCAG
TGTCCCAGCTTCCATGTTTGTTAAATACCCCTTGTTTGTTTCACCATTCCAGCAAGTGCTGAAGGGTGTACTTTTTTTGAGACAGGGTCG
GGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCCACACCTCCTGGGCTCAAGCAATCCTCCCACCTCA
GCCTCCTGCATAGCTGGGACTACAAGTGAATTTCCTAATATTCCGGGAGGTCAAAACCAAGGCTCACTGTTTTCACAATACACACAGTTC
TATGTTTATAAATAACAGGTTTCAAAAGAAACTCAGGACAGTATTTAAAACAAGTTCTTAAACTATTAATTGAACAATGGCATTTTTAAA
TATGTAAACACAGCGGAATTCGTGTATACACTAACAGAAGCTTTAACAAAACATGTAGCGTGGTGGGACACTCTGCCACAGCTTAGCTGA
TTGGTATCAAGCCTTGTCTTTGGTTTCTGAGGCCTCCTGAGCCCTTCTGTACTGGGAGACCGCACTCCAGAGTCTGCAGAGGAGACCACC
CCTGGGAAACAAACACAGCTGTCTTCAGAGTCAGTGCTTCAAGCCAACAGAGCTTAAAACTGCAGTCCCTAATTTAAAAACCTAATGAAA
ATAAAAACATTCTCCTCACATATGGAGGTGACGCTCGTGTCCCAGCAGTAGTAGGACATGGCCTTAGAGGTACGTACCTGCAGAGAGCTG
GCTATTTCAAATGACTCGGGAACAAGAAGGCAGGCTGCAGTTTAAAGAAGGGGGTGGGTCCAGCGTGCAGGCACGCTTGCCATGTGCCTC
CACCCACTCCCAGCCAGGCATTAATGGCAGGAGATTGGCCAGCTCTTCTCTGTCACATTCCTATTTCTGACTTCTGCCTGGCTTTCAGTT
TCTGCCCCACCTTGGCTTTTTCCCAGCTTGAACCTAATAGAACTCCAGAGTTTGGGGGGAGGCCCAGCCCTTTGTTTTCTGCTCTTGAAG
CATATTCACACATAAAAAGTTGTATTCTCTTATACAAACTGTTTTGAGGCTCTTACCGTAGTCGAAGGTATCTTAGATCTTCCTTAGTGA
TCTCATTAAGAATATCCGAAAGTGTATAACCCTCTTCAACAATCTGAAACAAAGATCAGATCCTTAAGAGCTGAGCAGCTGTGTAACAAC
AGCATAAGAATTTCTTTGTTGTAAATTTACCTTTTCAATTGTCTTTGCATCAGCTCCTTGCAGCCGCAACCAGTCTATAAGCTCTTTATC
TGTTCTCTGCCCGTAGGGGCCTGCTGGGTTCTCTGTAATACCTGTAACGATTGGCAATTTGTTATATATTAGTCTAACCATAAAACTCTT

>82217_82217_2_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000262461_PDHA1_chrX_19367430_ENST00000379806_length(amino acids)=675AA_BP=303
MWPSRLAAARRRRGERLSHLVLRLWPPPARGVEGVLPETSAGLCSSAGGRAAMEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTA
VPSVPEDAAPASRDGGGVRDEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEP
AKGSEEAKGRFRVNFVDPAASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTM
DAVPRIDHYRHTAAQLGEKLLRPSLAELHDELEKASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRME
LKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNG
IVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVD
GMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKE

--------------------------------------------------------------
>82217_82217_3_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000262461_PDHA1_chrX_19367430_ENST00000422285_length(transcript)=4093nt_BP=945nt
ACACTCGCGCGCTCGCTCGGCTGCCGGTGGCCTCTGTGGCCGTCCAGGCTAGCGGCGGCCCGCAGGCGGCGGGGAGAAAGACTCTCTCAC
CTGGTCTTGCGGCTGTGGCCACCGCCGGCCAGGGGTGTGGAGGGCGTGCTGCCGGAGACGTCCGCCGGGCTCTGCAGTTCCGCCGGGGGT
CGGGCAGCTATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAGACGCCGTCAGCCGCTGCGCTG
GCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCCTCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCGGGGTCCGC
GATGAGGGCCCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGTTTCCAGGTGGACCTGGTTTCC
GAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGCAGACCCCC
GCGGACGGGGAAGCCAGCGGCGAGAGCGAGCCGGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGCGTGAACTTCGTGGACCCAGCT
GCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCCGGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCGGGGACACG
GTGCTGAGCGAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTATTATGATACCCACACCAACACC
TACTACCTGCGCACCTTCGGCCACAACACCATGGACGCTGTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGGGCGAGAAG
CTGCTCCGGCCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCT
ACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAAGAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGCTCAAATAC
TACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTCACTTGTGT
GATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACT
TTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGATCGATGCAC
ATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGTGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAAT
GGAAAAGATGAGGTCTGCCTGACTTTATATGGCGATGGTGCTGCTAACCAGGGCCAGATATTCGAAGCTTACAACATGGCAGCTTTGTGG
AAATTACCTTGTATTTTCATCTGTGAGAATAATCGCTATGGAATGGGAACGTCTGTTGAGAGAGCGGCAGCCAGCACTGATTACTACAAG
AGAGGCGATTTCATTCCTGGGCTGAGAGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGA
TCTGGGAAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGTTACCGTACACGA
GAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTGTGGAAGAA
CTAAAGGAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGCTGCCCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGGAAGAGCTG
GGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCGTGGTGCCAATCAGTGGATCAAGTTTAAGTCAGTCAGTTAAGGGGAGGAG
AAGGAGAGGTTATACCTTCAGGGGGCTACCAGACAGTGTTCTCAACTTGGTTAAGGAGGAAGAAAACCCAGTCAATGAAATTCAATGAAA
TTCTTGGAAACTTCCATTAAGTGTGTAGATTGAGCAGGTAGTAATTGCATGCAGTTTGTACATTAGTGCATTAAAAGATGAATTATTGAG
TGCTTAAAGATTATTTTTGACTTAAAATAGTATACTTTGAACAAATACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTT
CCCCTGCCCCCAGCCACCTTTTTGGGAGGAGACCATTATGGCGGGGCCCCTCACAGCATTCTACCAACCATAGCACCCACCCCGAGCAGC
GCTGGTGCTGCAGCCTGTTCGCGCTGACCATTTCTCTACAAGATACAATATTTATTATCAGGCAAGAGGACAGTTCCATTTTAAAATAAG
ACTTTTGTAATCATTCCAATTTTGTAATCATTTCAAAGGCCACATAACTTAGTTTTCTCTACTTACACATTCAGTATAAATATGAAGCTA
TTTTCTGTTCATATCAAACATTAACTACAAGGCACATTCGTATCAGTTTTGTGTTTCTCAAATTGAAGTACCATACCAGTTCTGAGGCAG
TGTCCCAGCTTCCATGTTTGTTAAATACCCCTTGTTTGTTTCACCATTCCAGCAAGTGCTGAAGGGTGTACTTTTTTTGAGACAGGGTCG
GGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCCACACCTCCTGGGCTCAAGCAATCCTCCCACCTCA
GCCTCCTGCATAGCTGGGACTACAAGTGAATTTCCTAATATTCCGGGAGGTCAAAACCAAGGCTCACTGTTTTCACAATACACACAGTTC
TATGTTTATAAATAACAGGTTTCAAAAGAAACTCAGGACAGTATTTAAAACAAGTTCTTAAACTATTAATTGAACAATGGCATTTTTAAA
TATGTAAACACAGCGGAATTCGTGTATACACTAACAGAAGCTTTAACAAAACATGTAGCGTGGTGGGACACTCTGCCACAGCTTAGCTGA
TTGGTATCAAGCCTTGTCTTTGGTTTCTGAGGCCTCCTGAGCCCTTCTGTACTGGGAGACCGCACTCCAGAGTCTGCAGAGGAGACCACC
CCTGGGAAACAAACACAGCTGTCTTCAGAGTCAGTGCTTCAAGCCAACAGAGCTTAAAACTGCAGTCCCTAATTTAAAAACCTAATGAAA
ATAAAAACATTCTCCTCACATATGGAGGTGACGCTCGTGTCCCAGCAGTAGTAGGACATGGCCTTAGAGGTACGTACCTGCAGAGAGCTG
GCTATTTCAAATGACTCGGGAACAAGAAGGCAGGCTGCAGTTTAAAGAAGGGGGTGGGTCCAGCGTGCAGGCACGCTTGCCATGTGCCTC
CACCCACTCCCAGCCAGGCATTAATGGCAGGAGATTGGCCAGCTCTTCTCTGTCACATTCCTATTTCTGACTTCTGCCTGGCTTTCAGTT
TCTGCCCCACCTTGGCTTTTTCCCAGCTTGAACCTAATAGAACTCCAGAGTTTGGGGGGAGGCCCAGCCCTTTGTTTTCTGCTCTTGAAG
CATATTCACACATAAAAAGTTGTATTCTCTTATACAAACTGTTTTGAGGCTCTTACCGTAGTCGAAGGTATCTTAGATCTTCCTTAGTGA
TCTCATTAAGAATATCCGAAAGTGTATAACCCTCTTCAACAATCTGAAACAAAGATCAGATCCTTAAGAGCTGAGCAGCTGTGTAACAAC
AGCATAAGAATTTCTTTGTTGTAAATTTACCTTTTCAATTGTCTTTGCATCAGCTCCTTGCAGCCGCAACCAGTCTATAAGCTCTTTATC
TGTTCTCTGCCCGTAGGGGCCTGCTGGGTTCTCTGTAATACCTGTAACGATTGGCAATTTGTTATATATTAGTCTAACCATAAAACTCTT

>82217_82217_3_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000262461_PDHA1_chrX_19367430_ENST00000422285_length(amino acids)=675AA_BP=303
MWPSRLAAARRRRGERLSHLVLRLWPPPARGVEGVLPETSAGLCSSAGGRAAMEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTA
VPSVPEDAAPASRDGGGVRDEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEP
AKGSEEAKGRFRVNFVDPAASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTM
DAVPRIDHYRHTAAQLGEKLLRPSLAELHDELEKASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRME
LKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNG
IVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVD
GMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKE

--------------------------------------------------------------
>82217_82217_4_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000262461_PDHA1_chrX_19367430_ENST00000540249_length(transcript)=4020nt_BP=945nt
ACACTCGCGCGCTCGCTCGGCTGCCGGTGGCCTCTGTGGCCGTCCAGGCTAGCGGCGGCCCGCAGGCGGCGGGGAGAAAGACTCTCTCAC
CTGGTCTTGCGGCTGTGGCCACCGCCGGCCAGGGGTGTGGAGGGCGTGCTGCCGGAGACGTCCGCCGGGCTCTGCAGTTCCGCCGGGGGT
CGGGCAGCTATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAGACGCCGTCAGCCGCTGCGCTG
GCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCCTCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCGGGGTCCGC
GATGAGGGCCCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGTTTCCAGGTGGACCTGGTTTCC
GAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGCAGACCCCC
GCGGACGGGGAAGCCAGCGGCGAGAGCGAGCCGGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGCGTGAACTTCGTGGACCCAGCT
GCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCCGGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCGGGGACACG
GTGCTGAGCGAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTATTATGATACCCACACCAACACC
TACTACCTGCGCACCTTCGGCCACAACACCATGGACGCTGTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGGGCGAGAAG
CTGCTCCGGCCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCT
ACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAAGAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGCTCAAATAC
TACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTCACTTGTGT
GATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACT
TTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGATCGATGCAC
ATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGGCCAGATATTCGAAGCTTACAACATGGCAGCTTTGTGGAAA
TTACCTTGTATTTTCATCTGTGAGAATAATCGCTATGGAATGGGAACGTCTGTTGAGAGAGCGGCAGCCAGCACTGATTACTACAAGAGA
GGCGATTTCATTCCTGGGCTGAGAGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCT
GGGAAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGTTACCGTACACGAGAA
GAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTGTGGAAGAACTA
AAGGAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGCTGCCCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGGAAGAGCTGGGC
TACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCGTGGTGCCAATCAGTGGATCAAGTTTAAGTCAGTCAGTTAAGGGGAGGAGAAG
GAGAGGTTATACCTTCAGGGGGCTACCAGACAGTGTTCTCAACTTGGTTAAGGAGGAAGAAAACCCAGTCAATGAAATTCAATGAAATTC
TTGGAAACTTCCATTAAGTGTGTAGATTGAGCAGGTAGTAATTGCATGCAGTTTGTACATTAGTGCATTAAAAGATGAATTATTGAGTGC
TTAAAGATTATTTTTGACTTAAAATAGTATACTTTGAACAAATACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTTCCC
CTGCCCCCAGCCACCTTTTTGGGAGGAGACCATTATGGCGGGGCCCCTCACAGCATTCTACCAACCATAGCACCCACCCCGAGCAGCGCT
GGTGCTGCAGCCTGTTCGCGCTGACCATTTCTCTACAAGATACAATATTTATTATCAGGCAAGAGGACAGTTCCATTTTAAAATAAGACT
TTTGTAATCATTCCAATTTTGTAATCATTTCAAAGGCCACATAACTTAGTTTTCTCTACTTACACATTCAGTATAAATATGAAGCTATTT
TCTGTTCATATCAAACATTAACTACAAGGCACATTCGTATCAGTTTTGTGTTTCTCAAATTGAAGTACCATACCAGTTCTGAGGCAGTGT
CCCAGCTTCCATGTTTGTTAAATACCCCTTGTTTGTTTCACCATTCCAGCAAGTGCTGAAGGGTGTACTTTTTTTGAGACAGGGTCGGGC
TCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCCACACCTCCTGGGCTCAAGCAATCCTCCCACCTCAGCC
TCCTGCATAGCTGGGACTACAAGTGAATTTCCTAATATTCCGGGAGGTCAAAACCAAGGCTCACTGTTTTCACAATACACACAGTTCTAT
GTTTATAAATAACAGGTTTCAAAAGAAACTCAGGACAGTATTTAAAACAAGTTCTTAAACTATTAATTGAACAATGGCATTTTTAAATAT
GTAAACACAGCGGAATTCGTGTATACACTAACAGAAGCTTTAACAAAACATGTAGCGTGGTGGGACACTCTGCCACAGCTTAGCTGATTG
GTATCAAGCCTTGTCTTTGGTTTCTGAGGCCTCCTGAGCCCTTCTGTACTGGGAGACCGCACTCCAGAGTCTGCAGAGGAGACCACCCCT
GGGAAACAAACACAGCTGTCTTCAGAGTCAGTGCTTCAAGCCAACAGAGCTTAAAACTGCAGTCCCTAATTTAAAAACCTAATGAAAATA
AAAACATTCTCCTCACATATGGAGGTGACGCTCGTGTCCCAGCAGTAGTAGGACATGGCCTTAGAGGTACGTACCTGCAGAGAGCTGGCT
ATTTCAAATGACTCGGGAACAAGAAGGCAGGCTGCAGTTTAAAGAAGGGGGTGGGTCCAGCGTGCAGGCACGCTTGCCATGTGCCTCCAC
CCACTCCCAGCCAGGCATTAATGGCAGGAGATTGGCCAGCTCTTCTCTGTCACATTCCTATTTCTGACTTCTGCCTGGCTTTCAGTTTCT
GCCCCACCTTGGCTTTTTCCCAGCTTGAACCTAATAGAACTCCAGAGTTTGGGGGGAGGCCCAGCCCTTTGTTTTCTGCTCTTGAAGCAT
ATTCACACATAAAAAGTTGTATTCTCTTATACAAACTGTTTTGAGGCTCTTACCGTAGTCGAAGGTATCTTAGATCTTCCTTAGTGATCT
CATTAAGAATATCCGAAAGTGTATAACCCTCTTCAACAATCTGAAACAAAGATCAGATCCTTAAGAGCTGAGCAGCTGTGTAACAACAGC
ATAAGAATTTCTTTGTTGTAAATTTACCTTTTCAATTGTCTTTGCATCAGCTCCTTGCAGCCGCAACCAGTCTATAAGCTCTTTATCTGT
TCTCTGCCCGTAGGGGCCTGCTGGGTTCTCTGTAATACCTGTAACGATTGGCAATTTGTTATATATTAGTCTAACCATAAAACTCTTCAA

>82217_82217_4_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000262461_PDHA1_chrX_19367430_ENST00000540249_length(amino acids)=644AA_BP=303
MWPSRLAAARRRRGERLSHLVLRLWPPPARGVEGVLPETSAGLCSSAGGRAAMEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTA
VPSVPEDAAPASRDGGGVRDEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEP
AKGSEEAKGRFRVNFVDPAASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTM
DAVPRIDHYRHTAAQLGEKLLRPSLAELHDELEKASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRME
LKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNG
IVGAQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQT
YRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFE

--------------------------------------------------------------
>82217_82217_5_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000262461_PDHA1_chrX_19367430_ENST00000545074_length(transcript)=4134nt_BP=945nt
ACACTCGCGCGCTCGCTCGGCTGCCGGTGGCCTCTGTGGCCGTCCAGGCTAGCGGCGGCCCGCAGGCGGCGGGGAGAAAGACTCTCTCAC
CTGGTCTTGCGGCTGTGGCCACCGCCGGCCAGGGGTGTGGAGGGCGTGCTGCCGGAGACGTCCGCCGGGCTCTGCAGTTCCGCCGGGGGT
CGGGCAGCTATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAGACGCCGTCAGCCGCTGCGCTG
GCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCCTCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCGGGGTCCGC
GATGAGGGCCCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGTTTCCAGGTGGACCTGGTTTCC
GAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGCAGACCCCC
GCGGACGGGGAAGCCAGCGGCGAGAGCGAGCCGGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGCGTGAACTTCGTGGACCCAGCT
GCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCCGGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCGGGGACACG
GTGCTGAGCGAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTATTATGATACCCACACCAACACC
TACTACCTGCGCACCTTCGGCCACAACACCATGGACGCTGTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGGGCGAGAAG
CTGCTCCGGCCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCT
ACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAAGAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGCTCAAATAC
TACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTCACTTGTGT
GATGGTCAGTTTCTCCTTCCTCTAACACAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCC
TACCGGGCTCACGGCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGACGAAAAGGAGGTTGTGCTAAA
GGGAAAGGAGGATCGATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGTGCCCCTGGGCGCTGGGATT
GCTCTAGCCTGTAAGTATAATGGAAAAGATGAGGTCTGCCTGACTTTATATGGCGATGGTGCTGCTAACCAGGGCCAGATATTCGAAGCT
TACAACATGGCAGCTTTGTGGAAATTACCTTGTATTTTCATCTGTGAGAATAATCGCTATGGAATGGGAACGTCTGTTGAGAGAGCGGCA
GCCAGCACTGATTACTACAAGAGAGGCGATTTCATTCCTGGGCTGAGAGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGG
TTTGCTGCTGCCTATTGTAGATCTGGGAAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCT
GGAGTCAGTTACCGTACACGAGAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGC
AATCTTGCCAGTGTGGAAGAACTAAAGGAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGCTGCCCAGTTTGCCACGGCCGATCCT
GAGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCGTGGTGCCAATCAGTGGATCAAGTTTAAG
TCAGTCAGTTAAGGGGAGGAGAAGGAGAGGTTATACCTTCAGGGGGCTACCAGACAGTGTTCTCAACTTGGTTAAGGAGGAAGAAAACCC
AGTCAATGAAATTCAATGAAATTCTTGGAAACTTCCATTAAGTGTGTAGATTGAGCAGGTAGTAATTGCATGCAGTTTGTACATTAGTGC
ATTAAAAGATGAATTATTGAGTGCTTAAAGATTATTTTTGACTTAAAATAGTATACTTTGAACAAATACTCTAATTATGAAAAGGAAGAA
CAATTCCTTGTATGCCTGTTTCCCCTGCCCCCAGCCACCTTTTTGGGAGGAGACCATTATGGCGGGGCCCCTCACAGCATTCTACCAACC
ATAGCACCCACCCCGAGCAGCGCTGGTGCTGCAGCCTGTTCGCGCTGACCATTTCTCTACAAGATACAATATTTATTATCAGGCAAGAGG
ACAGTTCCATTTTAAAATAAGACTTTTGTAATCATTCCAATTTTGTAATCATTTCAAAGGCCACATAACTTAGTTTTCTCTACTTACACA
TTCAGTATAAATATGAAGCTATTTTCTGTTCATATCAAACATTAACTACAAGGCACATTCGTATCAGTTTTGTGTTTCTCAAATTGAAGT
ACCATACCAGTTCTGAGGCAGTGTCCCAGCTTCCATGTTTGTTAAATACCCCTTGTTTGTTTCACCATTCCAGCAAGTGCTGAAGGGTGT
ACTTTTTTTGAGACAGGGTCGGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCCACACCTCCTGGGC
TCAAGCAATCCTCCCACCTCAGCCTCCTGCATAGCTGGGACTACAAGTGAATTTCCTAATATTCCGGGAGGTCAAAACCAAGGCTCACTG
TTTTCACAATACACACAGTTCTATGTTTATAAATAACAGGTTTCAAAAGAAACTCAGGACAGTATTTAAAACAAGTTCTTAAACTATTAA
TTGAACAATGGCATTTTTAAATATGTAAACACAGCGGAATTCGTGTATACACTAACAGAAGCTTTAACAAAACATGTAGCGTGGTGGGAC
ACTCTGCCACAGCTTAGCTGATTGGTATCAAGCCTTGTCTTTGGTTTCTGAGGCCTCCTGAGCCCTTCTGTACTGGGAGACCGCACTCCA
GAGTCTGCAGAGGAGACCACCCCTGGGAAACAAACACAGCTGTCTTCAGAGTCAGTGCTTCAAGCCAACAGAGCTTAAAACTGCAGTCCC
TAATTTAAAAACCTAATGAAAATAAAAACATTCTCCTCACATATGGAGGTGACGCTCGTGTCCCAGCAGTAGTAGGACATGGCCTTAGAG
GTACGTACCTGCAGAGAGCTGGCTATTTCAAATGACTCGGGAACAAGAAGGCAGGCTGCAGTTTAAAGAAGGGGGTGGGTCCAGCGTGCA
GGCACGCTTGCCATGTGCCTCCACCCACTCCCAGCCAGGCATTAATGGCAGGAGATTGGCCAGCTCTTCTCTGTCACATTCCTATTTCTG
ACTTCTGCCTGGCTTTCAGTTTCTGCCCCACCTTGGCTTTTTCCCAGCTTGAACCTAATAGAACTCCAGAGTTTGGGGGGAGGCCCAGCC
CTTTGTTTTCTGCTCTTGAAGCATATTCACACATAAAAAGTTGTATTCTCTTATACAAACTGTTTTGAGGCTCTTACCGTAGTCGAAGGT
ATCTTAGATCTTCCTTAGTGATCTCATTAAGAATATCCGAAAGTGTATAACCCTCTTCAACAATCTGAAACAAAGATCAGATCCTTAAGA
GCTGAGCAGCTGTGTAACAACAGCATAAGAATTTCTTTGTTGTAAATTTACCTTTTCAATTGTCTTTGCATCAGCTCCTTGCAGCCGCAA
CCAGTCTATAAGCTCTTTATCTGTTCTCTGCCCGTAGGGGCCTGCTGGGTTCTCTGTAATACCTGTAACGATTGGCAATTTGTTATATAT

>82217_82217_5_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000262461_PDHA1_chrX_19367430_ENST00000545074_length(amino acids)=682AA_BP=303
MWPSRLAAARRRRGERLSHLVLRLWPPPARGVEGVLPETSAGLCSSAGGRAAMEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTA
VPSVPEDAAPASRDGGGVRDEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEP
AKGSEEAKGRFRVNFVDPAASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTM
DAVPRIDHYRHTAAQLGEKLLRPSLAELHDELEKASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRME
LKADQLYKQKIIRGFCHLCDGQFLLPLTQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAK
NFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDF
IPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEI

--------------------------------------------------------------
>82217_82217_6_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000343225_PDHA1_chrX_19367430_ENST00000379805_length(transcript)=1470nt_BP=863nt
TCTCTCACCTGGTCTTGCGGCTGTGGCCACCGCCGGCCAGGGGTGTGGAGGGCGTGCTGCCGGAGACGTCCGCCGGGCTCTGCAGTTCCG
CCGGGGGTCGGGCAGCTATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAGACGCCGTCAGCCG
CTGCGCTGGCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCCTCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCG
GGGTCCGCGATGAGGGCCCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGTTTCCAGGTGGACC
TGGTTTCCGAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGC
AGACCCCCGCGGACGGGGAAGCCAGCGGCGAGAGCGAGCCGGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGCGTGAACTTCGTGG
ACCCAGCTGCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCCGGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCG
GGGACACGGTGCTGAGCGAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTATTATGATACCCACA
CCAACACCTACTACCTGCGCACCTTCGGCCACAACACCATGGACGCTGTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGG
GCGAGAAGCTGCTCCGGCCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAA
ATGATGCTACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAAGAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGC
TCAAATACTACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTC
ACTTGTGTGATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACG
GCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGAT
CGATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGTAGTCAAGGACGAGGATTGTGTGCTGCTTTAGA
TTTGGCCCTGGACTTTGTCTTCAAAAACTTTCACAGCCCCAGACAACTTTTCCTGAAGTAGTACAGCCATGTGCTGCACAGTGACGCTTT

>82217_82217_6_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000343225_PDHA1_chrX_19367430_ENST00000379805_length(amino acids)=446AA_BP=284
MVLRLWPPPARGVEGVLPETSAGLCSSAGGRAAMEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVR
DEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEPAKGSEEAKGRFRVNFVDPA
ASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEK
LLRPSLAELHDELEKASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLC

--------------------------------------------------------------
>82217_82217_7_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000343225_PDHA1_chrX_19367430_ENST00000379806_length(transcript)=4031nt_BP=863nt
TCTCTCACCTGGTCTTGCGGCTGTGGCCACCGCCGGCCAGGGGTGTGGAGGGCGTGCTGCCGGAGACGTCCGCCGGGCTCTGCAGTTCCG
CCGGGGGTCGGGCAGCTATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAGACGCCGTCAGCCG
CTGCGCTGGCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCCTCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCG
GGGTCCGCGATGAGGGCCCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGTTTCCAGGTGGACC
TGGTTTCCGAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGC
AGACCCCCGCGGACGGGGAAGCCAGCGGCGAGAGCGAGCCGGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGCGTGAACTTCGTGG
ACCCAGCTGCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCCGGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCG
GGGACACGGTGCTGAGCGAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTATTATGATACCCACA
CCAACACCTACTACCTGCGCACCTTCGGCCACAACACCATGGACGCTGTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGG
GCGAGAAGCTGCTCCGGCCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAA
ATGATGCTACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAAGAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGC
TCAAATACTACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTC
ACTTGTGTGATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACG
GCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGAT
CGATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGTGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTA
AGTATAATGGAAAAGATGAGGTCTGCCTGACTTTATATGGCGATGGTGCTGCTAACCAGGGCCAGATATTCGAAGCTTACAACATGGCAG
CTTTGTGGAAATTACCTTGTATTTTCATCTGTGAGAATAATCGCTATGGAATGGGAACGTCTGTTGAGAGAGCGGCAGCCAGCACTGATT
ACTACAAGAGAGGCGATTTCATTCCTGGGCTGAGAGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCT
ATTGTAGATCTGGGAAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGTTACC
GTACACGAGAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTG
TGGAAGAACTAAAGGAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGCTGCCCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGG
AAGAGCTGGGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCGTGGTGCCAATCAGTGGATCAAGTTTAAGTCAGTCAGTTAAG
GGGAGGAGAAGGAGAGGTTATACCTTCAGGGGGCTACCAGACAGTGTTCTCAACTTGGTTAAGGAGGAAGAAAACCCAGTCAATGAAATT
CAATGAAATTCTTGGAAACTTCCATTAAGTGTGTAGATTGAGCAGGTAGTAATTGCATGCAGTTTGTACATTAGTGCATTAAAAGATGAA
TTATTGAGTGCTTAAAGATTATTTTTGACTTAAAATAGTATACTTTGAACAAATACTCTAATTATGAAAAGGAAGAACAATTCCTTGTAT
GCCTGTTTCCCCTGCCCCCAGCCACCTTTTTGGGAGGAGACCATTATGGCGGGGCCCCTCACAGCATTCTACCAACCATAGCACCCACCC
CGAGCAGCGCTGGTGCTGCAGCCTGTTCGCGCTGACCATTTCTCTACAAGATACAATATTTATTATCAGGCAAGAGGACAGTTCCATTTT
AAAATAAGACTTTTGTAATCATTCCAATTTTGTAATCATTTCAAAGGCCACATAACTTAGTTTTCTCTACTTACACATTCAGTATAAATA
TGAAGCTATTTTCTGTTCATATCAAACATTAACTACAAGGCACATTCGTATCAGTTTTGTGTTTCTCAAATTGAAGTACCATACCAGTTC
TGAGGCAGTGTCCCAGCTTCCATGTTTGTTAAATACCCCTTGTTTGTTTCACCATTCCAGCAAGTGCTGAAGGGTGTACTTTTTTTGAGA
CAGGGTCGGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCCACACCTCCTGGGCTCAAGCAATCCTC
CCACCTCAGCCTCCTGCATAGCTGGGACTACAAGTGAATTTCCTAATATTCCGGGAGGTCAAAACCAAGGCTCACTGTTTTCACAATACA
CACAGTTCTATGTTTATAAATAACAGGTTTCAAAAGAAACTCAGGACAGTATTTAAAACAAGTTCTTAAACTATTAATTGAACAATGGCA
TTTTTAAATATGTAAACACAGCGGAATTCGTGTATACACTAACAGAAGCTTTAACAAAACATGTAGCGTGGTGGGACACTCTGCCACAGC
TTAGCTGATTGGTATCAAGCCTTGTCTTTGGTTTCTGAGGCCTCCTGAGCCCTTCTGTACTGGGAGACCGCACTCCAGAGTCTGCAGAGG
AGACCACCCCTGGGAAACAAACACAGCTGTCTTCAGAGTCAGTGCTTCAAGCCAACAGAGCTTAAAACTGCAGTCCCTAATTTAAAAACC
TAATGAAAATAAAAACATTCTCCTCACATATGGAGGTGACGCTCGTGTCCCAGCAGTAGTAGGACATGGCCTTAGAGGTACGTACCTGCA
GAGAGCTGGCTATTTCAAATGACTCGGGAACAAGAAGGCAGGCTGCAGTTTAAAGAAGGGGGTGGGTCCAGCGTGCAGGCACGCTTGCCA
TGTGCCTCCACCCACTCCCAGCCAGGCATTAATGGCAGGAGATTGGCCAGCTCTTCTCTGTCACATTCCTATTTCTGACTTCTGCCTGGC
TTTCAGTTTCTGCCCCACCTTGGCTTTTTCCCAGCTTGAACCTAATAGAACTCCAGAGTTTGGGGGGAGGCCCAGCCCTTTGTTTTCTGC
TCTTGAAGCATATTCACACATAAAAAGTTGTATTCTCTTATACAAACTGTTTTGAGGCTCTTACCGTAGTCGAAGGTATCTTAGATCTTC
CTTAGTGATCTCATTAAGAATATCCGAAAGTGTATAACCCTCTTCAACAATCTGAAACAAAGATCAGATCCTTAAGAGCTGAGCAGCTGT
GTAACAACAGCATAAGAATTTCTTTGTTGTAAATTTACCTTTTCAATTGTCTTTGCATCAGCTCCTTGCAGCCGCAACCAGTCTATAAGC
TCTTTATCTGTTCTCTGCCCGTAGGGGCCTGCTGGGTTCTCTGTAATACCTGTAACGATTGGCAATTTGTTATATATTAGTCTAACCATA

>82217_82217_7_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000343225_PDHA1_chrX_19367430_ENST00000379806_length(amino acids)=656AA_BP=284
MVLRLWPPPARGVEGVLPETSAGLCSSAGGRAAMEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVR
DEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEPAKGSEEAKGRFRVNFVDPA
ASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEK
LLRPSLAELHDELEKASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLC
DGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYN
GKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCR
SGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEEL

--------------------------------------------------------------
>82217_82217_8_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000343225_PDHA1_chrX_19367430_ENST00000422285_length(transcript)=4011nt_BP=863nt
TCTCTCACCTGGTCTTGCGGCTGTGGCCACCGCCGGCCAGGGGTGTGGAGGGCGTGCTGCCGGAGACGTCCGCCGGGCTCTGCAGTTCCG
CCGGGGGTCGGGCAGCTATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAGACGCCGTCAGCCG
CTGCGCTGGCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCCTCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCG
GGGTCCGCGATGAGGGCCCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGTTTCCAGGTGGACC
TGGTTTCCGAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGC
AGACCCCCGCGGACGGGGAAGCCAGCGGCGAGAGCGAGCCGGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGCGTGAACTTCGTGG
ACCCAGCTGCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCCGGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCG
GGGACACGGTGCTGAGCGAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTATTATGATACCCACA
CCAACACCTACTACCTGCGCACCTTCGGCCACAACACCATGGACGCTGTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGG
GCGAGAAGCTGCTCCGGCCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAA
ATGATGCTACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAAGAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGC
TCAAATACTACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTC
ACTTGTGTGATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACG
GCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGAT
CGATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGTGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTA
AGTATAATGGAAAAGATGAGGTCTGCCTGACTTTATATGGCGATGGTGCTGCTAACCAGGGCCAGATATTCGAAGCTTACAACATGGCAG
CTTTGTGGAAATTACCTTGTATTTTCATCTGTGAGAATAATCGCTATGGAATGGGAACGTCTGTTGAGAGAGCGGCAGCCAGCACTGATT
ACTACAAGAGAGGCGATTTCATTCCTGGGCTGAGAGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCT
ATTGTAGATCTGGGAAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGTTACC
GTACACGAGAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTG
TGGAAGAACTAAAGGAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGCTGCCCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGG
AAGAGCTGGGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCGTGGTGCCAATCAGTGGATCAAGTTTAAGTCAGTCAGTTAAG
GGGAGGAGAAGGAGAGGTTATACCTTCAGGGGGCTACCAGACAGTGTTCTCAACTTGGTTAAGGAGGAAGAAAACCCAGTCAATGAAATT
CAATGAAATTCTTGGAAACTTCCATTAAGTGTGTAGATTGAGCAGGTAGTAATTGCATGCAGTTTGTACATTAGTGCATTAAAAGATGAA
TTATTGAGTGCTTAAAGATTATTTTTGACTTAAAATAGTATACTTTGAACAAATACTCTAATTATGAAAAGGAAGAACAATTCCTTGTAT
GCCTGTTTCCCCTGCCCCCAGCCACCTTTTTGGGAGGAGACCATTATGGCGGGGCCCCTCACAGCATTCTACCAACCATAGCACCCACCC
CGAGCAGCGCTGGTGCTGCAGCCTGTTCGCGCTGACCATTTCTCTACAAGATACAATATTTATTATCAGGCAAGAGGACAGTTCCATTTT
AAAATAAGACTTTTGTAATCATTCCAATTTTGTAATCATTTCAAAGGCCACATAACTTAGTTTTCTCTACTTACACATTCAGTATAAATA
TGAAGCTATTTTCTGTTCATATCAAACATTAACTACAAGGCACATTCGTATCAGTTTTGTGTTTCTCAAATTGAAGTACCATACCAGTTC
TGAGGCAGTGTCCCAGCTTCCATGTTTGTTAAATACCCCTTGTTTGTTTCACCATTCCAGCAAGTGCTGAAGGGTGTACTTTTTTTGAGA
CAGGGTCGGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCCACACCTCCTGGGCTCAAGCAATCCTC
CCACCTCAGCCTCCTGCATAGCTGGGACTACAAGTGAATTTCCTAATATTCCGGGAGGTCAAAACCAAGGCTCACTGTTTTCACAATACA
CACAGTTCTATGTTTATAAATAACAGGTTTCAAAAGAAACTCAGGACAGTATTTAAAACAAGTTCTTAAACTATTAATTGAACAATGGCA
TTTTTAAATATGTAAACACAGCGGAATTCGTGTATACACTAACAGAAGCTTTAACAAAACATGTAGCGTGGTGGGACACTCTGCCACAGC
TTAGCTGATTGGTATCAAGCCTTGTCTTTGGTTTCTGAGGCCTCCTGAGCCCTTCTGTACTGGGAGACCGCACTCCAGAGTCTGCAGAGG
AGACCACCCCTGGGAAACAAACACAGCTGTCTTCAGAGTCAGTGCTTCAAGCCAACAGAGCTTAAAACTGCAGTCCCTAATTTAAAAACC
TAATGAAAATAAAAACATTCTCCTCACATATGGAGGTGACGCTCGTGTCCCAGCAGTAGTAGGACATGGCCTTAGAGGTACGTACCTGCA
GAGAGCTGGCTATTTCAAATGACTCGGGAACAAGAAGGCAGGCTGCAGTTTAAAGAAGGGGGTGGGTCCAGCGTGCAGGCACGCTTGCCA
TGTGCCTCCACCCACTCCCAGCCAGGCATTAATGGCAGGAGATTGGCCAGCTCTTCTCTGTCACATTCCTATTTCTGACTTCTGCCTGGC
TTTCAGTTTCTGCCCCACCTTGGCTTTTTCCCAGCTTGAACCTAATAGAACTCCAGAGTTTGGGGGGAGGCCCAGCCCTTTGTTTTCTGC
TCTTGAAGCATATTCACACATAAAAAGTTGTATTCTCTTATACAAACTGTTTTGAGGCTCTTACCGTAGTCGAAGGTATCTTAGATCTTC
CTTAGTGATCTCATTAAGAATATCCGAAAGTGTATAACCCTCTTCAACAATCTGAAACAAAGATCAGATCCTTAAGAGCTGAGCAGCTGT
GTAACAACAGCATAAGAATTTCTTTGTTGTAAATTTACCTTTTCAATTGTCTTTGCATCAGCTCCTTGCAGCCGCAACCAGTCTATAAGC
TCTTTATCTGTTCTCTGCCCGTAGGGGCCTGCTGGGTTCTCTGTAATACCTGTAACGATTGGCAATTTGTTATATATTAGTCTAACCATA

>82217_82217_8_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000343225_PDHA1_chrX_19367430_ENST00000422285_length(amino acids)=656AA_BP=284
MVLRLWPPPARGVEGVLPETSAGLCSSAGGRAAMEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVR
DEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEPAKGSEEAKGRFRVNFVDPA
ASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEK
LLRPSLAELHDELEKASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLC
DGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYN
GKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCR
SGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEEL

--------------------------------------------------------------
>82217_82217_9_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000343225_PDHA1_chrX_19367430_ENST00000540249_length(transcript)=3938nt_BP=863nt
TCTCTCACCTGGTCTTGCGGCTGTGGCCACCGCCGGCCAGGGGTGTGGAGGGCGTGCTGCCGGAGACGTCCGCCGGGCTCTGCAGTTCCG
CCGGGGGTCGGGCAGCTATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAGACGCCGTCAGCCG
CTGCGCTGGCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCCTCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCG
GGGTCCGCGATGAGGGCCCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGTTTCCAGGTGGACC
TGGTTTCCGAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGC
AGACCCCCGCGGACGGGGAAGCCAGCGGCGAGAGCGAGCCGGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGCGTGAACTTCGTGG
ACCCAGCTGCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCCGGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCG
GGGACACGGTGCTGAGCGAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTATTATGATACCCACA
CCAACACCTACTACCTGCGCACCTTCGGCCACAACACCATGGACGCTGTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGG
GCGAGAAGCTGCTCCGGCCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAA
ATGATGCTACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAAGAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGC
TCAAATACTACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTC
ACTTGTGTGATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACG
GCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGAT
CGATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGGCCAGATATTCGAAGCTTACAACATGGCAGCTT
TGTGGAAATTACCTTGTATTTTCATCTGTGAGAATAATCGCTATGGAATGGGAACGTCTGTTGAGAGAGCGGCAGCCAGCACTGATTACT
ACAAGAGAGGCGATTTCATTCCTGGGCTGAGAGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATT
GTAGATCTGGGAAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGTTACCGTA
CACGAGAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTGTGG
AAGAACTAAAGGAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGCTGCCCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGGAAG
AGCTGGGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCGTGGTGCCAATCAGTGGATCAAGTTTAAGTCAGTCAGTTAAGGGG
AGGAGAAGGAGAGGTTATACCTTCAGGGGGCTACCAGACAGTGTTCTCAACTTGGTTAAGGAGGAAGAAAACCCAGTCAATGAAATTCAA
TGAAATTCTTGGAAACTTCCATTAAGTGTGTAGATTGAGCAGGTAGTAATTGCATGCAGTTTGTACATTAGTGCATTAAAAGATGAATTA
TTGAGTGCTTAAAGATTATTTTTGACTTAAAATAGTATACTTTGAACAAATACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCC
TGTTTCCCCTGCCCCCAGCCACCTTTTTGGGAGGAGACCATTATGGCGGGGCCCCTCACAGCATTCTACCAACCATAGCACCCACCCCGA
GCAGCGCTGGTGCTGCAGCCTGTTCGCGCTGACCATTTCTCTACAAGATACAATATTTATTATCAGGCAAGAGGACAGTTCCATTTTAAA
ATAAGACTTTTGTAATCATTCCAATTTTGTAATCATTTCAAAGGCCACATAACTTAGTTTTCTCTACTTACACATTCAGTATAAATATGA
AGCTATTTTCTGTTCATATCAAACATTAACTACAAGGCACATTCGTATCAGTTTTGTGTTTCTCAAATTGAAGTACCATACCAGTTCTGA
GGCAGTGTCCCAGCTTCCATGTTTGTTAAATACCCCTTGTTTGTTTCACCATTCCAGCAAGTGCTGAAGGGTGTACTTTTTTTGAGACAG
GGTCGGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCCACACCTCCTGGGCTCAAGCAATCCTCCCA
CCTCAGCCTCCTGCATAGCTGGGACTACAAGTGAATTTCCTAATATTCCGGGAGGTCAAAACCAAGGCTCACTGTTTTCACAATACACAC
AGTTCTATGTTTATAAATAACAGGTTTCAAAAGAAACTCAGGACAGTATTTAAAACAAGTTCTTAAACTATTAATTGAACAATGGCATTT
TTAAATATGTAAACACAGCGGAATTCGTGTATACACTAACAGAAGCTTTAACAAAACATGTAGCGTGGTGGGACACTCTGCCACAGCTTA
GCTGATTGGTATCAAGCCTTGTCTTTGGTTTCTGAGGCCTCCTGAGCCCTTCTGTACTGGGAGACCGCACTCCAGAGTCTGCAGAGGAGA
CCACCCCTGGGAAACAAACACAGCTGTCTTCAGAGTCAGTGCTTCAAGCCAACAGAGCTTAAAACTGCAGTCCCTAATTTAAAAACCTAA
TGAAAATAAAAACATTCTCCTCACATATGGAGGTGACGCTCGTGTCCCAGCAGTAGTAGGACATGGCCTTAGAGGTACGTACCTGCAGAG
AGCTGGCTATTTCAAATGACTCGGGAACAAGAAGGCAGGCTGCAGTTTAAAGAAGGGGGTGGGTCCAGCGTGCAGGCACGCTTGCCATGT
GCCTCCACCCACTCCCAGCCAGGCATTAATGGCAGGAGATTGGCCAGCTCTTCTCTGTCACATTCCTATTTCTGACTTCTGCCTGGCTTT
CAGTTTCTGCCCCACCTTGGCTTTTTCCCAGCTTGAACCTAATAGAACTCCAGAGTTTGGGGGGAGGCCCAGCCCTTTGTTTTCTGCTCT
TGAAGCATATTCACACATAAAAAGTTGTATTCTCTTATACAAACTGTTTTGAGGCTCTTACCGTAGTCGAAGGTATCTTAGATCTTCCTT
AGTGATCTCATTAAGAATATCCGAAAGTGTATAACCCTCTTCAACAATCTGAAACAAAGATCAGATCCTTAAGAGCTGAGCAGCTGTGTA
ACAACAGCATAAGAATTTCTTTGTTGTAAATTTACCTTTTCAATTGTCTTTGCATCAGCTCCTTGCAGCCGCAACCAGTCTATAAGCTCT
TTATCTGTTCTCTGCCCGTAGGGGCCTGCTGGGTTCTCTGTAATACCTGTAACGATTGGCAATTTGTTATATATTAGTCTAACCATAAAA

>82217_82217_9_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000343225_PDHA1_chrX_19367430_ENST00000540249_length(amino acids)=625AA_BP=284
MVLRLWPPPARGVEGVLPETSAGLCSSAGGRAAMEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVR
DEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEPAKGSEEAKGRFRVNFVDPA
ASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEK
LLRPSLAELHDELEKASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLC
DGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQGQIFEAYNMAALWK
LPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTRE

--------------------------------------------------------------
>82217_82217_10_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000343225_PDHA1_chrX_19367430_ENST00000545074_length(transcript)=4052nt_BP=863nt
TCTCTCACCTGGTCTTGCGGCTGTGGCCACCGCCGGCCAGGGGTGTGGAGGGCGTGCTGCCGGAGACGTCCGCCGGGCTCTGCAGTTCCG
CCGGGGGTCGGGCAGCTATGGAGCCGCGGCCCACGGCGCCCTCCTCCGGCGCCCCGGGACTGGCCGGGGTCGGGGAGACGCCGTCAGCCG
CTGCGCTGGCCGCAGCCAGGGTGGAACTGCCCGGCACGGCTGTGCCCTCGGTGCCGGAGGATGCTGCGCCCGCGAGCCGGGACGGCGGCG
GGGTCCGCGATGAGGGCCCCGCGGCGGCCGGGGACGGGCTGGGCAGACCCTTGGGGCCCACCCCGAGCCAGAGCCGTTTCCAGGTGGACC
TGGTTTCCGAGAACGCCGGGCGGGCCGCTGCTGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCTGGTGCTGGGGCGGGGGCCAAGC
AGACCCCCGCGGACGGGGAAGCCAGCGGCGAGAGCGAGCCGGCTAAAGGCAGCGAGGAAGCCAAGGGCCGCTTCCGCGTGAACTTCGTGG
ACCCAGCTGCCTCCTCGTCGGCTGAAGACAGCCTGTCAGATGCTGCCGGGGTCGGAGTCGACGGGCCCAACGTGAGCTTCCAGAACGGCG
GGGACACGGTGCTGAGCGAGGGCAGCAGCCTGCACTCCGGCGGCGGCGGCGGCAGTGGGCACCACCAGCACTACTATTATGATACCCACA
CCAACACCTACTACCTGCGCACCTTCGGCCACAACACCATGGACGCTGTGCCCAGGATCGATCACTACCGGCACACAGCCGCGCAGCTGG
GCGAGAAGCTGCTCCGGCCTAGCCTGGCGGAGCTCCACGACGAGCTGGAAAAGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAA
ATGATGCTACATTTGAAATTAAGAAATGTGACCTTCACCGGCTGGAAGAAGGCCCTCCTGTCACAACAGTGCTCACCAGGGAGGATGGGC
TCAAATACTACAGGATGATGCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTC
ACTTGTGTGATGGTCAGTTTCTCCTTCCTCTAACACAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCA
TCACAGCCTACCGGGCTCACGGCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGACGAAAAGGAGGTT
GTGCTAAAGGGAAAGGAGGATCGATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGTGCCCCTGGGCG
CTGGGATTGCTCTAGCCTGTAAGTATAATGGAAAAGATGAGGTCTGCCTGACTTTATATGGCGATGGTGCTGCTAACCAGGGCCAGATAT
TCGAAGCTTACAACATGGCAGCTTTGTGGAAATTACCTTGTATTTTCATCTGTGAGAATAATCGCTATGGAATGGGAACGTCTGTTGAGA
GAGCGGCAGCCAGCACTGATTACTACAAGAGAGGCGATTTCATTCCTGGGCTGAGAGTGGATGGAATGGATATCCTGTGCGTCCGAGAGG
CAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGA
GTGACCCTGGAGTCAGTTACCGTACACGAGAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGG
TGAACAGCAATCTTGCCAGTGTGGAAGAACTAAAGGAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGCTGCCCAGTTTGCCACGG
CCGATCCTGAGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCGTGGTGCCAATCAGTGGATCA
AGTTTAAGTCAGTCAGTTAAGGGGAGGAGAAGGAGAGGTTATACCTTCAGGGGGCTACCAGACAGTGTTCTCAACTTGGTTAAGGAGGAA
GAAAACCCAGTCAATGAAATTCAATGAAATTCTTGGAAACTTCCATTAAGTGTGTAGATTGAGCAGGTAGTAATTGCATGCAGTTTGTAC
ATTAGTGCATTAAAAGATGAATTATTGAGTGCTTAAAGATTATTTTTGACTTAAAATAGTATACTTTGAACAAATACTCTAATTATGAAA
AGGAAGAACAATTCCTTGTATGCCTGTTTCCCCTGCCCCCAGCCACCTTTTTGGGAGGAGACCATTATGGCGGGGCCCCTCACAGCATTC
TACCAACCATAGCACCCACCCCGAGCAGCGCTGGTGCTGCAGCCTGTTCGCGCTGACCATTTCTCTACAAGATACAATATTTATTATCAG
GCAAGAGGACAGTTCCATTTTAAAATAAGACTTTTGTAATCATTCCAATTTTGTAATCATTTCAAAGGCCACATAACTTAGTTTTCTCTA
CTTACACATTCAGTATAAATATGAAGCTATTTTCTGTTCATATCAAACATTAACTACAAGGCACATTCGTATCAGTTTTGTGTTTCTCAA
ATTGAAGTACCATACCAGTTCTGAGGCAGTGTCCCAGCTTCCATGTTTGTTAAATACCCCTTGTTTGTTTCACCATTCCAGCAAGTGCTG
AAGGGTGTACTTTTTTTGAGACAGGGTCGGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGCAGCCTCCACACC
TCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGCATAGCTGGGACTACAAGTGAATTTCCTAATATTCCGGGAGGTCAAAACCAAG
GCTCACTGTTTTCACAATACACACAGTTCTATGTTTATAAATAACAGGTTTCAAAAGAAACTCAGGACAGTATTTAAAACAAGTTCTTAA
ACTATTAATTGAACAATGGCATTTTTAAATATGTAAACACAGCGGAATTCGTGTATACACTAACAGAAGCTTTAACAAAACATGTAGCGT
GGTGGGACACTCTGCCACAGCTTAGCTGATTGGTATCAAGCCTTGTCTTTGGTTTCTGAGGCCTCCTGAGCCCTTCTGTACTGGGAGACC
GCACTCCAGAGTCTGCAGAGGAGACCACCCCTGGGAAACAAACACAGCTGTCTTCAGAGTCAGTGCTTCAAGCCAACAGAGCTTAAAACT
GCAGTCCCTAATTTAAAAACCTAATGAAAATAAAAACATTCTCCTCACATATGGAGGTGACGCTCGTGTCCCAGCAGTAGTAGGACATGG
CCTTAGAGGTACGTACCTGCAGAGAGCTGGCTATTTCAAATGACTCGGGAACAAGAAGGCAGGCTGCAGTTTAAAGAAGGGGGTGGGTCC
AGCGTGCAGGCACGCTTGCCATGTGCCTCCACCCACTCCCAGCCAGGCATTAATGGCAGGAGATTGGCCAGCTCTTCTCTGTCACATTCC
TATTTCTGACTTCTGCCTGGCTTTCAGTTTCTGCCCCACCTTGGCTTTTTCCCAGCTTGAACCTAATAGAACTCCAGAGTTTGGGGGGAG
GCCCAGCCCTTTGTTTTCTGCTCTTGAAGCATATTCACACATAAAAAGTTGTATTCTCTTATACAAACTGTTTTGAGGCTCTTACCGTAG
TCGAAGGTATCTTAGATCTTCCTTAGTGATCTCATTAAGAATATCCGAAAGTGTATAACCCTCTTCAACAATCTGAAACAAAGATCAGAT
CCTTAAGAGCTGAGCAGCTGTGTAACAACAGCATAAGAATTTCTTTGTTGTAAATTTACCTTTTCAATTGTCTTTGCATCAGCTCCTTGC
AGCCGCAACCAGTCTATAAGCTCTTTATCTGTTCTCTGCCCGTAGGGGCCTGCTGGGTTCTCTGTAATACCTGTAACGATTGGCAATTTG
TTATATATTAGTCTAACCATAAAACTCTTCAAAAGTAACCAGTTGGATTAATAAATGATTCCAGAATGTAAATGTGATGTGAAAAAGAGA

>82217_82217_10_SLC12A2-PDHA1_SLC12A2_chr5_127420402_ENST00000343225_PDHA1_chrX_19367430_ENST00000545074_length(amino acids)=663AA_BP=284
MVLRLWPPPARGVEGVLPETSAGLCSSAGGRAAMEPRPTAPSSGAPGLAGVGETPSAAALAAARVELPGTAVPSVPEDAAPASRDGGGVR
DEGPAAAGDGLGRPLGPTPSQSRFQVDLVSENAGRAAAAAAAAAAAAAAAGAGAGAKQTPADGEASGESEPAKGSEEAKGRFRVNFVDPA
ASSSAEDSLSDAAGVGVDGPNVSFQNGGDTVLSEGSSLHSGGGGGSGHHQHYYYDTHTNTYYLRTFGHNTMDAVPRIDHYRHTAAQLGEK
LLRPSLAELHDELEKASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLC
DGQFLLPLTQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGI
ALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATR
FAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADP

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

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Fusion Gene PPI Analysis for SLC12A2-PDHA1


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 SLC12A2-PDHA1


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 SLC12A2-PDHA1


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