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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:ATP1A1-PEX19 (FusionGDB2 ID:7865)

Fusion Gene Summary for ATP1A1-PEX19

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP1A1-PEX19
Fusion gene ID: 7865
HgeneTgene
Gene symbol

ATP1A1

PEX19

Gene ID

480

5824

Gene nameATPase Na+/K+ transporting subunit alpha 4peroxisomal biogenesis factor 19
SynonymsATP1A1|ATP1AL2D1S2223E|HK33|PBD12A|PMP1|PMPI|PXF|PXMP1
Cytomap

1q23.2

1q23.2

Type of geneprotein-codingprotein-coding
Descriptionsodium/potassium-transporting ATPase subunit alpha-4ATPase, Na+/K+ transporting, alpha 4 polypeptideATPase, Na+/K+ transporting, alpha polypeptide-like 2Na(+)/K(+) ATPase alpha-4 subunitNa+/K+ ATPase 4Na+/K+ ATPase, alpha-D polypeptideNa,K-ATPase superoxisomal biogenesis factor 1933 kDa housekeeping proteinhousekeeping gene, 33kDperoxin-19peroxisomal farnesylated protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000295598, ENST00000537345, 
ENST00000369496, ENST00000491156, 
ENST00000368072, ENST00000440949, 
ENST00000532508, 
Fusion gene scores* DoF score16 X 18 X 7=20166 X 8 X 3=144
# samples 239
** MAII scorelog2(23/2016*10)=-3.13178987255554
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/144*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP1A1 [Title/Abstract] AND PEX19 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP1A1(116930113)-PEX19(160251990), # 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
HgeneATP1A1

GO:0030317

flagellated sperm motility

12112599

HgeneATP1A1

GO:0030641

regulation of cellular pH

12112599

TgenePEX19

GO:0006625

protein targeting to peroxisome

16344115|16763195

TgenePEX19

GO:0045046

protein import into peroxisome membrane

11402059|14709540

TgenePEX19

GO:0050821

protein stabilization

14709540|16344115

TgenePEX19

GO:0061077

chaperone-mediated protein folding

14709540

TgenePEX19

GO:0072321

chaperone-mediated protein transport

11402059|14709540

TgenePEX19

GO:1900131

negative regulation of lipid binding

19715730


check buttonFusion gene breakpoints across ATP1A1 (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 PEX19 (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
ChimerDB4SKCMTCGA-EE-A29D-06AATP1A1chr1

116930113

+PEX19chr1

160251990

-


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Fusion Gene ORF analysis for ATP1A1-PEX19

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-frameENST00000295598ENST00000368072ATP1A1chr1

116930113

+PEX19chr1

160251990

-
In-frameENST00000295598ENST00000440949ATP1A1chr1

116930113

+PEX19chr1

160251990

-
5CDS-5UTRENST00000295598ENST00000532508ATP1A1chr1

116930113

+PEX19chr1

160251990

-
In-frameENST00000537345ENST00000368072ATP1A1chr1

116930113

+PEX19chr1

160251990

-
In-frameENST00000537345ENST00000440949ATP1A1chr1

116930113

+PEX19chr1

160251990

-
5CDS-5UTRENST00000537345ENST00000532508ATP1A1chr1

116930113

+PEX19chr1

160251990

-
In-frameENST00000369496ENST00000368072ATP1A1chr1

116930113

+PEX19chr1

160251990

-
In-frameENST00000369496ENST00000440949ATP1A1chr1

116930113

+PEX19chr1

160251990

-
5CDS-5UTRENST00000369496ENST00000532508ATP1A1chr1

116930113

+PEX19chr1

160251990

-
intron-3CDSENST00000491156ENST00000368072ATP1A1chr1

116930113

+PEX19chr1

160251990

-
intron-3CDSENST00000491156ENST00000440949ATP1A1chr1

116930113

+PEX19chr1

160251990

-
intron-5UTRENST00000491156ENST00000532508ATP1A1chr1

116930113

+PEX19chr1

160251990

-

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)
ENST00000295598ATP1A1chr1116930113+ENST00000368072PEX19chr1160251990-38466392371106289
ENST00000295598ATP1A1chr1116930113+ENST00000440949PEX19chr1160251990-21776392371106289
ENST00000537345ATP1A1chr1116930113+ENST00000368072PEX19chr1160251990-39577503181217299
ENST00000537345ATP1A1chr1116930113+ENST00000440949PEX19chr1160251990-22887503181217299
ENST00000369496ATP1A1chr1116930113+ENST00000368072PEX19chr1160251990-37665591631026287
ENST00000369496ATP1A1chr1116930113+ENST00000440949PEX19chr1160251990-20975591631026287

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
ENST00000295598ENST00000368072ATP1A1chr1116930113+PEX19chr1160251990-0.0007704490.99922955
ENST00000295598ENST00000440949ATP1A1chr1116930113+PEX19chr1160251990-0.0026325390.99736744
ENST00000537345ENST00000368072ATP1A1chr1116930113+PEX19chr1160251990-0.0006063620.9993936
ENST00000537345ENST00000440949ATP1A1chr1116930113+PEX19chr1160251990-0.0020716860.99792826
ENST00000369496ENST00000368072ATP1A1chr1116930113+PEX19chr1160251990-0.0008654150.9991346
ENST00000369496ENST00000440949ATP1A1chr1116930113+PEX19chr1160251990-0.0024487320.99755126

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Fusion Genomic Features for ATP1A1-PEX19


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 ATP1A1-PEX19


check button Go to

FGviewer for the breakpoints of chr1:116930113-chr1:160251990

.
- 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
..
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: 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.

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
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+42382_84129.01024.0RegionPhosphoinositide-3 kinase binding
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+42382_8498.0993.0RegionPhosphoinositide-3 kinase binding
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+42382_84129.01024.0RegionPhosphoinositide-3 kinase binding
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423109_131129.01024.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+4236_87129.01024.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+4236_8798.0993.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423109_131129.01024.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+4236_87129.01024.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+42388_108129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+42388_108129.01024.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+4231007_1023129.01024.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423153_288129.01024.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423309_320129.01024.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423339_772129.01024.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423793_802129.01024.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423824_843129.01024.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423867_918129.01024.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423939_951129.01024.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423971_985129.01024.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+4231007_102398.0993.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423109_13198.0993.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423153_28898.0993.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423309_32098.0993.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423339_77298.0993.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423793_80298.0993.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423824_84398.0993.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423867_91898.0993.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423939_95198.0993.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423971_98598.0993.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+4231007_1023129.01024.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423153_288129.01024.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423309_320129.01024.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423339_772129.01024.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423793_802129.01024.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423824_843129.01024.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423867_918129.01024.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423939_951129.01024.0Topological domainCytoplasmic
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423971_985129.01024.0Topological domainExtracellular
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423132_152129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423289_308129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423321_338129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423773_792129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423803_823129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423844_866129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423919_938129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423952_970129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000295598+423986_1006129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423132_15298.0993.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423289_30898.0993.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423321_33898.0993.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423773_79298.0993.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423803_82398.0993.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423844_86698.0993.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+42388_10898.0993.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423919_93898.0993.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423952_97098.0993.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000369496+423986_100698.0993.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423132_152129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423289_308129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423321_338129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423773_792129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423803_823129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423844_866129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423919_938129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423952_970129.01024.0TransmembraneHelical
HgeneATP1A1chr1:116930113chr1:160251990ENST00000537345+423986_1006129.01024.0TransmembraneHelical
TgenePEX19chr1:116930113chr1:160251990ENST00000368072382_56144.0300.0RegionNote=Docking to the peroxisome membrane and binding to PEX3
TgenePEX19chr1:116930113chr1:160251990ENST00000368072382_91144.0300.0RegionNote=Necessary for PEX19 function on peroxisome biogenesis


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Fusion Gene Sequence for ATP1A1-PEX19


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_ENST00000295598_ENST00000368072_TCGA-EE-A29D-06A_ATP1A1_chr1_116930113_+_PEX19_chr1_160251990_length(transcript)=3846nt_BP=639nt
CTGGGGCGCAGAGCAGCGGCGGGAGGAGGCGGACACGTGGCAACAGCGGTAGCAGCCCGGGCGGCGGCAGCAACAGCGGCGGCGGCATCG
GCCCGAGCCGCCGGCCGCCCTCCCACCCTCCCGCCCCGCGGCAGCCCTAGCTCCCTCCACTTGGCTCCCCTGGTCCCGCTCGCTCGGCCG
GGAGCTGCTCTGTGCTTTTCTCTCTGATTCTCCAGCGACAGGACCCGGCGCCGGGCACTGAGCACCGCCACCATGGGGAAGGGGGTTGGA
CGTGATAAGTATGAGCCTGCAGCTGTTTCAGAACAAGGTGATAAAAAGGGCAAAAAGGGCAAAAAAGACAGGGACATGGATGAACTGAAG
AAAGAAGTTTCTATGGATGATCATAAACTTAGCCTTGATGAACTTCATCGTAAATATGGAACAGACTTGAGCCGGGGATTAACATCTGCT
CGTGCAGCTGAGATCCTGGCGCGAGATGGTCCCAACGCCCTCACTCCCCCTCCCACTACTCCTGAATGGATCAAGTTTTGTCGGCAGCTC
TTTGGGGGGTTCTCAATGTTACTGTGGATTGGAGCGATTCTTTGTTTCTTGGCTTATAGCATCCAAGCTGCTACAGAAGAGGAACCTCAA
AACGATAATAACTCCAGCATGTCGGAAGAAGAGCTGACCAAGGCCATGGAGGGGCTAGGCATGGACGAAGGGGATGGGGAAGGGAACATC
CTCCCCATCATGCAGAGTATTATGCAGAACCTACTCTCCAAGGATGTGCTGTACCCATCACTGAAGGAGATCACAGAAAAGTATCCAGAA
TGGTTGCAGAGTCATCGGGAATCTCTACCTCCAGAGCAGTTTGAAAAATATCAGGAGCAGCACAGCGTCATGTGCAAAATATGTGAGCAG
TTTGAGGCAGAGACCCCCACAGACAGTGAAACCACTCAAAAGGCTCGTTTTGAGATGGTGCTGGATCTTATGCAGCAGCTACAAGATTTA
GGCCATCCTCCAAAAGAGCTGGCTGGAGAGATGCCTCCTGGCCTCAACTTTGACCTGGATGCCCTCAATCTTTCGGGCCCACCAGGTGCC
AGTGGTGAACAGTGTCTGATCATGTGAAACACAACACGTTTTCCTCTCTGAGTCCCAGCTATGGGGAACATCTGGAGTCAGCAGAACCAT
TGGGACCTGAGGCAGGAGTGTCACCTGCGGGAGAAGTCTGCCCGCTGCCCTCTGTCATCCCATTCAAGATTGTGCCATACCAGCTGAGGT
TTTTCCTCTGTCTCTCTAGGAATAGGGTCTGTTTCACAGGCCATTTCTGTGAACCCTACTCCATTGTGGTTTCTGCCACTATCAAAGTTC
CAGCTACCTGCAAGGTGAAGGAAGGCATCCCTTTTGGGGCATGCACTTTCTTTCCTTTCTCAAAATAATGTTATATGTGGCCACACTGAT
GTTCACCTTTACGTCCAGGGTCTTTGTGCCTTGTCTCTACTCCCTCTCTTGGATCTGGGGAGGAGGGGCAGAGACCTGGGACTCTGTATT
TCTATAGTTCTCCTGGCAGAGCCTTTGAGAATGGGGAGAAACAGCCTGGGCTGGGGCTACAGGTCTGTCACTATGCTCTCTTGCCTTCAG
ACAGACCATTCTGAATTCTCTAAAGGGAAAGGGCTTTTGCATCTAATCACAATAGAGTTGAAAGAGAGGCCTTAGGATTCTCCTCTCTCT
AGGTGCTGAGCCCTCACCTCCCTGTTCCAGGCTGAGAACTCAAATGGTTACCCTGCTTCTTCCTACAATGCTGTGTGATATGGGTGAACC
CAGCCCCTGACCTTCCTCTATCCCCTGCCCATCCTCCCTTTTACCTCCTCTCTTTTTTAAACACCTGTTTATCCCAACCTTTTTGAGCTC
AAGCTGTGATAAAGAAGGGCCCATCCTATTTCCCCTCATCTAGTCCATTTACGATTCTCACTGACTCCCCGTCTTCCTGGCAGACACAAA
TAAACCCAGTGTCAGGTCTAGGAAATTAATGGCTATTCTTCCCCAGATACATTCTGGCTTATTTGAGATACATGATTCTCTTAGAATCCT
GTCCCTTGGTTCAGGAAAGTAGCTTGGAAAAGGAGTAGGGGTATAGCTTGGGTCCCTTTTCCTGCAAGGCCCCATGGGGCAGAATATAAT
AAATATTCTGAGTGAGGAGTGTGGTCTTTTTCTGATCTTCCTCAGCTTCCGTAAGTTGCAGAGTGAGGTATATTAGGAGACTAGTTCTAC
ACAATATTGTAATGCTGGGTTCCATCAACACCCACCTTCCACAACTCAGTCTGCACCTCAGTTGGCAAAGGAGACTGGATGGCCATCTTT
CCTCATGTTCCCTTGAGTATTTCAATGTAGAAAGCCCTTCAAGTGGTATTATATTTTAACCTTTTACATTATTGTTATTAATGTTAGTAA
TATATTGTTATGTTTTCTAAATTATTTTTCTTTAAGCTGACGTGGCTTTTTTTCTGTGGCTCCCAGTGGGTCTACGGACCTTGGCTGACA
TATGTTGGTAGGTACTCTGGTCAGCTCAGCTGGCTGTCCTGGTTCACTCAGAAGATAAGTCTCTCCAAAGCAAATTCACATGCATTATGA
GTCGCTTTGAGCTTCTGACATGTCACTTGCCCCGAGGTTAAAACTTTTCACCCCTTGAAGACCTTACATGTTTTATGGTATTGGTGAGGA
AGGAAATGTTCTCAAGGTCTCAGGCTATTTGGGAAATTCCAACTCCTATACCTTACCAGAGCATGGAAGAGCCCAGATCTGAATGTAAAA
CGTCTCTGTTCTGCCAGAGATGGAAAAAATACAGGTATACTTGTGATATAGTCATGGGGCTTCAGTGTCACTATTTTCTCCTTAAAGCTC
CAGCCAAAAACTGGACAAGGATAGAGAGGAGGAGGGAAGAACAAAAGAGCCCTTCTCTATGAACCTTGTGCCTTCTGTCCTACCAGTTTT
CTTTTACAGATTCTCACTTCTGCTAGCCTAGCCAGGGCTTACTCCAGGAATCTAAATAGATGCCCTAGTCCACTTTATCTTTGTTCCCAA
GGCACTCATTTTTATTTTGATTTTGATTGAATGTGAGCAGGTTGACCTCAGGTCACACTTTGTTCCAAAAACTTTTGGAATTATTCCAGG
ACTTGTGGTGGAGTTATGGTACTCTAGGGCAGTCTTTCTCAAACTATGTATGGTAAAGGACCAGGTTTTTTGTTTTCCAGTCCTTCACTT
ATCAATATGCATTCCTATTGCCCATGACAGGTATGGAGTTCACACTGTGTGCTGCCGACCCGGCAAGTTTGACAGCACCCAAACTGGCCA
GACTGTTCTGTAGGTTAAGTCCATTGATCATGTACTTGGATATCACAGCAACATTGAAATGCTAAAAAGTTTTTAAACACTCTCAATTTC
TAATTCACCATGTCACAGACTGGTGAAAAAAAAAAAAAGGTGTTCACTGACCAGCACAAGTCTGCAGATCATCTTTGAGTAGCACTGTTT
TGGGGCCCTCGGTCTCTCTGAAGACCCTAGCAGAACTGATACCTACCTGTATCTCTTGTTCTCTCCTATTTGAGTTTCACTTCCAGAGAA
CTTGTTCTTCAGCAAGAATGTGTCACTAGTAAGGACATCTCTAGCATTTCTCTAGCCTTCCTTTTCTGCTGCTCAAAAATAATCGTTACA
AAGCTTAGGTTTAAGCTGTATATGAAATATTTATGCGACTCTCAAACTTTAAAGGAGTTGCTCCTTTGTTCCAAAATTAAATGTGTTAGA

>In-frame_ENST00000295598_ENST00000368072_TCGA-EE-A29D-06A_ATP1A1_chr1_116930113_+_PEX19_chr1_160251990_length(amino acids)=289AA_start in transcript=237_stop in transcript=1106
MSTATMGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPT
TPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNNSSMSEEELTKAMEGLGMDEGDGEGNILPIMQSIMQNLLSKDVLYP
SLKEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDSETTQKARFEMVLDLMQQLQDLGHPPKELAGEMPPGLNFDL

--------------------------------------------------------------
>In-frame_ENST00000295598_ENST00000440949_TCGA-EE-A29D-06A_ATP1A1_chr1_116930113_+_PEX19_chr1_160251990_length(transcript)=2177nt_BP=639nt
CTGGGGCGCAGAGCAGCGGCGGGAGGAGGCGGACACGTGGCAACAGCGGTAGCAGCCCGGGCGGCGGCAGCAACAGCGGCGGCGGCATCG
GCCCGAGCCGCCGGCCGCCCTCCCACCCTCCCGCCCCGCGGCAGCCCTAGCTCCCTCCACTTGGCTCCCCTGGTCCCGCTCGCTCGGCCG
GGAGCTGCTCTGTGCTTTTCTCTCTGATTCTCCAGCGACAGGACCCGGCGCCGGGCACTGAGCACCGCCACCATGGGGAAGGGGGTTGGA
CGTGATAAGTATGAGCCTGCAGCTGTTTCAGAACAAGGTGATAAAAAGGGCAAAAAGGGCAAAAAAGACAGGGACATGGATGAACTGAAG
AAAGAAGTTTCTATGGATGATCATAAACTTAGCCTTGATGAACTTCATCGTAAATATGGAACAGACTTGAGCCGGGGATTAACATCTGCT
CGTGCAGCTGAGATCCTGGCGCGAGATGGTCCCAACGCCCTCACTCCCCCTCCCACTACTCCTGAATGGATCAAGTTTTGTCGGCAGCTC
TTTGGGGGGTTCTCAATGTTACTGTGGATTGGAGCGATTCTTTGTTTCTTGGCTTATAGCATCCAAGCTGCTACAGAAGAGGAACCTCAA
AACGATAATAACTCCAGCATGTCGGAAGAAGAGCTGACCAAGGCCATGGAGGGGCTAGGCATGGACGAAGGGGATGGGGAAGGGAACATC
CTCCCCATCATGCAGAGTATTATGCAGAACCTACTCTCCAAGGATGTGCTGTACCCATCACTGAAGGAGATCACAGAAAAGTATCCAGAA
TGGTTGCAGAGTCATCGGGAATCTCTACCTCCAGAGCAGTTTGAAAAATATCAGGAGCAGCACAGCGTCATGTGCAAAATATGTGAGCAG
TTTGAGGCAGAGACCCCCACAGACAGTGAAACCACTCAAAAGGCTCGTTTTGAGATGGTGCTGGATCTTATGCAGCAGCTACAAGATTTA
GGCCATCCTCCAAAAGAGCTGGCTGGAGAGATGCCTCCTGGCCTCAACTTTGACCTGGATGCCCTCAATCTTTCGGGCCCACCAGGTGCC
AGTGGTGAACAGTGTCTGATCATGTGAAACACAACACGTTTTCCTCTCTGAGTCCCAGCTATGGGGAACATCTGGAGTCAGCAGAACCAT
TGGGACCTGAGGCAGGAGTGTCACCTGCGGGAGAAGTCTGCCCGCTGCCCTCTGTCATCCCATTCAAGATTGTGCCATACCAGCTGAGGT
TTTTCCTCTGTCTCTCTAGGAATAGGGTCTGTTTCACAGGCCATTTCTGTGAACCCTACTCCATTGTGGTTTCTGCCACTATCAAAGTTC
CAGCTACCTGCAAGGTGAAGGAAGGCATCCCTTTTGGGGCATGCACTTTCTTTCCTTTCTCAAAATAATGTTATATGTGGCCACACTGAT
GTTCACCTTTACGTCCAGGGTCTTTGTGCCTTGTCTCTACTCCCTCTCTTGGATCTGGGGAGGAGGGGCAGAGACCTGGGACTCTGTATT
TCTATAGTTCTCCTGGCAGAGCCTTTGAGAATGGGGAGAAACAGCCTGGGCTGGGGCTACAGGTCTGTCACTATGCTCTCTTGCCTTCAG
ACAGACCATTCTGAATTCTCTAAAGGGAAAGGGCTTTTGCATCTAATCACAATAGAGTTGAAAGAGAGGCCTTAGGATTCTCCTCTCTCT
AGGTGCTGAGCCCTCACCTCCCTGTTCCAGGCTGAGAACTCAAATGGTTACCCTGCTTCTTCCTACAATGCTGTGTGATATGGGTGAACC
CAGCCCCTGACCTTCCTCTATCCCCTGCCCATCCTCCCTTTTACCTCCTCTCTTTTTTAAACACCTGTTTATCCCAACCTTTTTGAGCTC
AAGCTGTGATAAAGAAGGGCCCATCCTATTTCCCCTCATCTAGTCCATTTACGATTCTCACTGACTCCCCGTCTTCCTGGCAGACACAAA
TAAACCCAGTGTCAGGTCTAGGAAATTAATGGCTATTCTTCCCCAGATACATTCTGGCTTATTTGAGATACATGATTCTCTTAGAATCCT
GTCCCTTGGTTCAGGAAAGTAGCTTGGAAAAGGAGTAGGGGTATAGCTTGGGTCCCTTTTCCTGCAAGGCCCCATGGGGCAGAATATAAT

>In-frame_ENST00000295598_ENST00000440949_TCGA-EE-A29D-06A_ATP1A1_chr1_116930113_+_PEX19_chr1_160251990_length(amino acids)=289AA_start in transcript=237_stop in transcript=1106
MSTATMGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPT
TPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNNSSMSEEELTKAMEGLGMDEGDGEGNILPIMQSIMQNLLSKDVLYP
SLKEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDSETTQKARFEMVLDLMQQLQDLGHPPKELAGEMPPGLNFDL

--------------------------------------------------------------
>In-frame_ENST00000537345_ENST00000368072_TCGA-EE-A29D-06A_ATP1A1_chr1_116930113_+_PEX19_chr1_160251990_length(transcript)=3957nt_BP=750nt
AGCAGCGGGGGCGGCCCCGGGACTGAGCCGGCATCCCTGAGCCTGGCTCCCCTCCCTGCGACCGCCGTCACCTCCTTCTCCTTCCTTTTC
CCTCCGCCCTCCGTGCCCTGAGGAAAGGCGCGCTCCTCCCCTTCCCCTGGGGCGCTCCGCCGGGGCCTCCTCCCGGGCCTCCGTTCCCGC
CGCGGCCCCGGTTCCGGCGGGGGCAGCCTCCGGGTTCGGGGCTCCTTCTCCTGGGGACGCTGGGGCTTAGCTTGCTCCGCGCAGAGGCGG
CCGCCCTCCCCCAAAGAAAAAACTGGCTGCTTCTAAGTGCGAAGCCGGCTGGGCGGGCTGGTGCCAGAAAGGGTGTGTCTTCACTGCCCT
AAGATGGCCTTTAAGGTTGGACGTGATAAGTATGAGCCTGCAGCTGTTTCAGAACAAGGTGATAAAAAGGGCAAAAAGGGCAAAAAAGAC
AGGGACATGGATGAACTGAAGAAAGAAGTTTCTATGGATGATCATAAACTTAGCCTTGATGAACTTCATCGTAAATATGGAACAGACTTG
AGCCGGGGATTAACATCTGCTCGTGCAGCTGAGATCCTGGCGCGAGATGGTCCCAACGCCCTCACTCCCCCTCCCACTACTCCTGAATGG
ATCAAGTTTTGTCGGCAGCTCTTTGGGGGGTTCTCAATGTTACTGTGGATTGGAGCGATTCTTTGTTTCTTGGCTTATAGCATCCAAGCT
GCTACAGAAGAGGAACCTCAAAACGATAATAACTCCAGCATGTCGGAAGAAGAGCTGACCAAGGCCATGGAGGGGCTAGGCATGGACGAA
GGGGATGGGGAAGGGAACATCCTCCCCATCATGCAGAGTATTATGCAGAACCTACTCTCCAAGGATGTGCTGTACCCATCACTGAAGGAG
ATCACAGAAAAGTATCCAGAATGGTTGCAGAGTCATCGGGAATCTCTACCTCCAGAGCAGTTTGAAAAATATCAGGAGCAGCACAGCGTC
ATGTGCAAAATATGTGAGCAGTTTGAGGCAGAGACCCCCACAGACAGTGAAACCACTCAAAAGGCTCGTTTTGAGATGGTGCTGGATCTT
ATGCAGCAGCTACAAGATTTAGGCCATCCTCCAAAAGAGCTGGCTGGAGAGATGCCTCCTGGCCTCAACTTTGACCTGGATGCCCTCAAT
CTTTCGGGCCCACCAGGTGCCAGTGGTGAACAGTGTCTGATCATGTGAAACACAACACGTTTTCCTCTCTGAGTCCCAGCTATGGGGAAC
ATCTGGAGTCAGCAGAACCATTGGGACCTGAGGCAGGAGTGTCACCTGCGGGAGAAGTCTGCCCGCTGCCCTCTGTCATCCCATTCAAGA
TTGTGCCATACCAGCTGAGGTTTTTCCTCTGTCTCTCTAGGAATAGGGTCTGTTTCACAGGCCATTTCTGTGAACCCTACTCCATTGTGG
TTTCTGCCACTATCAAAGTTCCAGCTACCTGCAAGGTGAAGGAAGGCATCCCTTTTGGGGCATGCACTTTCTTTCCTTTCTCAAAATAAT
GTTATATGTGGCCACACTGATGTTCACCTTTACGTCCAGGGTCTTTGTGCCTTGTCTCTACTCCCTCTCTTGGATCTGGGGAGGAGGGGC
AGAGACCTGGGACTCTGTATTTCTATAGTTCTCCTGGCAGAGCCTTTGAGAATGGGGAGAAACAGCCTGGGCTGGGGCTACAGGTCTGTC
ACTATGCTCTCTTGCCTTCAGACAGACCATTCTGAATTCTCTAAAGGGAAAGGGCTTTTGCATCTAATCACAATAGAGTTGAAAGAGAGG
CCTTAGGATTCTCCTCTCTCTAGGTGCTGAGCCCTCACCTCCCTGTTCCAGGCTGAGAACTCAAATGGTTACCCTGCTTCTTCCTACAAT
GCTGTGTGATATGGGTGAACCCAGCCCCTGACCTTCCTCTATCCCCTGCCCATCCTCCCTTTTACCTCCTCTCTTTTTTAAACACCTGTT
TATCCCAACCTTTTTGAGCTCAAGCTGTGATAAAGAAGGGCCCATCCTATTTCCCCTCATCTAGTCCATTTACGATTCTCACTGACTCCC
CGTCTTCCTGGCAGACACAAATAAACCCAGTGTCAGGTCTAGGAAATTAATGGCTATTCTTCCCCAGATACATTCTGGCTTATTTGAGAT
ACATGATTCTCTTAGAATCCTGTCCCTTGGTTCAGGAAAGTAGCTTGGAAAAGGAGTAGGGGTATAGCTTGGGTCCCTTTTCCTGCAAGG
CCCCATGGGGCAGAATATAATAAATATTCTGAGTGAGGAGTGTGGTCTTTTTCTGATCTTCCTCAGCTTCCGTAAGTTGCAGAGTGAGGT
ATATTAGGAGACTAGTTCTACACAATATTGTAATGCTGGGTTCCATCAACACCCACCTTCCACAACTCAGTCTGCACCTCAGTTGGCAAA
GGAGACTGGATGGCCATCTTTCCTCATGTTCCCTTGAGTATTTCAATGTAGAAAGCCCTTCAAGTGGTATTATATTTTAACCTTTTACAT
TATTGTTATTAATGTTAGTAATATATTGTTATGTTTTCTAAATTATTTTTCTTTAAGCTGACGTGGCTTTTTTTCTGTGGCTCCCAGTGG
GTCTACGGACCTTGGCTGACATATGTTGGTAGGTACTCTGGTCAGCTCAGCTGGCTGTCCTGGTTCACTCAGAAGATAAGTCTCTCCAAA
GCAAATTCACATGCATTATGAGTCGCTTTGAGCTTCTGACATGTCACTTGCCCCGAGGTTAAAACTTTTCACCCCTTGAAGACCTTACAT
GTTTTATGGTATTGGTGAGGAAGGAAATGTTCTCAAGGTCTCAGGCTATTTGGGAAATTCCAACTCCTATACCTTACCAGAGCATGGAAG
AGCCCAGATCTGAATGTAAAACGTCTCTGTTCTGCCAGAGATGGAAAAAATACAGGTATACTTGTGATATAGTCATGGGGCTTCAGTGTC
ACTATTTTCTCCTTAAAGCTCCAGCCAAAAACTGGACAAGGATAGAGAGGAGGAGGGAAGAACAAAAGAGCCCTTCTCTATGAACCTTGT
GCCTTCTGTCCTACCAGTTTTCTTTTACAGATTCTCACTTCTGCTAGCCTAGCCAGGGCTTACTCCAGGAATCTAAATAGATGCCCTAGT
CCACTTTATCTTTGTTCCCAAGGCACTCATTTTTATTTTGATTTTGATTGAATGTGAGCAGGTTGACCTCAGGTCACACTTTGTTCCAAA
AACTTTTGGAATTATTCCAGGACTTGTGGTGGAGTTATGGTACTCTAGGGCAGTCTTTCTCAAACTATGTATGGTAAAGGACCAGGTTTT
TTGTTTTCCAGTCCTTCACTTATCAATATGCATTCCTATTGCCCATGACAGGTATGGAGTTCACACTGTGTGCTGCCGACCCGGCAAGTT
TGACAGCACCCAAACTGGCCAGACTGTTCTGTAGGTTAAGTCCATTGATCATGTACTTGGATATCACAGCAACATTGAAATGCTAAAAAG
TTTTTAAACACTCTCAATTTCTAATTCACCATGTCACAGACTGGTGAAAAAAAAAAAAAGGTGTTCACTGACCAGCACAAGTCTGCAGAT
CATCTTTGAGTAGCACTGTTTTGGGGCCCTCGGTCTCTCTGAAGACCCTAGCAGAACTGATACCTACCTGTATCTCTTGTTCTCTCCTAT
TTGAGTTTCACTTCCAGAGAACTTGTTCTTCAGCAAGAATGTGTCACTAGTAAGGACATCTCTAGCATTTCTCTAGCCTTCCTTTTCTGC
TGCTCAAAAATAATCGTTACAAAGCTTAGGTTTAAGCTGTATATGAAATATTTATGCGACTCTCAAACTTTAAAGGAGTTGCTCCTTTGT

>In-frame_ENST00000537345_ENST00000368072_TCGA-EE-A29D-06A_ATP1A1_chr1_116930113_+_PEX19_chr1_160251990_length(amino acids)=299AA_start in transcript=318_stop in transcript=1217
MGGLVPERVCLHCPKMAFKVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARD
GPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNNSSMSEEELTKAMEGLGMDEGDGEGNILPIMQSIMQ
NLLSKDVLYPSLKEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDSETTQKARFEMVLDLMQQLQDLGHPPKELAG

--------------------------------------------------------------
>In-frame_ENST00000537345_ENST00000440949_TCGA-EE-A29D-06A_ATP1A1_chr1_116930113_+_PEX19_chr1_160251990_length(transcript)=2288nt_BP=750nt
AGCAGCGGGGGCGGCCCCGGGACTGAGCCGGCATCCCTGAGCCTGGCTCCCCTCCCTGCGACCGCCGTCACCTCCTTCTCCTTCCTTTTC
CCTCCGCCCTCCGTGCCCTGAGGAAAGGCGCGCTCCTCCCCTTCCCCTGGGGCGCTCCGCCGGGGCCTCCTCCCGGGCCTCCGTTCCCGC
CGCGGCCCCGGTTCCGGCGGGGGCAGCCTCCGGGTTCGGGGCTCCTTCTCCTGGGGACGCTGGGGCTTAGCTTGCTCCGCGCAGAGGCGG
CCGCCCTCCCCCAAAGAAAAAACTGGCTGCTTCTAAGTGCGAAGCCGGCTGGGCGGGCTGGTGCCAGAAAGGGTGTGTCTTCACTGCCCT
AAGATGGCCTTTAAGGTTGGACGTGATAAGTATGAGCCTGCAGCTGTTTCAGAACAAGGTGATAAAAAGGGCAAAAAGGGCAAAAAAGAC
AGGGACATGGATGAACTGAAGAAAGAAGTTTCTATGGATGATCATAAACTTAGCCTTGATGAACTTCATCGTAAATATGGAACAGACTTG
AGCCGGGGATTAACATCTGCTCGTGCAGCTGAGATCCTGGCGCGAGATGGTCCCAACGCCCTCACTCCCCCTCCCACTACTCCTGAATGG
ATCAAGTTTTGTCGGCAGCTCTTTGGGGGGTTCTCAATGTTACTGTGGATTGGAGCGATTCTTTGTTTCTTGGCTTATAGCATCCAAGCT
GCTACAGAAGAGGAACCTCAAAACGATAATAACTCCAGCATGTCGGAAGAAGAGCTGACCAAGGCCATGGAGGGGCTAGGCATGGACGAA
GGGGATGGGGAAGGGAACATCCTCCCCATCATGCAGAGTATTATGCAGAACCTACTCTCCAAGGATGTGCTGTACCCATCACTGAAGGAG
ATCACAGAAAAGTATCCAGAATGGTTGCAGAGTCATCGGGAATCTCTACCTCCAGAGCAGTTTGAAAAATATCAGGAGCAGCACAGCGTC
ATGTGCAAAATATGTGAGCAGTTTGAGGCAGAGACCCCCACAGACAGTGAAACCACTCAAAAGGCTCGTTTTGAGATGGTGCTGGATCTT
ATGCAGCAGCTACAAGATTTAGGCCATCCTCCAAAAGAGCTGGCTGGAGAGATGCCTCCTGGCCTCAACTTTGACCTGGATGCCCTCAAT
CTTTCGGGCCCACCAGGTGCCAGTGGTGAACAGTGTCTGATCATGTGAAACACAACACGTTTTCCTCTCTGAGTCCCAGCTATGGGGAAC
ATCTGGAGTCAGCAGAACCATTGGGACCTGAGGCAGGAGTGTCACCTGCGGGAGAAGTCTGCCCGCTGCCCTCTGTCATCCCATTCAAGA
TTGTGCCATACCAGCTGAGGTTTTTCCTCTGTCTCTCTAGGAATAGGGTCTGTTTCACAGGCCATTTCTGTGAACCCTACTCCATTGTGG
TTTCTGCCACTATCAAAGTTCCAGCTACCTGCAAGGTGAAGGAAGGCATCCCTTTTGGGGCATGCACTTTCTTTCCTTTCTCAAAATAAT
GTTATATGTGGCCACACTGATGTTCACCTTTACGTCCAGGGTCTTTGTGCCTTGTCTCTACTCCCTCTCTTGGATCTGGGGAGGAGGGGC
AGAGACCTGGGACTCTGTATTTCTATAGTTCTCCTGGCAGAGCCTTTGAGAATGGGGAGAAACAGCCTGGGCTGGGGCTACAGGTCTGTC
ACTATGCTCTCTTGCCTTCAGACAGACCATTCTGAATTCTCTAAAGGGAAAGGGCTTTTGCATCTAATCACAATAGAGTTGAAAGAGAGG
CCTTAGGATTCTCCTCTCTCTAGGTGCTGAGCCCTCACCTCCCTGTTCCAGGCTGAGAACTCAAATGGTTACCCTGCTTCTTCCTACAAT
GCTGTGTGATATGGGTGAACCCAGCCCCTGACCTTCCTCTATCCCCTGCCCATCCTCCCTTTTACCTCCTCTCTTTTTTAAACACCTGTT
TATCCCAACCTTTTTGAGCTCAAGCTGTGATAAAGAAGGGCCCATCCTATTTCCCCTCATCTAGTCCATTTACGATTCTCACTGACTCCC
CGTCTTCCTGGCAGACACAAATAAACCCAGTGTCAGGTCTAGGAAATTAATGGCTATTCTTCCCCAGATACATTCTGGCTTATTTGAGAT
ACATGATTCTCTTAGAATCCTGTCCCTTGGTTCAGGAAAGTAGCTTGGAAAAGGAGTAGGGGTATAGCTTGGGTCCCTTTTCCTGCAAGG

>In-frame_ENST00000537345_ENST00000440949_TCGA-EE-A29D-06A_ATP1A1_chr1_116930113_+_PEX19_chr1_160251990_length(amino acids)=299AA_start in transcript=318_stop in transcript=1217
MGGLVPERVCLHCPKMAFKVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARD
GPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNNSSMSEEELTKAMEGLGMDEGDGEGNILPIMQSIMQ
NLLSKDVLYPSLKEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDSETTQKARFEMVLDLMQQLQDLGHPPKELAG

--------------------------------------------------------------
>In-frame_ENST00000369496_ENST00000368072_TCGA-EE-A29D-06A_ATP1A1_chr1_116930113_+_PEX19_chr1_160251990_length(transcript)=3766nt_BP=559nt
GATATGTAATAATGTCTTTGCAAAGCAAAGAATATAAACAGTATAAAAGTACTAGCATTTAGATGTATTGTATCATTTAATCCTTAAAAA
CATGAAATGAGGTTGGCACTATTCTTTATCTCCACGCTGTGGAAGAGGAAATTGAAATGTAGAAGTTAGTAACTTGCCTAAGGATACACT
GCTGGTTGGACGTGATAAGTATGAGCCTGCAGCTGTTTCAGAACAAGGTGATAAAAAGGGCAAAAAGGGCAAAAAAGACAGGGACATGGA
TGAACTGAAGAAAGAAGTTTCTATGGATGATCATAAACTTAGCCTTGATGAACTTCATCGTAAATATGGAACAGACTTGAGCCGGGGATT
AACATCTGCTCGTGCAGCTGAGATCCTGGCGCGAGATGGTCCCAACGCCCTCACTCCCCCTCCCACTACTCCTGAATGGATCAAGTTTTG
TCGGCAGCTCTTTGGGGGGTTCTCAATGTTACTGTGGATTGGAGCGATTCTTTGTTTCTTGGCTTATAGCATCCAAGCTGCTACAGAAGA
GGAACCTCAAAACGATAATAACTCCAGCATGTCGGAAGAAGAGCTGACCAAGGCCATGGAGGGGCTAGGCATGGACGAAGGGGATGGGGA
AGGGAACATCCTCCCCATCATGCAGAGTATTATGCAGAACCTACTCTCCAAGGATGTGCTGTACCCATCACTGAAGGAGATCACAGAAAA
GTATCCAGAATGGTTGCAGAGTCATCGGGAATCTCTACCTCCAGAGCAGTTTGAAAAATATCAGGAGCAGCACAGCGTCATGTGCAAAAT
ATGTGAGCAGTTTGAGGCAGAGACCCCCACAGACAGTGAAACCACTCAAAAGGCTCGTTTTGAGATGGTGCTGGATCTTATGCAGCAGCT
ACAAGATTTAGGCCATCCTCCAAAAGAGCTGGCTGGAGAGATGCCTCCTGGCCTCAACTTTGACCTGGATGCCCTCAATCTTTCGGGCCC
ACCAGGTGCCAGTGGTGAACAGTGTCTGATCATGTGAAACACAACACGTTTTCCTCTCTGAGTCCCAGCTATGGGGAACATCTGGAGTCA
GCAGAACCATTGGGACCTGAGGCAGGAGTGTCACCTGCGGGAGAAGTCTGCCCGCTGCCCTCTGTCATCCCATTCAAGATTGTGCCATAC
CAGCTGAGGTTTTTCCTCTGTCTCTCTAGGAATAGGGTCTGTTTCACAGGCCATTTCTGTGAACCCTACTCCATTGTGGTTTCTGCCACT
ATCAAAGTTCCAGCTACCTGCAAGGTGAAGGAAGGCATCCCTTTTGGGGCATGCACTTTCTTTCCTTTCTCAAAATAATGTTATATGTGG
CCACACTGATGTTCACCTTTACGTCCAGGGTCTTTGTGCCTTGTCTCTACTCCCTCTCTTGGATCTGGGGAGGAGGGGCAGAGACCTGGG
ACTCTGTATTTCTATAGTTCTCCTGGCAGAGCCTTTGAGAATGGGGAGAAACAGCCTGGGCTGGGGCTACAGGTCTGTCACTATGCTCTC
TTGCCTTCAGACAGACCATTCTGAATTCTCTAAAGGGAAAGGGCTTTTGCATCTAATCACAATAGAGTTGAAAGAGAGGCCTTAGGATTC
TCCTCTCTCTAGGTGCTGAGCCCTCACCTCCCTGTTCCAGGCTGAGAACTCAAATGGTTACCCTGCTTCTTCCTACAATGCTGTGTGATA
TGGGTGAACCCAGCCCCTGACCTTCCTCTATCCCCTGCCCATCCTCCCTTTTACCTCCTCTCTTTTTTAAACACCTGTTTATCCCAACCT
TTTTGAGCTCAAGCTGTGATAAAGAAGGGCCCATCCTATTTCCCCTCATCTAGTCCATTTACGATTCTCACTGACTCCCCGTCTTCCTGG
CAGACACAAATAAACCCAGTGTCAGGTCTAGGAAATTAATGGCTATTCTTCCCCAGATACATTCTGGCTTATTTGAGATACATGATTCTC
TTAGAATCCTGTCCCTTGGTTCAGGAAAGTAGCTTGGAAAAGGAGTAGGGGTATAGCTTGGGTCCCTTTTCCTGCAAGGCCCCATGGGGC
AGAATATAATAAATATTCTGAGTGAGGAGTGTGGTCTTTTTCTGATCTTCCTCAGCTTCCGTAAGTTGCAGAGTGAGGTATATTAGGAGA
CTAGTTCTACACAATATTGTAATGCTGGGTTCCATCAACACCCACCTTCCACAACTCAGTCTGCACCTCAGTTGGCAAAGGAGACTGGAT
GGCCATCTTTCCTCATGTTCCCTTGAGTATTTCAATGTAGAAAGCCCTTCAAGTGGTATTATATTTTAACCTTTTACATTATTGTTATTA
ATGTTAGTAATATATTGTTATGTTTTCTAAATTATTTTTCTTTAAGCTGACGTGGCTTTTTTTCTGTGGCTCCCAGTGGGTCTACGGACC
TTGGCTGACATATGTTGGTAGGTACTCTGGTCAGCTCAGCTGGCTGTCCTGGTTCACTCAGAAGATAAGTCTCTCCAAAGCAAATTCACA
TGCATTATGAGTCGCTTTGAGCTTCTGACATGTCACTTGCCCCGAGGTTAAAACTTTTCACCCCTTGAAGACCTTACATGTTTTATGGTA
TTGGTGAGGAAGGAAATGTTCTCAAGGTCTCAGGCTATTTGGGAAATTCCAACTCCTATACCTTACCAGAGCATGGAAGAGCCCAGATCT
GAATGTAAAACGTCTCTGTTCTGCCAGAGATGGAAAAAATACAGGTATACTTGTGATATAGTCATGGGGCTTCAGTGTCACTATTTTCTC
CTTAAAGCTCCAGCCAAAAACTGGACAAGGATAGAGAGGAGGAGGGAAGAACAAAAGAGCCCTTCTCTATGAACCTTGTGCCTTCTGTCC
TACCAGTTTTCTTTTACAGATTCTCACTTCTGCTAGCCTAGCCAGGGCTTACTCCAGGAATCTAAATAGATGCCCTAGTCCACTTTATCT
TTGTTCCCAAGGCACTCATTTTTATTTTGATTTTGATTGAATGTGAGCAGGTTGACCTCAGGTCACACTTTGTTCCAAAAACTTTTGGAA
TTATTCCAGGACTTGTGGTGGAGTTATGGTACTCTAGGGCAGTCTTTCTCAAACTATGTATGGTAAAGGACCAGGTTTTTTGTTTTCCAG
TCCTTCACTTATCAATATGCATTCCTATTGCCCATGACAGGTATGGAGTTCACACTGTGTGCTGCCGACCCGGCAAGTTTGACAGCACCC
AAACTGGCCAGACTGTTCTGTAGGTTAAGTCCATTGATCATGTACTTGGATATCACAGCAACATTGAAATGCTAAAAAGTTTTTAAACAC
TCTCAATTTCTAATTCACCATGTCACAGACTGGTGAAAAAAAAAAAAAGGTGTTCACTGACCAGCACAAGTCTGCAGATCATCTTTGAGT
AGCACTGTTTTGGGGCCCTCGGTCTCTCTGAAGACCCTAGCAGAACTGATACCTACCTGTATCTCTTGTTCTCTCCTATTTGAGTTTCAC
TTCCAGAGAACTTGTTCTTCAGCAAGAATGTGTCACTAGTAAGGACATCTCTAGCATTTCTCTAGCCTTCCTTTTCTGCTGCTCAAAAAT
AATCGTTACAAAGCTTAGGTTTAAGCTGTATATGAAATATTTATGCGACTCTCAAACTTTAAAGGAGTTGCTCCTTTGTTCCAAAATTAA

>In-frame_ENST00000369496_ENST00000368072_TCGA-EE-A29D-06A_ATP1A1_chr1_116930113_+_PEX19_chr1_160251990_length(amino acids)=287AA_start in transcript=163_stop in transcript=1026
MPKDTLLVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPTTP
EWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNNSSMSEEELTKAMEGLGMDEGDGEGNILPIMQSIMQNLLSKDVLYPSL
KEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDSETTQKARFEMVLDLMQQLQDLGHPPKELAGEMPPGLNFDLDA

--------------------------------------------------------------
>In-frame_ENST00000369496_ENST00000440949_TCGA-EE-A29D-06A_ATP1A1_chr1_116930113_+_PEX19_chr1_160251990_length(transcript)=2097nt_BP=559nt
GATATGTAATAATGTCTTTGCAAAGCAAAGAATATAAACAGTATAAAAGTACTAGCATTTAGATGTATTGTATCATTTAATCCTTAAAAA
CATGAAATGAGGTTGGCACTATTCTTTATCTCCACGCTGTGGAAGAGGAAATTGAAATGTAGAAGTTAGTAACTTGCCTAAGGATACACT
GCTGGTTGGACGTGATAAGTATGAGCCTGCAGCTGTTTCAGAACAAGGTGATAAAAAGGGCAAAAAGGGCAAAAAAGACAGGGACATGGA
TGAACTGAAGAAAGAAGTTTCTATGGATGATCATAAACTTAGCCTTGATGAACTTCATCGTAAATATGGAACAGACTTGAGCCGGGGATT
AACATCTGCTCGTGCAGCTGAGATCCTGGCGCGAGATGGTCCCAACGCCCTCACTCCCCCTCCCACTACTCCTGAATGGATCAAGTTTTG
TCGGCAGCTCTTTGGGGGGTTCTCAATGTTACTGTGGATTGGAGCGATTCTTTGTTTCTTGGCTTATAGCATCCAAGCTGCTACAGAAGA
GGAACCTCAAAACGATAATAACTCCAGCATGTCGGAAGAAGAGCTGACCAAGGCCATGGAGGGGCTAGGCATGGACGAAGGGGATGGGGA
AGGGAACATCCTCCCCATCATGCAGAGTATTATGCAGAACCTACTCTCCAAGGATGTGCTGTACCCATCACTGAAGGAGATCACAGAAAA
GTATCCAGAATGGTTGCAGAGTCATCGGGAATCTCTACCTCCAGAGCAGTTTGAAAAATATCAGGAGCAGCACAGCGTCATGTGCAAAAT
ATGTGAGCAGTTTGAGGCAGAGACCCCCACAGACAGTGAAACCACTCAAAAGGCTCGTTTTGAGATGGTGCTGGATCTTATGCAGCAGCT
ACAAGATTTAGGCCATCCTCCAAAAGAGCTGGCTGGAGAGATGCCTCCTGGCCTCAACTTTGACCTGGATGCCCTCAATCTTTCGGGCCC
ACCAGGTGCCAGTGGTGAACAGTGTCTGATCATGTGAAACACAACACGTTTTCCTCTCTGAGTCCCAGCTATGGGGAACATCTGGAGTCA
GCAGAACCATTGGGACCTGAGGCAGGAGTGTCACCTGCGGGAGAAGTCTGCCCGCTGCCCTCTGTCATCCCATTCAAGATTGTGCCATAC
CAGCTGAGGTTTTTCCTCTGTCTCTCTAGGAATAGGGTCTGTTTCACAGGCCATTTCTGTGAACCCTACTCCATTGTGGTTTCTGCCACT
ATCAAAGTTCCAGCTACCTGCAAGGTGAAGGAAGGCATCCCTTTTGGGGCATGCACTTTCTTTCCTTTCTCAAAATAATGTTATATGTGG
CCACACTGATGTTCACCTTTACGTCCAGGGTCTTTGTGCCTTGTCTCTACTCCCTCTCTTGGATCTGGGGAGGAGGGGCAGAGACCTGGG
ACTCTGTATTTCTATAGTTCTCCTGGCAGAGCCTTTGAGAATGGGGAGAAACAGCCTGGGCTGGGGCTACAGGTCTGTCACTATGCTCTC
TTGCCTTCAGACAGACCATTCTGAATTCTCTAAAGGGAAAGGGCTTTTGCATCTAATCACAATAGAGTTGAAAGAGAGGCCTTAGGATTC
TCCTCTCTCTAGGTGCTGAGCCCTCACCTCCCTGTTCCAGGCTGAGAACTCAAATGGTTACCCTGCTTCTTCCTACAATGCTGTGTGATA
TGGGTGAACCCAGCCCCTGACCTTCCTCTATCCCCTGCCCATCCTCCCTTTTACCTCCTCTCTTTTTTAAACACCTGTTTATCCCAACCT
TTTTGAGCTCAAGCTGTGATAAAGAAGGGCCCATCCTATTTCCCCTCATCTAGTCCATTTACGATTCTCACTGACTCCCCGTCTTCCTGG
CAGACACAAATAAACCCAGTGTCAGGTCTAGGAAATTAATGGCTATTCTTCCCCAGATACATTCTGGCTTATTTGAGATACATGATTCTC
TTAGAATCCTGTCCCTTGGTTCAGGAAAGTAGCTTGGAAAAGGAGTAGGGGTATAGCTTGGGTCCCTTTTCCTGCAAGGCCCCATGGGGC

>In-frame_ENST00000369496_ENST00000440949_TCGA-EE-A29D-06A_ATP1A1_chr1_116930113_+_PEX19_chr1_160251990_length(amino acids)=287AA_start in transcript=163_stop in transcript=1026
MPKDTLLVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPTTP
EWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNNSSMSEEELTKAMEGLGMDEGDGEGNILPIMQSIMQNLLSKDVLYPSL
KEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDSETTQKARFEMVLDLMQQLQDLGHPPKELAGEMPPGLNFDLDA

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Fusion Gene PPI Analysis for ATP1A1-PEX19


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 ATP1A1-PEX19


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 ATP1A1-PEX19


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP1A1C0001430Adenoma2CTD_human
HgeneATP1A1C0205646Adenoma, Basal Cell2CTD_human
HgeneATP1A1C0205647Follicular adenoma2CTD_human
HgeneATP1A1C0205648Adenoma, Microcystic2CTD_human
HgeneATP1A1C0205649Adenoma, Monomorphic2CTD_human
HgeneATP1A1C0205650Papillary adenoma2CTD_human
HgeneATP1A1C0205651Adenoma, Trabecular2CTD_human
HgeneATP1A1C4747974CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD2GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneATP1A1C0005586Bipolar Disorder1PSYGENET
HgeneATP1A1C0017162Gastroenteritis, Transmissible, of Swine1CTD_human
HgeneATP1A1C0020428Hyperaldosteronism1CTD_human
HgeneATP1A1C0020538Hypertensive disease1CTD_human
HgeneATP1A1C0027051Myocardial Infarction1CTD_human
HgeneATP1A1C0027055Myocardial Reperfusion Injury1CTD_human
HgeneATP1A1C0036572Seizures1GENOMICS_ENGLAND
HgeneATP1A1C0042594Vestibular Diseases1CTD_human
HgeneATP1A1C0151723Hypomagnesemia1GENOMICS_ENGLAND
HgeneATP1A1C0151744Myocardial Ischemia1CTD_human
HgeneATP1A1C1384514Conn Syndrome1CTD_human
HgeneATP1A1C3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneATP1A1C4552839Hypomagnesemia, CTCAE1GENOMICS_ENGLAND
TgenePEX19C3554002PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)3CTD_human;GENOMICS_ENGLAND
TgenePEX19C1832200Peroxisome biogenesis disorders2CTD_human;GENOMICS_ENGLAND
TgenePEX19C0043459Zellweger Syndrome1CTD_human;GENOMICS_ENGLAND
TgenePEX19C0751594Zellweger-Like Syndrome1CTD_human
TgenePEX19C3658299Zellweger Spectrum1CTD_human