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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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Fusion gene:NDUFS2-ATP1A3 (FusionGDB2 ID:57882)

Fusion Gene Summary for NDUFS2-ATP1A3

check button Fusion gene summary
Fusion gene informationFusion gene name: NDUFS2-ATP1A3
Fusion gene ID: 57882
HgeneTgene
Gene symbol

NDUFS2

ATP1A3

Gene ID

4720

478

Gene nameNADH:ubiquinone oxidoreductase core subunit S2ATPase Na+/K+ transporting subunit alpha 3
SynonymsCI-49|MC1DN6AHC2|ATP1A1|CAPOS|DYT12|RDP
Cytomap

1q23.3

19q13.2

Type of geneprotein-codingprotein-coding
DescriptionNADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrialCI-49kDNADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)NADH-ubiquinone oxidoreductase 49 kDa subunitNADH-ubiquinone oxidoreductase NDUFS2 subunitcompsodium/potassium-transporting ATPase subunit alpha-3ATPase, Na+/K+ transporting, alpha 3 polypeptideNa(+)/K(+) ATPase alpha(III) subunitNa(+)/K(+) ATPase alpha-3 subunitNa+, K+ activated adenosine triphosphatase alpha subunitNa+/K+ ATPase 3sodium pu
Modification date2020031320200313
UniProtAcc.

P13637

Ensembl transtripts involved in fusion geneENST00000367993, ENST00000392179, 
ENST00000476409, ENST00000465923, 
ENST00000302102, ENST00000545399, 
ENST00000543770, ENST00000602133, 
ENST00000468774, 
Fusion gene scores* DoF score6 X 6 X 4=1444 X 4 X 3=48
# samples 64
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NDUFS2 [Title/Abstract] AND ATP1A3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNDUFS2(161182190)-ATP1A3(42482933), # samples:1
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
HgeneNDUFS2

GO:0006979

response to oxidative stress

12857734

TgeneATP1A3

GO:0006883

cellular sodium ion homeostasis

10636900

TgeneATP1A3

GO:0030007

cellular potassium ion homeostasis

10636900

TgeneATP1A3

GO:0036376

sodium ion export across plasma membrane

10636900

TgeneATP1A3

GO:1990573

potassium ion import across plasma membrane

10636900


check buttonFusion gene breakpoints across NDUFS2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ATP1A3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChiTaRS5.0N/ABQ339562NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-


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Fusion Gene ORF analysis for NDUFS2-ATP1A3

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000367993ENST00000302102NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000367993ENST00000545399NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000367993ENST00000543770NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000367993ENST00000602133NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
5CDS-intronENST00000367993ENST00000468774NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000392179ENST00000302102NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000392179ENST00000545399NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000392179ENST00000543770NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
In-frameENST00000392179ENST00000602133NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
5CDS-intronENST00000392179ENST00000468774NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
intron-3CDSENST00000476409ENST00000302102NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
intron-3CDSENST00000476409ENST00000545399NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
intron-3CDSENST00000476409ENST00000543770NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
intron-3CDSENST00000476409ENST00000602133NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
intron-intronENST00000476409ENST00000468774NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
3UTR-3CDSENST00000465923ENST00000302102NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
3UTR-3CDSENST00000465923ENST00000545399NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
3UTR-3CDSENST00000465923ENST00000543770NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
3UTR-3CDSENST00000465923ENST00000602133NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-
3UTR-intronENST00000465923ENST00000468774NDUFS2chr1

161182190

+ATP1A3chr19

42482933

-

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)
ENST00000367993NDUFS2chr1161182190+ENST00000302102ATP1A3chr1942482933-345715144481473341
ENST00000367993NDUFS2chr1161182190+ENST00000545399ATP1A3chr1942482933-345515144481473341
ENST00000367993NDUFS2chr1161182190+ENST00000543770ATP1A3chr1942482933-341815144481473341
ENST00000367993NDUFS2chr1161182190+ENST00000602133ATP1A3chr1942482933-325715144481473341
ENST00000392179NDUFS2chr1161182190+ENST00000302102ATP1A3chr1942482933-324813052391264341
ENST00000392179NDUFS2chr1161182190+ENST00000545399ATP1A3chr1942482933-324613052391264341
ENST00000392179NDUFS2chr1161182190+ENST00000543770ATP1A3chr1942482933-320913052391264341
ENST00000392179NDUFS2chr1161182190+ENST00000602133ATP1A3chr1942482933-304813052391264341

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
ENST00000367993ENST00000302102NDUFS2chr1161182190+ATP1A3chr1942482933-0.001720540.99827945
ENST00000367993ENST00000545399NDUFS2chr1161182190+ATP1A3chr1942482933-0.0017253370.9982747
ENST00000367993ENST00000543770NDUFS2chr1161182190+ATP1A3chr1942482933-0.0017896530.9982103
ENST00000367993ENST00000602133NDUFS2chr1161182190+ATP1A3chr1942482933-0.0016466380.99835336
ENST00000392179ENST00000302102NDUFS2chr1161182190+ATP1A3chr1942482933-0.0017219820.998278
ENST00000392179ENST00000545399NDUFS2chr1161182190+ATP1A3chr1942482933-0.0017226060.9982774
ENST00000392179ENST00000543770NDUFS2chr1161182190+ATP1A3chr1942482933-0.0017923210.9982077
ENST00000392179ENST00000602133NDUFS2chr1161182190+ATP1A3chr1942482933-0.0016018050.99839824

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Fusion Genomic Features for NDUFS2-ATP1A3


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)

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.

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.

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Fusion Protein Features for NDUFS2-ATP1A3


check button Go to

FGviewer for the breakpoints of chr1:161182190-chr19:42482933

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.ATP1A3

P13637

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.

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
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023143_27801014.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST000003021020231_7701014.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023299_31001014.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023329_76201014.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023783_79201014.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023814_83301014.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023857_90801014.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023929_94101014.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023961_97501014.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023997_101301014.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST0000030210202399_12101014.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023143_27801025.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST000005437700231_7701025.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023299_31001025.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023329_76201025.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023783_79201025.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023814_83301025.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023857_90801025.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023929_94101025.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023961_97501025.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023997_101301025.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST0000054377002399_12101025.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023143_27801027.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST000005453990231_7701027.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023299_31001027.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023329_76201027.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023783_79201027.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023814_83301027.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023857_90801027.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023929_94101027.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023961_97501027.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023997_101301027.0Topological domainCytoplasmic
TgeneATP1A3chr1:161182190chr19:42482933ENST0000054539902399_12101027.0Topological domainExtracellular
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023122_14201014.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023279_29801014.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023311_32801014.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023763_78201014.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST0000030210202378_9801014.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023793_81301014.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023834_85601014.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023909_92801014.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023942_96001014.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000302102023976_99601014.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023122_14201025.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023279_29801025.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023311_32801025.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023763_78201025.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST0000054377002378_9801025.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023793_81301025.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023834_85601025.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023909_92801025.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023942_96001025.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000543770023976_99601025.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023122_14201027.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023279_29801027.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023311_32801027.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023763_78201027.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST0000054539902378_9801027.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023793_81301027.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023834_85601027.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023909_92801027.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023942_96001027.0TransmembraneHelical
TgeneATP1A3chr1:161182190chr19:42482933ENST00000545399023976_99601027.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for NDUFS2-ATP1A3


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.
>In-frame_ENST00000367993_ENST00000302102_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(transcript)=3457nt_BP=1514nt
GCCCCAGGAGAGGCAGAGAGTGAGGGAAAGGGCCTGGCCGGCATGCACAGATAGGATCACGGTCCTGGGAGAATTCCTGCTCTTATAGTC
TAACCTACCATGGCTTCTCTTTTCTCAAGGCTCCCTCATGCTGCCCTTTGGCCCTAGTGGCTGGTTTCCAGGGCTGAGGGGACTGAGTGA
GCTGCCTGAGAAAAGAGGGTAGGGAACAGAAAAGCCAGCCAGGAGCTGTGGGAGGAAACGCCCTCAGTAAAGATGACCGCGGTCACTGTT
ATCTAAACGCAAGTGAAGCCGAGTCACAGGACCCGGATGTTGTCAGTTCGACGGTAAACGACCCTGCCAGCTTCCAAGAGGGCGGCTTCA
CTGTGCGAATAGGTGAGAAGCCAAGAAGGAGGCGCGCTGGAGTTACTTCCGCCCGGTTCTCCTTCCCGCAGTCTGCAGCCGGAGTAAGAT
GGCGGCGCTGAGGGCTTTGTGCGGCTTCCGGGGCGTCGCGGCCCAGGTGCTGCGGCCTGGGGCTGGAGTCCGATTGCCGATTCAGCCCAG
CAGAGGTGTTCGGCAGTGGCAGCCAGATGTGGAATGGGCACAGCAGTTTGGGGGAGCTGTTATGTACCCAAGCAAAGAAACAGCCCACTG
GAAGCCTCCACCTTGGAATGATGTGGACCCTCCAAAGGACACAATTGTGAAGAACATTACCCTGAACTTTGGGCCCCAACACCCAGCAGC
GCATGGTGTCCTGCGACTAGTGATGGAATTGAGTGGGGAGATGGTGCGGAAGTGTGATCCTCACATCGGGCTCCTGCACCGAGGCACTGA
GAAGCTCATTGAATACAAGACCTATCTTCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTA
TTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGTGCTGTTTGGAGAAATCACACGTTTGTT
GAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGATGTT
TGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGACCTACCCCTTGGGCTTAT
GGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGTTGCTGACCAACAATAGGATCTGGCGAAATCG
GACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGA
CCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGAGTGTC
TAAACAAGATGCCTCCTGGGGAGATCAAGGTTGATGATGCCAAAGTGTCTCCACCTAAGCGAGCAGAGATGAAGGTTGGGTGGAGAAGGA
AACCTACTACTGACCTCAGCCCCACCACATCGCCCATCTCTTCCCCGTCCCCCAGGCCCAGGACCGCCCCTGTCAGTCCCCCCAATTTTG
TATTCTGGGGGGAGGAGCCCTCTCTTCCTGTGGCCCCACCTTGGCCCCCACCCCCTCCACTATCTCCTGCCGCCCCCACTCTGGCTGGCT
TCTCTCCCCTGCCCCAAACCTCTCTCCTCTCTCTTTTCTGTGTCAGTTTCTCTCCCTCTCCTCACCCCTCTATCCATTCCTCCCGCCCCA
GCCACCTCCCTGGGCTCTTTTTTACTCCCCTTCAGCCCCCCGGCTGATGCCATCTCTGGTTCTGGACAATTATCAAATATATCAGTGGGG
AGAGAGAAGCCCAGCTGGTGGTTCTGTGCCTTCCCCTACAGTTTCCTCATCTTCGTCTACGACGAAATCCGCAAACTCATCCTGCGCAGG
AACCCAGGGGGAACAAGATCCTGATCTTCGGGCTGTTTGAGGAGACGGCCCTGGCTGCCTTCCTGTCCTACTGCCCCGGCATGGACGTGG
CCCTGCGCATGTACCCTCTCAAACATACGAGCAGAGGAAGGTGGTGGAGTTCACCTGCCACACGGCCTTCTTTGTGAGCATCGTTGTCGT
CCAGTGGGCCGATCTGATCATCTGCAAGACCCGGAGGAACTCGGTCTTCCAGCAGGGCATGAAGAATGATCCAGGCTCTCGGTGGCTTCT
TCTCTTACTTTGTGATCCTGGCAGAAAATGGCTTCTTGCCCGGCAACCTGGTGGGCATCCGGCTGAACTGGGATGACCGCACCGTCAATG
ACCTGGAAGACAGTTACGGGCAGCAGTGGGTCCCTGCCATCTCACTGGCGTACGAGGCTGCCGAAAGCGACATCATGAAGAGACAGCCCA
GGAACCCGCGGACGGACAAATTGGTCAATGAGAGACTCATCAGCATGGCCTACGGGCAGATTGGCCGCCTGATCTTCGACAACCTAAAGA
AGTCCATTGCCTACACCCTGACCAGCAATATCCCGGAGATCACGCCCTTCCTGCTGTTCATCATGGCCAACATCCCGCTGCCCCTGGGCA
CCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGGTGCAATTGTGGCTGTGACCGGGGATGGTGTGAACGACTCCCCCGCTCTGA
AGAAGGCCGACATTGGGGTGGCCATGGGCATCGCTGGCTCTGACGTCTCCAAGCAGGCAGCTGACATGATCCTGCTGGACGACAACTTTG
CCTCCATCGTCACAGGGGTGGAGGAGGGGATGCCAAGGCCTGCGTGATCCACGGCACCGACCTCAAGGACTTCACCTCCGAGCAAATCGA
CGAGATCCTGCAGAATCACACCGAGATCGTCTTCGCCCGCACATCCCCCCAGCAGAAGCTCATCATTGTGGAGGGCTGTCAGAGACAGGT
CATCATGGTCACCGGCGATCACCCCATCACGGCCAAGGCCATTGCCAAGGGTGTGGGCATCATCTCTGAGGGCAACGAGACTGTGGAGGA
CATCGCCGCCCGGCTCAACATTCCCGTCAGCCAGGTTAACCCCCGGTTTCTGCCATTATTACCTGCCCGAGGAGCAGTTCCCCAAGGGCT
TTGCCTTCGACTGTGATGACGTGAACTTCACCACGGACAACCTCTGCTTTGTGGGCCTCATGTCCATGATCGACCCACCCCGGGCAGCCG
TCCCTGACGCGGTGGGCAAGTGTCGCAGCGCAGGCATCAAGCGAGGACCCCAACGACAACCGATACCTGCTGGTGATGAAGGGTGCCCCC
GAGCGCATCCTGGACCGCTGCTCCACCATCCTGCTACAGGGCAAGGAGCAGCCTCTGGACGAGGAAATGAAGGAGGCCTTCCAGAATGCC

>In-frame_ENST00000367993_ENST00000302102_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(amino acids)=341AA_start in transcript=448_stop in transcript=1473
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPA
AHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRN

--------------------------------------------------------------
>In-frame_ENST00000367993_ENST00000545399_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(transcript)=3455nt_BP=1514nt
GCCCCAGGAGAGGCAGAGAGTGAGGGAAAGGGCCTGGCCGGCATGCACAGATAGGATCACGGTCCTGGGAGAATTCCTGCTCTTATAGTC
TAACCTACCATGGCTTCTCTTTTCTCAAGGCTCCCTCATGCTGCCCTTTGGCCCTAGTGGCTGGTTTCCAGGGCTGAGGGGACTGAGTGA
GCTGCCTGAGAAAAGAGGGTAGGGAACAGAAAAGCCAGCCAGGAGCTGTGGGAGGAAACGCCCTCAGTAAAGATGACCGCGGTCACTGTT
ATCTAAACGCAAGTGAAGCCGAGTCACAGGACCCGGATGTTGTCAGTTCGACGGTAAACGACCCTGCCAGCTTCCAAGAGGGCGGCTTCA
CTGTGCGAATAGGTGAGAAGCCAAGAAGGAGGCGCGCTGGAGTTACTTCCGCCCGGTTCTCCTTCCCGCAGTCTGCAGCCGGAGTAAGAT
GGCGGCGCTGAGGGCTTTGTGCGGCTTCCGGGGCGTCGCGGCCCAGGTGCTGCGGCCTGGGGCTGGAGTCCGATTGCCGATTCAGCCCAG
CAGAGGTGTTCGGCAGTGGCAGCCAGATGTGGAATGGGCACAGCAGTTTGGGGGAGCTGTTATGTACCCAAGCAAAGAAACAGCCCACTG
GAAGCCTCCACCTTGGAATGATGTGGACCCTCCAAAGGACACAATTGTGAAGAACATTACCCTGAACTTTGGGCCCCAACACCCAGCAGC
GCATGGTGTCCTGCGACTAGTGATGGAATTGAGTGGGGAGATGGTGCGGAAGTGTGATCCTCACATCGGGCTCCTGCACCGAGGCACTGA
GAAGCTCATTGAATACAAGACCTATCTTCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTA
TTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGTGCTGTTTGGAGAAATCACACGTTTGTT
GAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGATGTT
TGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGACCTACCCCTTGGGCTTAT
GGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGTTGCTGACCAACAATAGGATCTGGCGAAATCG
GACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGA
CCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGAGTGTC
TAAACAAGATGCCTCCTGGGGAGATCAAGGTTGATGATGCCAAAGTGTCTCCACCTAAGCGAGCAGAGATGAAGGTTGGGTGGAGAAGGA
AACCTACTACTGACCTCAGCCCCACCACATCGCCCATCTCTTCCCCGTCCCCCAGGCCCAGGACCGCCCCTGTCAGTCCCCCCAATTTTG
TATTCTGGGGGGAGGAGCCCTCTCTTCCTGTGGCCCCACCTTGGCCCCCACCCCCTCCACTATCTCCTGCCGCCCCCACTCTGGCTGGCT
TCTCTCCCCTGCCCCAAACCTCTCTCCTCTCTCTTTTCTGTGTCAGTTTCTCTCCCTCTCCTCACCCCTCTATCCATTCCTCCCGCCCCA
GCCACCTCCCTGGGCTCTTTTTTACTCCCCTTCAGCCCCCCGGCTGATGCCATCTCTGGTTCTGGACAATTATCAAATATATCAGTGGGG
AGAGAGGCCCAGCTGGTGGTTCTGTGCCTTCCCCTACAGTTTCCTCATCTTCGTCTACGACGAAATCCGCAAACTCATCCTGCGCAGGAA
CCCAGGGGGAACAAGATCCTGATCTTCGGGCTGTTTGAGGAGACGGCCCTGGCTGCCTTCCTGTCCTACTGCCCCGGCATGGACGTGGCC
CTGCGCATGTACCCTCTCAAACATACGAGCAGAGGAAGGTGGTGGAGTTCACCTGCCACACGGCCTTCTTTGTGAGCATCGTTGTCGTCC
AGTGGGCCGATCTGATCATCTGCAAGACCCGGAGGAACTCGGTCTTCCAGCAGGGCATGAAGAATGATCCAGGCTCTCGGTGGCTTCTTC
TCTTACTTTGTGATCCTGGCAGAAAATGGCTTCTTGCCCGGCAACCTGGTGGGCATCCGGCTGAACTGGGATGACCGCACCGTCAATGAC
CTGGAAGACAGTTACGGGCAGCAGTGGGTCCCTGCCATCTCACTGGCGTACGAGGCTGCCGAAAGCGACATCATGAAGAGACAGCCCAGG
AACCCGCGGACGGACAAATTGGTCAATGAGAGACTCATCAGCATGGCCTACGGGCAGATTGGCCGCCTGATCTTCGACAACCTAAAGAAG
TCCATTGCCTACACCCTGACCAGCAATATCCCGGAGATCACGCCCTTCCTGCTGTTCATCATGGCCAACATCCCGCTGCCCCTGGGCACC
ATCACCATCCTCTGCATCGATCTGGGCACTGACATGGGTGCAATTGTGGCTGTGACCGGGGATGGTGTGAACGACTCCCCCGCTCTGAAG
AAGGCCGACATTGGGGTGGCCATGGGCATCGCTGGCTCTGACGTCTCCAAGCAGGCAGCTGACATGATCCTGCTGGACGACAACTTTGCC
TCCATCGTCACAGGGGTGGAGGAGGGGATGCCAAGGCCTGCGTGATCCACGGCACCGACCTCAAGGACTTCACCTCCGAGCAAATCGACG
AGATCCTGCAGAATCACACCGAGATCGTCTTCGCCCGCACATCCCCCCAGCAGAAGCTCATCATTGTGGAGGGCTGTCAGAGACAGGTCA
TCATGGTCACCGGCGATCACCCCATCACGGCCAAGGCCATTGCCAAGGGTGTGGGCATCATCTCTGAGGGCAACGAGACTGTGGAGGACA
TCGCCGCCCGGCTCAACATTCCCGTCAGCCAGGTTAACCCCCGGTTTCTGCCATTATTACCTGCCCGAGGAGCAGTTCCCCAAGGGCTTT
GCCTTCGACTGTGATGACGTGAACTTCACCACGGACAACCTCTGCTTTGTGGGCCTCATGTCCATGATCGACCCACCCCGGGCAGCCGTC
CCTGACGCGGTGGGCAAGTGTCGCAGCGCAGGCATCAAGCGAGGACCCCAACGACAACCGATACCTGCTGGTGATGAAGGGTGCCCCCGA
GCGCATCCTGGACCGCTGCTCCACCATCCTGCTACAGGGCAAGGAGCAGCCTCTGGACGAGGAAATGAAGGAGGCCTTCCAGAATGCCTA

>In-frame_ENST00000367993_ENST00000545399_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(amino acids)=341AA_start in transcript=448_stop in transcript=1473
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPA
AHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRN

--------------------------------------------------------------
>In-frame_ENST00000367993_ENST00000543770_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(transcript)=3418nt_BP=1514nt
GCCCCAGGAGAGGCAGAGAGTGAGGGAAAGGGCCTGGCCGGCATGCACAGATAGGATCACGGTCCTGGGAGAATTCCTGCTCTTATAGTC
TAACCTACCATGGCTTCTCTTTTCTCAAGGCTCCCTCATGCTGCCCTTTGGCCCTAGTGGCTGGTTTCCAGGGCTGAGGGGACTGAGTGA
GCTGCCTGAGAAAAGAGGGTAGGGAACAGAAAAGCCAGCCAGGAGCTGTGGGAGGAAACGCCCTCAGTAAAGATGACCGCGGTCACTGTT
ATCTAAACGCAAGTGAAGCCGAGTCACAGGACCCGGATGTTGTCAGTTCGACGGTAAACGACCCTGCCAGCTTCCAAGAGGGCGGCTTCA
CTGTGCGAATAGGTGAGAAGCCAAGAAGGAGGCGCGCTGGAGTTACTTCCGCCCGGTTCTCCTTCCCGCAGTCTGCAGCCGGAGTAAGAT
GGCGGCGCTGAGGGCTTTGTGCGGCTTCCGGGGCGTCGCGGCCCAGGTGCTGCGGCCTGGGGCTGGAGTCCGATTGCCGATTCAGCCCAG
CAGAGGTGTTCGGCAGTGGCAGCCAGATGTGGAATGGGCACAGCAGTTTGGGGGAGCTGTTATGTACCCAAGCAAAGAAACAGCCCACTG
GAAGCCTCCACCTTGGAATGATGTGGACCCTCCAAAGGACACAATTGTGAAGAACATTACCCTGAACTTTGGGCCCCAACACCCAGCAGC
GCATGGTGTCCTGCGACTAGTGATGGAATTGAGTGGGGAGATGGTGCGGAAGTGTGATCCTCACATCGGGCTCCTGCACCGAGGCACTGA
GAAGCTCATTGAATACAAGACCTATCTTCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTA
TTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGTGCTGTTTGGAGAAATCACACGTTTGTT
GAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGATGTT
TGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGACCTACCCCTTGGGCTTAT
GGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGTTGCTGACCAACAATAGGATCTGGCGAAATCG
GACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGA
CCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGAGTGTC
TAAACAAGATGCCTCCTGGGGAGATCAAGGTTGATGATGCCAAAGTGTCTCCACCTAAGCGAGCAGAGATGAAGGTTGGGTGGAGAAGGA
AACCTACTACTGACCTCAGCCCCACCACATCGCCCATCTCTTCCCCGTCCCCCAGGCCCAGGACCGCCCCTGTCAGTCCCCCCAATTTTG
TATTCTGGGGGGAGGAGCCCTCTCTTCCTGTGGCCCCACCTTGGCCCCCACCCCCTCCACTATCTCCTGCCGCCCCCACTCTGGCTGGCT
TCTCTCCCCTGCCCCAAACCTCTCTCCTCTCTCTTTTCTGTGTCAGTTTCTCTCCCTCTCCTCACCCCTCTATCCATTCCTCCCGCCCCA
GCCACCTCCCTGGGCTCTTTTTTACTCCCCTTCAGCCCCCCGGCTGATGCCATCTCTGGGCCCAGCTGGTGGTTCTGTGCCTTCCCCTAC
AGTTTCCTCATCTTCGTCTACGACGAAATCCGCAAACTCATCCTGCGCAGGAACCCAGGGGGAACAAGATCCTGATCTTCGGGCTGTTTG
AGGAGACGGCCCTGGCTGCCTTCCTGTCCTACTGCCCCGGCATGGACGTGGCCCTGCGCATGTACCCTCTCAAACATACGAGCAGAGGAA
GGTGGTGGAGTTCACCTGCCACACGGCCTTCTTTGTGAGCATCGTTGTCGTCCAGTGGGCCGATCTGATCATCTGCAAGACCCGGAGGAA
CTCGGTCTTCCAGCAGGGCATGAAGAATGATCCAGGCTCTCGGTGGCTTCTTCTCTTACTTTGTGATCCTGGCAGAAAATGGCTTCTTGC
CCGGCAACCTGGTGGGCATCCGGCTGAACTGGGATGACCGCACCGTCAATGACCTGGAAGACAGTTACGGGCAGCAGTGGGTCCCTGCCA
TCTCACTGGCGTACGAGGCTGCCGAAAGCGACATCATGAAGAGACAGCCCAGGAACCCGCGGACGGACAAATTGGTCAATGAGAGACTCA
TCAGCATGGCCTACGGGCAGATTGGCCGCCTGATCTTCGACAACCTAAAGAAGTCCATTGCCTACACCCTGACCAGCAATATCCCGGAGA
TCACGCCCTTCCTGCTGTTCATCATGGCCAACATCCCGCTGCCCCTGGGCACCATCACCATCCTCTGCATCGATCTGGGCACTGACATGG
GTGCAATTGTGGCTGTGACCGGGGATGGTGTGAACGACTCCCCCGCTCTGAAGAAGGCCGACATTGGGGTGGCCATGGGCATCGCTGGCT
CTGACGTCTCCAAGCAGGCAGCTGACATGATCCTGCTGGACGACAACTTTGCCTCCATCGTCACAGGGGTGGAGGAGGGGATGCCAAGGC
CTGCGTGATCCACGGCACCGACCTCAAGGACTTCACCTCCGAGCAAATCGACGAGATCCTGCAGAATCACACCGAGATCGTCTTCGCCCG
CACATCCCCCCAGCAGAAGCTCATCATTGTGGAGGGCTGTCAGAGACAGGTCATCATGGTCACCGGCGATCACCCCATCACGGCCAAGGC
CATTGCCAAGGGTGTGGGCATCATCTCTGAGGGCAACGAGACTGTGGAGGACATCGCCGCCCGGCTCAACATTCCCGTCAGCCAGGTTAA
CCCCCGGTTTCTGCCATTATTACCTGCCCGAGGAGCAGTTCCCCAAGGGCTTTGCCTTCGACTGTGATGACGTGAACTTCACCACGGACA
ACCTCTGCTTTGTGGGCCTCATGTCCATGATCGACCCACCCCGGGCAGCCGTCCCTGACGCGGTGGGCAAGTGTCGCAGCGCAGGCATCA
AGCGAGGACCCCAACGACAACCGATACCTGCTGGTGATGAAGGGTGCCCCCGAGCGCATCCTGGACCGCTGCTCCACCATCCTGCTACAG

>In-frame_ENST00000367993_ENST00000543770_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(amino acids)=341AA_start in transcript=448_stop in transcript=1473
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPA
AHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRN

--------------------------------------------------------------
>In-frame_ENST00000367993_ENST00000602133_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(transcript)=3257nt_BP=1514nt
GCCCCAGGAGAGGCAGAGAGTGAGGGAAAGGGCCTGGCCGGCATGCACAGATAGGATCACGGTCCTGGGAGAATTCCTGCTCTTATAGTC
TAACCTACCATGGCTTCTCTTTTCTCAAGGCTCCCTCATGCTGCCCTTTGGCCCTAGTGGCTGGTTTCCAGGGCTGAGGGGACTGAGTGA
GCTGCCTGAGAAAAGAGGGTAGGGAACAGAAAAGCCAGCCAGGAGCTGTGGGAGGAAACGCCCTCAGTAAAGATGACCGCGGTCACTGTT
ATCTAAACGCAAGTGAAGCCGAGTCACAGGACCCGGATGTTGTCAGTTCGACGGTAAACGACCCTGCCAGCTTCCAAGAGGGCGGCTTCA
CTGTGCGAATAGGTGAGAAGCCAAGAAGGAGGCGCGCTGGAGTTACTTCCGCCCGGTTCTCCTTCCCGCAGTCTGCAGCCGGAGTAAGAT
GGCGGCGCTGAGGGCTTTGTGCGGCTTCCGGGGCGTCGCGGCCCAGGTGCTGCGGCCTGGGGCTGGAGTCCGATTGCCGATTCAGCCCAG
CAGAGGTGTTCGGCAGTGGCAGCCAGATGTGGAATGGGCACAGCAGTTTGGGGGAGCTGTTATGTACCCAAGCAAAGAAACAGCCCACTG
GAAGCCTCCACCTTGGAATGATGTGGACCCTCCAAAGGACACAATTGTGAAGAACATTACCCTGAACTTTGGGCCCCAACACCCAGCAGC
GCATGGTGTCCTGCGACTAGTGATGGAATTGAGTGGGGAGATGGTGCGGAAGTGTGATCCTCACATCGGGCTCCTGCACCGAGGCACTGA
GAAGCTCATTGAATACAAGACCTATCTTCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTA
TTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGTGCTGTTTGGAGAAATCACACGTTTGTT
GAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGATGTT
TGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGACCTACCCCTTGGGCTTAT
GGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGTTGCTGACCAACAATAGGATCTGGCGAAATCG
GACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGA
CCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGAGTGTC
TAAACAAGATGCCTCCTGGGGAGATCAAGGTTGATGATGCCAAAGTGTCTCCACCTAAGCGAGCAGAGATGAAGGTTGGGTGGAGAAGGA
AACCTACTACTGACCTCAGCCCCACCACATCGCCCATCTCTTCCCCGTCCCCCAGGCCCAGGACCGCCCCTGTCAGTCCCCCCAATTTTG
TATTCTGGGGGGAGGAGCCCTCTCTTCCTGTGGCCCCACCTTGGCCCCCACCCCCTCCACTATCTCCTGCCGCCCCCAGCCCAGCTGGTG
GTTCTGTGCCTTCCCCTACAGTTTCCTCATCTTCGTCTACGACGAAATCCGCAAACTCATCCTGCGCAGGAACCCAGGGGGAACAAGATC
CTGATCTTCGGGCTGTTTGAGGAGACGGCCCTGGCTGCCTTCCTGTCCTACTGCCCCGGCATGGACGTGGCCCTGCGCATGTACCCTCTC
AAACATACGAGCAGAGGAAGGTGGTGGAGTTCACCTGCCACACGGCCTTCTTTGTGAGCATCGTTGTCGTCCAGTGGGCCGATCTGATCA
TCTGCAAGACCCGGAGGAACTCGGTCTTCCAGCAGGGCATGAAGAATGATCCAGGCTCTCGGTGGCTTCTTCTCTTACTTTGTGATCCTG
GCAGAAAATGGCTTCTTGCCCGGCAACCTGGTGGGCATCCGGCTGAACTGGGATGACCGCACCGTCAATGACCTGGAAGACAGTTACGGG
CAGCAGTGGGTCCCTGCCATCTCACTGGCGTACGAGGCTGCCGAAAGCGACATCATGAAGAGACAGCCCAGGAACCCGCGGACGGACAAA
TTGGTCAATGAGAGACTCATCAGCATGGCCTACGGGCAGATTGGCCGCCTGATCTTCGACAACCTAAAGAAGTCCATTGCCTACACCCTG
ACCAGCAATATCCCGGAGATCACGCCCTTCCTGCTGTTCATCATGGCCAACATCCCGCTGCCCCTGGGCACCATCACCATCCTCTGCATC
GATCTGGGCACTGACATGGGTGCAATTGTGGCTGTGACCGGGGATGGTGTGAACGACTCCCCCGCTCTGAAGAAGGCCGACATTGGGGTG
GCCATGGGCATCGCTGGCTCTGACGTCTCCAAGCAGGCAGCTGACATGATCCTGCTGGACGACAACTTTGCCTCCATCGTCACAGGGGTG
GAGGAGGGGATGCCAAGGCCTGCGTGATCCACGGCACCGACCTCAAGGACTTCACCTCCGAGCAAATCGACGAGATCCTGCAGAATCACA
CCGAGATCGTCTTCGCCCGCACATCCCCCCAGCAGAAGCTCATCATTGTGGAGGGCTGTCAGAGACAGGTCATCATGGTCACCGGCGATC
ACCCCATCACGGCCAAGGCCATTGCCAAGGGTGTGGGCATCATCTCTGAGGGCAACGAGACTGTGGAGGACATCGCCGCCCGGCTCAACA
TTCCCGTCAGCCAGGTTAACCCCCGGTTTCTGCCATTATTACCTGCCCGAGGAGCAGTTCCCCAAGGGCTTTGCCTTCGACTGTGATGAC
GTGAACTTCACCACGGACAACCTCTGCTTTGTGGGCCTCATGTCCATGATCGACCCACCCCGGGCAGCCGTCCCTGACGCGGTGGGCAAG
TGTCGCAGCGCAGGCATCAAGCGAGGACCCCAACGACAACCGATACCTGCTGGTGATGAAGGGTGCCCCCGAGCGCATCCTGGACCGCTG
CTCCACCATCCTGCTACAGGGCAAGGAGCAGCCTCTGGACGAGGAAATGAAGGAGGCCTTCCAGAATGCCTACCTTGAGCTCGGTGGCCT

>In-frame_ENST00000367993_ENST00000602133_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(amino acids)=341AA_start in transcript=448_stop in transcript=1473
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPA
AHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRN

--------------------------------------------------------------
>In-frame_ENST00000392179_ENST00000302102_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(transcript)=3248nt_BP=1305nt
AAAAGCCAGCCAGGAGCTGTGGGAGGAAACGCCCTCAGTAAAGATGACCGCGGTCACTGTTATCTAAACGCAAGTGAAGCCGAGTCACAG
GACCCGGATGTTGTCAGTTCGACGGTAAACGACCCTGCCAGCTTCCAAGAGGGCGGCTTCACTGTGCGAATAGGTGAGAAGCCAAGAAGG
AGGCGCGCTGGAGTTACTTCCGCCCGGTTCTCCTTCCCGCAGTCTGCAGCCGGAGTAAGATGGCGGCGCTGAGGGCTTTGTGCGGCTTCC
GGGGCGTCGCGGCCCAGGTGCTGCGGCCTGGGGCTGGAGTCCGATTGCCGATTCAGCCCAGCAGAGGTGTTCGGCAGTGGCAGCCAGATG
TGGAATGGGCACAGCAGTTTGGGGGAGCTGTTATGTACCCAAGCAAAGAAACAGCCCACTGGAAGCCTCCACCTTGGAATGATGTGGACC
CTCCAAAGGACACAATTGTGAAGAACATTACCCTGAACTTTGGGCCCCAACACCCAGCAGCGCATGGTGTCCTGCGACTAGTGATGGAAT
TGAGTGGGGAGATGGTGCGGAAGTGTGATCCTCACATCGGGCTCCTGCACCGAGGCACTGAGAAGCTCATTGAATACAAGACCTATCTTC
AGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACA
TCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATG
CCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCC
GAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACT
TCTCTCTTCGGCTTGATGAGTTGGAGGAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAG
AAGAAGCACTTAACTATGGTTTTAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTT
ACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGAGTGTCTAAACAAGATGCCTCCTGGGGAGATCAAG
GTTGATGATGCCAAAGTGTCTCCACCTAAGCGAGCAGAGATGAAGGTTGGGTGGAGAAGGAAACCTACTACTGACCTCAGCCCCACCACA
TCGCCCATCTCTTCCCCGTCCCCCAGGCCCAGGACCGCCCCTGTCAGTCCCCCCAATTTTGTATTCTGGGGGGAGGAGCCCTCTCTTCCT
GTGGCCCCACCTTGGCCCCCACCCCCTCCACTATCTCCTGCCGCCCCCACTCTGGCTGGCTTCTCTCCCCTGCCCCAAACCTCTCTCCTC
TCTCTTTTCTGTGTCAGTTTCTCTCCCTCTCCTCACCCCTCTATCCATTCCTCCCGCCCCAGCCACCTCCCTGGGCTCTTTTTTACTCCC
CTTCAGCCCCCCGGCTGATGCCATCTCTGGTTCTGGACAATTATCAAATATATCAGTGGGGAGAGAGAAGCCCAGCTGGTGGTTCTGTGC
CTTCCCCTACAGTTTCCTCATCTTCGTCTACGACGAAATCCGCAAACTCATCCTGCGCAGGAACCCAGGGGGAACAAGATCCTGATCTTC
GGGCTGTTTGAGGAGACGGCCCTGGCTGCCTTCCTGTCCTACTGCCCCGGCATGGACGTGGCCCTGCGCATGTACCCTCTCAAACATACG
AGCAGAGGAAGGTGGTGGAGTTCACCTGCCACACGGCCTTCTTTGTGAGCATCGTTGTCGTCCAGTGGGCCGATCTGATCATCTGCAAGA
CCCGGAGGAACTCGGTCTTCCAGCAGGGCATGAAGAATGATCCAGGCTCTCGGTGGCTTCTTCTCTTACTTTGTGATCCTGGCAGAAAAT
GGCTTCTTGCCCGGCAACCTGGTGGGCATCCGGCTGAACTGGGATGACCGCACCGTCAATGACCTGGAAGACAGTTACGGGCAGCAGTGG
GTCCCTGCCATCTCACTGGCGTACGAGGCTGCCGAAAGCGACATCATGAAGAGACAGCCCAGGAACCCGCGGACGGACAAATTGGTCAAT
GAGAGACTCATCAGCATGGCCTACGGGCAGATTGGCCGCCTGATCTTCGACAACCTAAAGAAGTCCATTGCCTACACCCTGACCAGCAAT
ATCCCGGAGATCACGCCCTTCCTGCTGTTCATCATGGCCAACATCCCGCTGCCCCTGGGCACCATCACCATCCTCTGCATCGATCTGGGC
ACTGACATGGGTGCAATTGTGGCTGTGACCGGGGATGGTGTGAACGACTCCCCCGCTCTGAAGAAGGCCGACATTGGGGTGGCCATGGGC
ATCGCTGGCTCTGACGTCTCCAAGCAGGCAGCTGACATGATCCTGCTGGACGACAACTTTGCCTCCATCGTCACAGGGGTGGAGGAGGGG
ATGCCAAGGCCTGCGTGATCCACGGCACCGACCTCAAGGACTTCACCTCCGAGCAAATCGACGAGATCCTGCAGAATCACACCGAGATCG
TCTTCGCCCGCACATCCCCCCAGCAGAAGCTCATCATTGTGGAGGGCTGTCAGAGACAGGTCATCATGGTCACCGGCGATCACCCCATCA
CGGCCAAGGCCATTGCCAAGGGTGTGGGCATCATCTCTGAGGGCAACGAGACTGTGGAGGACATCGCCGCCCGGCTCAACATTCCCGTCA
GCCAGGTTAACCCCCGGTTTCTGCCATTATTACCTGCCCGAGGAGCAGTTCCCCAAGGGCTTTGCCTTCGACTGTGATGACGTGAACTTC
ACCACGGACAACCTCTGCTTTGTGGGCCTCATGTCCATGATCGACCCACCCCGGGCAGCCGTCCCTGACGCGGTGGGCAAGTGTCGCAGC
GCAGGCATCAAGCGAGGACCCCAACGACAACCGATACCTGCTGGTGATGAAGGGTGCCCCCGAGCGCATCCTGGACCGCTGCTCCACCAT
CCTGCTACAGGGCAAGGAGCAGCCTCTGGACGAGGAAATGAAGGAGGCCTTCCAGAATGCCTACCTTGAGCTCGGTGGCCTGGGCGAGCG

>In-frame_ENST00000392179_ENST00000302102_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(amino acids)=341AA_start in transcript=239_stop in transcript=1264
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPA
AHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRN

--------------------------------------------------------------
>In-frame_ENST00000392179_ENST00000545399_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(transcript)=3246nt_BP=1305nt
AAAAGCCAGCCAGGAGCTGTGGGAGGAAACGCCCTCAGTAAAGATGACCGCGGTCACTGTTATCTAAACGCAAGTGAAGCCGAGTCACAG
GACCCGGATGTTGTCAGTTCGACGGTAAACGACCCTGCCAGCTTCCAAGAGGGCGGCTTCACTGTGCGAATAGGTGAGAAGCCAAGAAGG
AGGCGCGCTGGAGTTACTTCCGCCCGGTTCTCCTTCCCGCAGTCTGCAGCCGGAGTAAGATGGCGGCGCTGAGGGCTTTGTGCGGCTTCC
GGGGCGTCGCGGCCCAGGTGCTGCGGCCTGGGGCTGGAGTCCGATTGCCGATTCAGCCCAGCAGAGGTGTTCGGCAGTGGCAGCCAGATG
TGGAATGGGCACAGCAGTTTGGGGGAGCTGTTATGTACCCAAGCAAAGAAACAGCCCACTGGAAGCCTCCACCTTGGAATGATGTGGACC
CTCCAAAGGACACAATTGTGAAGAACATTACCCTGAACTTTGGGCCCCAACACCCAGCAGCGCATGGTGTCCTGCGACTAGTGATGGAAT
TGAGTGGGGAGATGGTGCGGAAGTGTGATCCTCACATCGGGCTCCTGCACCGAGGCACTGAGAAGCTCATTGAATACAAGACCTATCTTC
AGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACA
TCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATG
CCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCC
GAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACT
TCTCTCTTCGGCTTGATGAGTTGGAGGAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAG
AAGAAGCACTTAACTATGGTTTTAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTT
ACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGAGTGTCTAAACAAGATGCCTCCTGGGGAGATCAAG
GTTGATGATGCCAAAGTGTCTCCACCTAAGCGAGCAGAGATGAAGGTTGGGTGGAGAAGGAAACCTACTACTGACCTCAGCCCCACCACA
TCGCCCATCTCTTCCCCGTCCCCCAGGCCCAGGACCGCCCCTGTCAGTCCCCCCAATTTTGTATTCTGGGGGGAGGAGCCCTCTCTTCCT
GTGGCCCCACCTTGGCCCCCACCCCCTCCACTATCTCCTGCCGCCCCCACTCTGGCTGGCTTCTCTCCCCTGCCCCAAACCTCTCTCCTC
TCTCTTTTCTGTGTCAGTTTCTCTCCCTCTCCTCACCCCTCTATCCATTCCTCCCGCCCCAGCCACCTCCCTGGGCTCTTTTTTACTCCC
CTTCAGCCCCCCGGCTGATGCCATCTCTGGTTCTGGACAATTATCAAATATATCAGTGGGGAGAGAGGCCCAGCTGGTGGTTCTGTGCCT
TCCCCTACAGTTTCCTCATCTTCGTCTACGACGAAATCCGCAAACTCATCCTGCGCAGGAACCCAGGGGGAACAAGATCCTGATCTTCGG
GCTGTTTGAGGAGACGGCCCTGGCTGCCTTCCTGTCCTACTGCCCCGGCATGGACGTGGCCCTGCGCATGTACCCTCTCAAACATACGAG
CAGAGGAAGGTGGTGGAGTTCACCTGCCACACGGCCTTCTTTGTGAGCATCGTTGTCGTCCAGTGGGCCGATCTGATCATCTGCAAGACC
CGGAGGAACTCGGTCTTCCAGCAGGGCATGAAGAATGATCCAGGCTCTCGGTGGCTTCTTCTCTTACTTTGTGATCCTGGCAGAAAATGG
CTTCTTGCCCGGCAACCTGGTGGGCATCCGGCTGAACTGGGATGACCGCACCGTCAATGACCTGGAAGACAGTTACGGGCAGCAGTGGGT
CCCTGCCATCTCACTGGCGTACGAGGCTGCCGAAAGCGACATCATGAAGAGACAGCCCAGGAACCCGCGGACGGACAAATTGGTCAATGA
GAGACTCATCAGCATGGCCTACGGGCAGATTGGCCGCCTGATCTTCGACAACCTAAAGAAGTCCATTGCCTACACCCTGACCAGCAATAT
CCCGGAGATCACGCCCTTCCTGCTGTTCATCATGGCCAACATCCCGCTGCCCCTGGGCACCATCACCATCCTCTGCATCGATCTGGGCAC
TGACATGGGTGCAATTGTGGCTGTGACCGGGGATGGTGTGAACGACTCCCCCGCTCTGAAGAAGGCCGACATTGGGGTGGCCATGGGCAT
CGCTGGCTCTGACGTCTCCAAGCAGGCAGCTGACATGATCCTGCTGGACGACAACTTTGCCTCCATCGTCACAGGGGTGGAGGAGGGGAT
GCCAAGGCCTGCGTGATCCACGGCACCGACCTCAAGGACTTCACCTCCGAGCAAATCGACGAGATCCTGCAGAATCACACCGAGATCGTC
TTCGCCCGCACATCCCCCCAGCAGAAGCTCATCATTGTGGAGGGCTGTCAGAGACAGGTCATCATGGTCACCGGCGATCACCCCATCACG
GCCAAGGCCATTGCCAAGGGTGTGGGCATCATCTCTGAGGGCAACGAGACTGTGGAGGACATCGCCGCCCGGCTCAACATTCCCGTCAGC
CAGGTTAACCCCCGGTTTCTGCCATTATTACCTGCCCGAGGAGCAGTTCCCCAAGGGCTTTGCCTTCGACTGTGATGACGTGAACTTCAC
CACGGACAACCTCTGCTTTGTGGGCCTCATGTCCATGATCGACCCACCCCGGGCAGCCGTCCCTGACGCGGTGGGCAAGTGTCGCAGCGC
AGGCATCAAGCGAGGACCCCAACGACAACCGATACCTGCTGGTGATGAAGGGTGCCCCCGAGCGCATCCTGGACCGCTGCTCCACCATCC
TGCTACAGGGCAAGGAGCAGCCTCTGGACGAGGAAATGAAGGAGGCCTTCCAGAATGCCTACCTTGAGCTCGGTGGCCTGGGCGAGCGCG

>In-frame_ENST00000392179_ENST00000545399_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(amino acids)=341AA_start in transcript=239_stop in transcript=1264
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPA
AHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRN

--------------------------------------------------------------
>In-frame_ENST00000392179_ENST00000543770_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(transcript)=3209nt_BP=1305nt
AAAAGCCAGCCAGGAGCTGTGGGAGGAAACGCCCTCAGTAAAGATGACCGCGGTCACTGTTATCTAAACGCAAGTGAAGCCGAGTCACAG
GACCCGGATGTTGTCAGTTCGACGGTAAACGACCCTGCCAGCTTCCAAGAGGGCGGCTTCACTGTGCGAATAGGTGAGAAGCCAAGAAGG
AGGCGCGCTGGAGTTACTTCCGCCCGGTTCTCCTTCCCGCAGTCTGCAGCCGGAGTAAGATGGCGGCGCTGAGGGCTTTGTGCGGCTTCC
GGGGCGTCGCGGCCCAGGTGCTGCGGCCTGGGGCTGGAGTCCGATTGCCGATTCAGCCCAGCAGAGGTGTTCGGCAGTGGCAGCCAGATG
TGGAATGGGCACAGCAGTTTGGGGGAGCTGTTATGTACCCAAGCAAAGAAACAGCCCACTGGAAGCCTCCACCTTGGAATGATGTGGACC
CTCCAAAGGACACAATTGTGAAGAACATTACCCTGAACTTTGGGCCCCAACACCCAGCAGCGCATGGTGTCCTGCGACTAGTGATGGAAT
TGAGTGGGGAGATGGTGCGGAAGTGTGATCCTCACATCGGGCTCCTGCACCGAGGCACTGAGAAGCTCATTGAATACAAGACCTATCTTC
AGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACA
TCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATG
CCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCC
GAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACT
TCTCTCTTCGGCTTGATGAGTTGGAGGAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAG
AAGAAGCACTTAACTATGGTTTTAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTT
ACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGAGTGTCTAAACAAGATGCCTCCTGGGGAGATCAAG
GTTGATGATGCCAAAGTGTCTCCACCTAAGCGAGCAGAGATGAAGGTTGGGTGGAGAAGGAAACCTACTACTGACCTCAGCCCCACCACA
TCGCCCATCTCTTCCCCGTCCCCCAGGCCCAGGACCGCCCCTGTCAGTCCCCCCAATTTTGTATTCTGGGGGGAGGAGCCCTCTCTTCCT
GTGGCCCCACCTTGGCCCCCACCCCCTCCACTATCTCCTGCCGCCCCCACTCTGGCTGGCTTCTCTCCCCTGCCCCAAACCTCTCTCCTC
TCTCTTTTCTGTGTCAGTTTCTCTCCCTCTCCTCACCCCTCTATCCATTCCTCCCGCCCCAGCCACCTCCCTGGGCTCTTTTTTACTCCC
CTTCAGCCCCCCGGCTGATGCCATCTCTGGGCCCAGCTGGTGGTTCTGTGCCTTCCCCTACAGTTTCCTCATCTTCGTCTACGACGAAAT
CCGCAAACTCATCCTGCGCAGGAACCCAGGGGGAACAAGATCCTGATCTTCGGGCTGTTTGAGGAGACGGCCCTGGCTGCCTTCCTGTCC
TACTGCCCCGGCATGGACGTGGCCCTGCGCATGTACCCTCTCAAACATACGAGCAGAGGAAGGTGGTGGAGTTCACCTGCCACACGGCCT
TCTTTGTGAGCATCGTTGTCGTCCAGTGGGCCGATCTGATCATCTGCAAGACCCGGAGGAACTCGGTCTTCCAGCAGGGCATGAAGAATG
ATCCAGGCTCTCGGTGGCTTCTTCTCTTACTTTGTGATCCTGGCAGAAAATGGCTTCTTGCCCGGCAACCTGGTGGGCATCCGGCTGAAC
TGGGATGACCGCACCGTCAATGACCTGGAAGACAGTTACGGGCAGCAGTGGGTCCCTGCCATCTCACTGGCGTACGAGGCTGCCGAAAGC
GACATCATGAAGAGACAGCCCAGGAACCCGCGGACGGACAAATTGGTCAATGAGAGACTCATCAGCATGGCCTACGGGCAGATTGGCCGC
CTGATCTTCGACAACCTAAAGAAGTCCATTGCCTACACCCTGACCAGCAATATCCCGGAGATCACGCCCTTCCTGCTGTTCATCATGGCC
AACATCCCGCTGCCCCTGGGCACCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGGTGCAATTGTGGCTGTGACCGGGGATGGT
GTGAACGACTCCCCCGCTCTGAAGAAGGCCGACATTGGGGTGGCCATGGGCATCGCTGGCTCTGACGTCTCCAAGCAGGCAGCTGACATG
ATCCTGCTGGACGACAACTTTGCCTCCATCGTCACAGGGGTGGAGGAGGGGATGCCAAGGCCTGCGTGATCCACGGCACCGACCTCAAGG
ACTTCACCTCCGAGCAAATCGACGAGATCCTGCAGAATCACACCGAGATCGTCTTCGCCCGCACATCCCCCCAGCAGAAGCTCATCATTG
TGGAGGGCTGTCAGAGACAGGTCATCATGGTCACCGGCGATCACCCCATCACGGCCAAGGCCATTGCCAAGGGTGTGGGCATCATCTCTG
AGGGCAACGAGACTGTGGAGGACATCGCCGCCCGGCTCAACATTCCCGTCAGCCAGGTTAACCCCCGGTTTCTGCCATTATTACCTGCCC
GAGGAGCAGTTCCCCAAGGGCTTTGCCTTCGACTGTGATGACGTGAACTTCACCACGGACAACCTCTGCTTTGTGGGCCTCATGTCCATG
ATCGACCCACCCCGGGCAGCCGTCCCTGACGCGGTGGGCAAGTGTCGCAGCGCAGGCATCAAGCGAGGACCCCAACGACAACCGATACCT
GCTGGTGATGAAGGGTGCCCCCGAGCGCATCCTGGACCGCTGCTCCACCATCCTGCTACAGGGCAAGGAGCAGCCTCTGGACGAGGAAAT

>In-frame_ENST00000392179_ENST00000543770_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(amino acids)=341AA_start in transcript=239_stop in transcript=1264
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPA
AHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRN

--------------------------------------------------------------
>In-frame_ENST00000392179_ENST00000602133_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(transcript)=3048nt_BP=1305nt
AAAAGCCAGCCAGGAGCTGTGGGAGGAAACGCCCTCAGTAAAGATGACCGCGGTCACTGTTATCTAAACGCAAGTGAAGCCGAGTCACAG
GACCCGGATGTTGTCAGTTCGACGGTAAACGACCCTGCCAGCTTCCAAGAGGGCGGCTTCACTGTGCGAATAGGTGAGAAGCCAAGAAGG
AGGCGCGCTGGAGTTACTTCCGCCCGGTTCTCCTTCCCGCAGTCTGCAGCCGGAGTAAGATGGCGGCGCTGAGGGCTTTGTGCGGCTTCC
GGGGCGTCGCGGCCCAGGTGCTGCGGCCTGGGGCTGGAGTCCGATTGCCGATTCAGCCCAGCAGAGGTGTTCGGCAGTGGCAGCCAGATG
TGGAATGGGCACAGCAGTTTGGGGGAGCTGTTATGTACCCAAGCAAAGAAACAGCCCACTGGAAGCCTCCACCTTGGAATGATGTGGACC
CTCCAAAGGACACAATTGTGAAGAACATTACCCTGAACTTTGGGCCCCAACACCCAGCAGCGCATGGTGTCCTGCGACTAGTGATGGAAT
TGAGTGGGGAGATGGTGCGGAAGTGTGATCCTCACATCGGGCTCCTGCACCGAGGCACTGAGAAGCTCATTGAATACAAGACCTATCTTC
AGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACA
TCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATG
CCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCC
GAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACT
TCTCTCTTCGGCTTGATGAGTTGGAGGAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAG
AAGAAGCACTTAACTATGGTTTTAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTT
ACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGAGTGTCTAAACAAGATGCCTCCTGGGGAGATCAAG
GTTGATGATGCCAAAGTGTCTCCACCTAAGCGAGCAGAGATGAAGGTTGGGTGGAGAAGGAAACCTACTACTGACCTCAGCCCCACCACA
TCGCCCATCTCTTCCCCGTCCCCCAGGCCCAGGACCGCCCCTGTCAGTCCCCCCAATTTTGTATTCTGGGGGGAGGAGCCCTCTCTTCCT
GTGGCCCCACCTTGGCCCCCACCCCCTCCACTATCTCCTGCCGCCCCCAGCCCAGCTGGTGGTTCTGTGCCTTCCCCTACAGTTTCCTCA
TCTTCGTCTACGACGAAATCCGCAAACTCATCCTGCGCAGGAACCCAGGGGGAACAAGATCCTGATCTTCGGGCTGTTTGAGGAGACGGC
CCTGGCTGCCTTCCTGTCCTACTGCCCCGGCATGGACGTGGCCCTGCGCATGTACCCTCTCAAACATACGAGCAGAGGAAGGTGGTGGAG
TTCACCTGCCACACGGCCTTCTTTGTGAGCATCGTTGTCGTCCAGTGGGCCGATCTGATCATCTGCAAGACCCGGAGGAACTCGGTCTTC
CAGCAGGGCATGAAGAATGATCCAGGCTCTCGGTGGCTTCTTCTCTTACTTTGTGATCCTGGCAGAAAATGGCTTCTTGCCCGGCAACCT
GGTGGGCATCCGGCTGAACTGGGATGACCGCACCGTCAATGACCTGGAAGACAGTTACGGGCAGCAGTGGGTCCCTGCCATCTCACTGGC
GTACGAGGCTGCCGAAAGCGACATCATGAAGAGACAGCCCAGGAACCCGCGGACGGACAAATTGGTCAATGAGAGACTCATCAGCATGGC
CTACGGGCAGATTGGCCGCCTGATCTTCGACAACCTAAAGAAGTCCATTGCCTACACCCTGACCAGCAATATCCCGGAGATCACGCCCTT
CCTGCTGTTCATCATGGCCAACATCCCGCTGCCCCTGGGCACCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGGTGCAATTGT
GGCTGTGACCGGGGATGGTGTGAACGACTCCCCCGCTCTGAAGAAGGCCGACATTGGGGTGGCCATGGGCATCGCTGGCTCTGACGTCTC
CAAGCAGGCAGCTGACATGATCCTGCTGGACGACAACTTTGCCTCCATCGTCACAGGGGTGGAGGAGGGGATGCCAAGGCCTGCGTGATC
CACGGCACCGACCTCAAGGACTTCACCTCCGAGCAAATCGACGAGATCCTGCAGAATCACACCGAGATCGTCTTCGCCCGCACATCCCCC
CAGCAGAAGCTCATCATTGTGGAGGGCTGTCAGAGACAGGTCATCATGGTCACCGGCGATCACCCCATCACGGCCAAGGCCATTGCCAAG
GGTGTGGGCATCATCTCTGAGGGCAACGAGACTGTGGAGGACATCGCCGCCCGGCTCAACATTCCCGTCAGCCAGGTTAACCCCCGGTTT
CTGCCATTATTACCTGCCCGAGGAGCAGTTCCCCAAGGGCTTTGCCTTCGACTGTGATGACGTGAACTTCACCACGGACAACCTCTGCTT
TGTGGGCCTCATGTCCATGATCGACCCACCCCGGGCAGCCGTCCCTGACGCGGTGGGCAAGTGTCGCAGCGCAGGCATCAAGCGAGGACC
CCAACGACAACCGATACCTGCTGGTGATGAAGGGTGCCCCCGAGCGCATCCTGGACCGCTGCTCCACCATCCTGCTACAGGGCAAGGAGC

>In-frame_ENST00000392179_ENST00000602133_BQ339562_NDUFS2_chr1_161182190_+_ATP1A3_chr19_42482933_length(amino acids)=341AA_start in transcript=239_stop in transcript=1264
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPA
AHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRN

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

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Fusion Gene PPI Analysis for NDUFS2-ATP1A3


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
TgeneATP1A3chr1:161182190chr19:42482933ENST0000030210202372_7401014.0phosphoinositide-3 kinase
TgeneATP1A3chr1:161182190chr19:42482933ENST0000054377002372_7401025.0phosphoinositide-3 kinase
TgeneATP1A3chr1:161182190chr19:42482933ENST0000054539902372_7401027.0phosphoinositide-3 kinase


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 NDUFS2-ATP1A3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneATP1A3P13637DB01092OuabainInhibitorSmall moleculeApproved

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Related Diseases for NDUFS2-ATP1A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNDUFS2C1838979MITOCHONDRIAL COMPLEX I DEFICIENCY4GENOMICS_ENGLAND;ORPHANET
HgeneNDUFS2C0023264Leigh Disease2GENOMICS_ENGLAND
HgeneNDUFS2C4748759MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 62GENOMICS_ENGLAND;UNIPROT
HgeneNDUFS2C0033141Cardiomyopathies, Primary1CTD_human
HgeneNDUFS2C0036529Myocardial Diseases, Secondary1CTD_human
HgeneNDUFS2C0162666Mitochondrial Encephalomyopathies1CTD_human
HgeneNDUFS2C0751651Mitochondrial Diseases1GENOMICS_ENGLAND
HgeneNDUFS2C0878544Cardiomyopathies1CTD_human
HgeneNDUFS2C0917796Optic Atrophy, Hereditary, Leber1ORPHANET
TgeneATP1A3C1868681DYSTONIA 126CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneATP1A3C3553788ALTERNATING HEMIPLEGIA OF CHILDHOOD 26GENOMICS_ENGLAND;UNIPROT
TgeneATP1A3C1832466CAPOS syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneATP1A3C0338488Alternating hemiplegia of childhood3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneATP1A3C0005586Bipolar Disorder2PSYGENET
TgeneATP1A3C0011570Mental Depression1PSYGENET
TgeneATP1A3C0011581Depressive disorder1PSYGENET
TgeneATP1A3C0013421Dystonia1CTD_human
TgeneATP1A3C0018801Heart failure1CTD_human
TgeneATP1A3C0018802Congestive heart failure1CTD_human
TgeneATP1A3C0023212Left-Sided Heart Failure1CTD_human
TgeneATP1A3C0029408Degenerative polyarthritis1CTD_human
TgeneATP1A3C0086743Osteoarthrosis Deformans1CTD_human
TgeneATP1A3C0178417Anhedonia1PSYGENET
TgeneATP1A3C0235527Heart Failure, Right-Sided1CTD_human
TgeneATP1A3C0242422Parkinsonian Disorders1CTD_human
TgeneATP1A3C0242423Ramsay Hunt Paralysis Syndrome1CTD_human
TgeneATP1A3C0242698Ventricular Dysfunction, Left1CTD_human
TgeneATP1A3C0393588Dystonia, Paroxysmal1CTD_human
TgeneATP1A3C0393610Dystonia, Diurnal1CTD_human
TgeneATP1A3C0751093Dystonia, Limb1CTD_human
TgeneATP1A3C0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
TgeneATP1A3C0752098Autosomal Dominant Parkinsonism1CTD_human
TgeneATP1A3C0752100Autosomal Recessive Parkinsonism1CTD_human
TgeneATP1A3C0752101Parkinsonism, Experimental1CTD_human
TgeneATP1A3C0752104Familial Juvenile Parkinsonism1CTD_human
TgeneATP1A3C0752105Parkinsonism, Juvenile1CTD_human
TgeneATP1A3C1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human
TgeneATP1A3C1959583Myocardial Failure1CTD_human
TgeneATP1A3C1961112Heart Decompensation1CTD_human
TgeneATP1A3C3549447ALTERNATING HEMIPLEGIA OF CHILDHOOD 11GENOMICS_ENGLAND