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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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Fusion gene ID: 25436

FusionGeneSummary for OPA1_PPP2R3A

check button Fusion gene summary
Fusion gene informationFusion gene name: OPA1_PPP2R3A
Fusion gene ID: 25436
HgeneTgene
Gene symbol

OPA1

PPP2R3A

Gene ID

9968

5523

Gene namemediator complex subunit 12protein phosphatase 2 regulatory subunit B''alpha
SynonymsARC240|CAGH45|FGS1|HOPA|MED12S|OHDOX|OKS|OPA1|TNRC11|TRAP230PPP2R3|PR130|PR72
Cytomap

Xq13.1

3q22.2-q22.3

Type of geneprotein-codingprotein-coding
Descriptionmediator of RNA polymerase II transcription subunit 12CAG repeat protein 45OPA-containing proteinactivator-recruited cofactor 240 kDa componenthuman opposite pairedmediator of RNA polymerase II transcription, subunit 12 homologputative mediator subuserine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alphaPP2A subunit B isoforms B72/B130PP2A, subunit B, R3 isoformPR130/B''alpha1 subunitPR72/B''alpha2 subuitprotein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), al
Modification date2018052720180523
UniProtAcc

O60313

Q06190

Ensembl transtripts involved in fusion geneENST00000361828, ENST00000361510, 
ENST00000361150, ENST00000361715, 
ENST00000361908, ENST00000392438, 
ENST00000487986, 
ENST00000264977, 
ENST00000490467, ENST00000334546, 
ENST00000492624, ENST00000469270, 
Fusion gene scores* DoF score4 X 3 X 3=366 X 3 X 4=72
# samples 46
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: OPA1 [Title/Abstract] AND PPP2R3A [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneOPA1

GO:0006367

transcription initiation from RNA polymerase II promoter

12218053

HgeneOPA1

GO:0030518

intracellular steroid hormone receptor signaling pathway

11867769

HgeneOPA1

GO:0030521

androgen receptor signaling pathway

12218053

HgeneOPA1

GO:0045893

positive regulation of transcription, DNA-templated

10198638

HgeneOPA1

GO:0045944

positive regulation of transcription by RNA polymerase II

12037571


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUSCTCGA-94-7943-01AOPA1chr3

193385069

+PPP2R3Achr3

135863885

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

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000361828ENST00000264977OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
In-frameENST00000361828ENST00000490467OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
Frame-shitENST00000361828ENST00000334546OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
5CDS-intronENST00000361828ENST00000492624OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
5CDS-intronENST00000361828ENST00000469270OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
Frame-shitENST00000361510ENST00000264977OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
In-frameENST00000361510ENST00000490467OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
Frame-shitENST00000361510ENST00000334546OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
5CDS-intronENST00000361510ENST00000492624OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
5CDS-intronENST00000361510ENST00000469270OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
Frame-shitENST00000361150ENST00000264977OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
In-frameENST00000361150ENST00000490467OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
Frame-shitENST00000361150ENST00000334546OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
5CDS-intronENST00000361150ENST00000492624OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
5CDS-intronENST00000361150ENST00000469270OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
Frame-shitENST00000361715ENST00000264977OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
In-frameENST00000361715ENST00000490467OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
Frame-shitENST00000361715ENST00000334546OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
5CDS-intronENST00000361715ENST00000492624OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
5CDS-intronENST00000361715ENST00000469270OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
Frame-shitENST00000361908ENST00000264977OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
In-frameENST00000361908ENST00000490467OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
Frame-shitENST00000361908ENST00000334546OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
5CDS-intronENST00000361908ENST00000492624OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
5CDS-intronENST00000361908ENST00000469270OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
Frame-shitENST00000392438ENST00000264977OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
In-frameENST00000392438ENST00000490467OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
Frame-shitENST00000392438ENST00000334546OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
5CDS-intronENST00000392438ENST00000492624OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
5CDS-intronENST00000392438ENST00000469270OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
intron-3CDSENST00000487986ENST00000264977OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
intron-3CDSENST00000487986ENST00000490467OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
intron-3CDSENST00000487986ENST00000334546OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
intron-intronENST00000487986ENST00000492624OPA1chr3

193385069

+PPP2R3Achr3

135863885

+
intron-intronENST00000487986ENST00000469270OPA1chr3

193385069

+PPP2R3Achr3

135863885

+

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FusionProtFeatures for OPA1_PPP2R3A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
OPA1

O60313

PPP2R3A

Q06190

Dynamin-related GTPase that is essential for normalmitochondrial morphology by regulating the equilibrium betweenmitochondrial fusion and mitochondrial fission (PubMed:16778770,PubMed:17709429, PubMed:20185555, PubMed:24616225,PubMed:28746876). Coexpression of isoform 1 with shorteralternative products is required for optimal activity in promotingmitochondrial fusion (PubMed:17709429). Binds lipid membranesenriched in negatively charged phospholipids, such as cardiolipin,and promotes membrane tubulation (PubMed:20185555). The intrinsicGTPase activity is low, and is strongly increased by interactionwith lipid membranes (PubMed:20185555). Plays a role in remodelingcristae and the release of cytochrome c during apoptosis (Bysimilarity). Proteolytic processing in response to intrinsicapoptotic signals may lead to disassembly of OPA1 oligomers andrelease of the caspase activator cytochrome C (CYCS) into themitochondrial intermembrane space (By similarity). Plays a role inmitochondrial genome maintenance (PubMed:20974897,PubMed:18158317). {ECO:0000250|UniProtKB:P58281,ECO:0000269|PubMed:16778770, ECO:0000269|PubMed:17709429,ECO:0000269|PubMed:18158317, ECO:0000269|PubMed:20185555,ECO:0000269|PubMed:20974897, ECO:0000269|PubMed:24616225,ECO:0000269|PubMed:28746876}. Dynamin-like 120 kDa protein, form S1: Inactive formproduced by cleavage at S1 position by OMA1 following stressconditions that induce loss of mitochondrial membrane potential,leading to negative regulation of mitochondrial fusion.{ECO:0000269|PubMed:20038677}. Isoforms that contain the alternative exon 4b (presentin isoform 4 and isoform 5) are required for mitochondrial genomemaintenance, possibly by anchoring the mitochondrial nucleoids tothe inner mitochondrial membrane. {ECO:0000269|PubMed:20974897}. The B regulatory subunit might modulate substrateselectivity and catalytic activity, and also might direct thelocalization of the catalytic enzyme to a particular subcellularcompartment.

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

download page

.

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

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


Top

FusionGeneSequence for OPA1_PPP2R3A


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

* Fusion amino acid sequences.
>In-frame_OPA1_ENST00000361828_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_998aa
MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSITHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKTGYQPRRNFWP
ARLATRLLKLRTLILGSAVGGGYTAKKTFDQWKDMIPDLSETKWIVPDIVWEIDETIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLK
DFFTSGHKLVSEVIGASDLLLLLGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKTQRILERLEKENKELRKLVLQKDD
KGIHHRKLKKSLIDMTSEVLDVLSDTDASTNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFK
DSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAI
ILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGTFAVVTGKGNSSESIEAIRETEEEF
FQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNTPRLRELDRNELFEKAKNEILDEVISLSQVT
PKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKE
AVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAITFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETK
NELEKMLKCNEEHPATLASDEITTVRKNLESRGVEVDPSLIKDTWHQVTRRHFLKTALNHCNLCRRGFTYYQRHFVDSELECNDVVLFWR
IQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLTLKIMKQMNLPLPLNLETKAIKT_VQAFQRNVE

>In-frame_OPA1_ENST00000361510_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_1035aa
MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSITHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKTGYQPRRNFWP
ARLATRLLKLRTLILGSAVGGGYTAKKTFDQWKDMIPDLSETKWIVPDIVWEIDETIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLK
DFFTSGHKLVSEVIGASDLLLLLGSPEETAFRATDRGSESDKHFRKGLLGELILLQQQIQEHEEEARRAAGQTSTSTAQQKRKVSDKEKI
DQLQEELLHTQLKTQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMTSEVLDVLSDTDASTNTQDHLPRVVVVGDQSAGKTSVL
EMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMV
LVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQI
IEGKLFPMKALGTFAVVTGKGNSSESIEAIRETEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLE
TEWKNNTPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQL
PNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAITFMEEALQAR
LKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPATLASDEITTVRKNLESRGVEVDPSLIKDTWHQVTRRHF
LKTALNHCNLCRRGFTYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQL

>In-frame_OPA1_ENST00000361150_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_981aa
MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSITHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKTGYQPRRNFWP
ARLATRLLKLRTLILGSAVGGGYTAKKTFDQWKDMIPDLSETKWIVPDIVWEIDETIDFGSPEETAFRATDRGSESDKHFRKGLLGELIL
LQQQIQEHEEEARRAAGQTSTSTAQQKRKVSDKEKIDQLQEELLHTQLKTQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMTS
EVLDVLSDTDASTNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAAL
RHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVT
DLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGTFAVVTGKGNSSESIEAIRETEEEFFQNSKLLKTSMLKAHQV
TTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNTPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVS
THVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAE
DSLRVIQHNALEDRSISDKQQWDAAITFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPATL
ASDEITTVRKNLESRGVEVDPSLIKDTWHQVTRRHFLKTALNHCNLCRRGFTYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLT

>In-frame_OPA1_ENST00000361715_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_999aa
MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSITHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKTGYQPRRNFWP
ARLATRLLKLRTLILGSAVGGGYTAKKTFDQWKDMIPDLSETKWIVPDIVWEIDETIDFGHKLVSEVIGASDLLLLLGSPEETAFRATDR
GSESDKHFRKGLLGELILLQQQIQEHEEEARRAAGQTSTSTAQQKRKVSDKEKIDQLQEELLHTQLKTQRILERLEKENKELRKLVLQKD
DKGIHHRKLKKSLIDMTSEVLDVLSDTDASTNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALF
KDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNA
IILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGTFAVVTGKGNSSESIEAIRETEEE
FFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNTPRLRELDRNELFEKAKNEILDEVISLSQV
TPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLK
EAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAITFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNET
KNELEKMLKCNEEHPATLASDEITTVRKNLESRGVEVDPSLIKDTWHQVTRRHFLKTALNHCNLCRRGFTYYQRHFVDSELECNDVVLFW
RIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLTLKIMKQMNLPLPLNLETKAIKT_VQAFQRNV

>In-frame_OPA1_ENST00000361908_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_1017aa
MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSITHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKTGYQPRRNFWP
ARLATRLLKLRTLILGSAVGGGYTAKKTFDQWKDMIPDLSETKWIVPDIVWEIDETIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLK
DFFTSGSPEETAFRATDRGSESDKHFRKGLLGELILLQQQIQEHEEEARRAAGQTSTSTAQQKRKVSDKEKIDQLQEELLHTQLKTQRIL
ERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMTSEVLDVLSDTDASTNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMT
RSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPD
TKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGTFAVVT
GKGNSSESIEAIRETEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNTPRLRELDRNEL
FEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSR
FMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAITFMEEALQARLKDTENAIENMVGPDWKK
RWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPATLASDEITTVRKNLESRGVEVDPSLIKDTWHQVTRRHFLKTALNHCNLCRRGFTYY
QRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLTLKIMKQMNLPLPL

>In-frame_OPA1_ENST00000392438_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_980aa
MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSITHSHHPTLKLQRPQLRTSFQQFSSLTNLPLRKLKFSPIKTGYQPRRNFWP
ARLATRLLKLRTLILGSAVGGGYTAKKTFDQWKDMIPDLSETKWIVPDIVWEIDETIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLK
DFFTSGSPEETAFRATDRGSESDKHFRKVSDKEKIDQLQEELLHTQLKTQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMTSE
VLDVLSDTDASTNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDLTKEEDLAALR
HEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFSISKAYMQNPNAIILCIQDGSVDAERSIVTD
LVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKLFPMKALGTFAVVTGKGNSSESIEAIRETEEEFFQNSKLLKTSMLKAHQVT
TRNLSLAVSDCFWKMVRESVEQQADSFKATRFNLETEWKNNTPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVST
HVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKLKEAVKEESIKRHKWNDFAED
SLRVIQHNALEDRSISDKQQWDAAITFMEEALQARLKDTENAIENMVGPDWKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPATLA
SDEITTVRKNLESRGVEVDPSLIKDTWHQVTRRHFLKTALNHCNLCRRGFTYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTN


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_OPA1_ENST00000361828_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_2996nt
ATGTGGCGACTACGTCGGGCCGCTGTGGCCTGTGAGGTCTGCCAGTCTTTAGTGAAACACAGCTCTGGAATAAAAGGAAGTTTACCACTA
CAAAAACTACATCTGGTTTCACGAAGCATTTATCATTCACATCATCCTACCTTAAAGCTTCAACGACCCCAATTAAGGACATCCTTTCAG
CAGTTCTCTTCTCTGACAAACCTTCCTTTACGTAAACTGAAATTCTCTCCAATTAAATATGGCTACCAGCCTCGCAGGAATTTTTGGCCA
GCAAGATTAGCTACGAGACTCTTAAAACTTCGCTATCTCATACTAGGATCGGCTGTTGGGGGTGGCTACACAGCCAAAAAGACTTTTGAT
CAGTGGAAAGATATGATACCGGACCTTAGTGAATATAAATGGATTGTGCCTGACATTGTGTGGGAAATTGATGAGTATATCGATTTTGAG
AAAATTAGAAAAGCCCTTCCTAGTTCAGAAGACCTTGTAAAGTTAGCACCAGACTTTGACAAGATTGTTGAAAGCCTTAGCTTATTGAAG
GACTTTTTTACCTCAGGTCACAAATTGGTTAGTGAAGTCATAGGAGCTTCTGACCTACTTCTCTTGTTAGGTTCTCCGGAAGAAACGGCG
TTTAGAGCAACAGATCGTGGATCTGAAAGTGACAAGCATTTTAGAAAGGTGTCAGACAAAGAGAAAATTGACCAACTTCAGGAAGAACTT
CTGCACACTCAGTTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAGAACAAAGAATTGAGAAAATTAGTATTGCAGAAAGATGAC
AAAGGCATTCATCATAGAAAGCTTAAGAAATCTTTGATTGACATGTATTCTGAAGTTCTTGATGTTCTCTCTGATTATGATGCCAGTTAT
AATACGCAAGATCATCTGCCACGGGTTGTTGTGGTTGGAGATCAGAGTGCTGGAAAGACTAGTGTGTTGGAAATGATTGCCCAAGCTCGA
ATATTCCCAAGAGGATCTGGGGAGATGATGACACGTTCTCCAGTTAAGGTGACTCTGAGTGAAGGTCCTCACCATGTGGCCCTATTTAAA
GATAGTTCTCGGGAGTTTGATCTTACCAAAGAAGAAGATCTTGCAGCATTAAGACATGAAATAGAACTTCGAATGAGGAAAAATGTGAAA
GAAGGCTGTACCGTTAGCCCTGAGACCATATCCTTAAATGTAAAAGGCCCTGGACTACAGAGGATGGTGCTTGTTGACTTACCAGGTGTG
ATTAATACTGTGACATCAGGCATGGCTCCTGACACAAAGGAAACTATTTTCAGTATCAGCAAAGCTTACATGCAGAATCCTAATGCCATC
ATACTGTGTATTCAAGATGGATCTGTGGATGCTGAACGCAGTATTGTTACAGACTTGGTCAGTCAAATGGACCCTCATGGAAGGAGAACC
ATATTCGTTTTGACCAAAGTAGACCTGGCAGAGAAAAATGTAGCCAGTCCAAGCAGGATTCAGCAGATAATTGAAGGAAAGCTCTTCCCA
ATGAAAGCTTTAGGTTATTTTGCTGTTGTAACAGGAAAAGGGAACAGCTCTGAAAGCATTGAAGCTATAAGAGAATATGAAGAAGAGTTT
TTTCAGAATTCAAAGCTCCTAAAGACAAGCATGCTAAAGGCACACCAAGTGACTACAAGAAATTTAAGCCTTGCAGTATCAGACTGCTTT
TGGAAAATGGTACGAGAGTCTGTTGAACAACAGGCTGATAGTTTCAAAGCAACACGTTTTAACCTTGAAACTGAATGGAAGAATAACTAT
CCTCGCCTGCGGGAACTTGACCGGAATGAACTATTTGAAAAAGCTAAAAATGAAATCCTTGATGAAGTTATCAGTCTGAGCCAGGTTACA
CCAAAACATTGGGAGGAAATCCTTCAACAATCTTTGTGGGAAAGAGTATCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCGCAG
ACCATGAATTCAGGAACTTTTAACACCACAGTGGATATCAAGCTTAAACAGTGGACTGATAAACAACTTCCTAATAAAGCAGTAGAGGTT
GCTTGGGAGACCCTACAAGAAGAATTTTCCCGCTTTATGACAGAACCGAAAGGGAAAGAGCATGATGACATATTTGATAAACTTAAAGAG
GCTGTTAAGGAAGAAAGTATTAAACGACACAAGTGGAATGACTTTGCGGAGGACAGCTTGAGGGTTATTCAACACAATGCTTTGGAAGAC
CGATCCATATCTGATAAACAGCAATGGGATGCAGCTATTTATTTTATGGAAGAGGCTCTGCAGGCTCGTCTCAAGGATACTGAAAATGCA
ATTGAAAACATGGTGGGTCCAGACTGGAAAAAGAGGTGGTTATACTGGAAGAATCGGACCCAAGAACAGTGTGTTCACAATGAAACCAAG
AATGAATTGGAGAAGATGTTGAAATGTAATGAGGAGCACCCAGCTTATCTTGCAAGTGATGAAATAACCACAGTCCGGAAGAACCTTGAA
TCCCGAGGAGTAGAAGTAGATCCAAGCTTGATTAAGGATACTTGGCATCAAGTTTATAGAAGACATTTTTTAAAAACAGCTCTAAACCAT
TGTAACCTTTGTCGAAGAGGTTTTTATTACTACCAAAGGCATTTTGTAGATTCTGAGTTGGAATGCAATGATGTGGTCTTGTTTTGGCGT
ATACAGCGCATGCTTGCTATCACCGCAAATACTTTAAGGCAACAACTTACAAATACTGAAGTTAGGCGATTAGAGAAAAATGTTAAAGAG
GTATTGGAAGATTTTGCTGAAGATGGTGAGAAGAAGATTAAATTGCTTACTGGTAAACGCGTTCAACTGGCGGAAGACCTCACTTTGAAG
ATTATGAAACAGATGAACCTGCCTCTCCCTCTGAATTTGGAAACAAAAGCAATAAAATATTAAGTGCAAGCCTTCCAGAGAAATGTGGAA

>In-frame_OPA1_ENST00000361510_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_3107nt
ATGTGGCGACTACGTCGGGCCGCTGTGGCCTGTGAGGTCTGCCAGTCTTTAGTGAAACACAGCTCTGGAATAAAAGGAAGTTTACCACTA
CAAAAACTACATCTGGTTTCACGAAGCATTTATCATTCACATCATCCTACCTTAAAGCTTCAACGACCCCAATTAAGGACATCCTTTCAG
CAGTTCTCTTCTCTGACAAACCTTCCTTTACGTAAACTGAAATTCTCTCCAATTAAATATGGCTACCAGCCTCGCAGGAATTTTTGGCCA
GCAAGATTAGCTACGAGACTCTTAAAACTTCGCTATCTCATACTAGGATCGGCTGTTGGGGGTGGCTACACAGCCAAAAAGACTTTTGAT
CAGTGGAAAGATATGATACCGGACCTTAGTGAATATAAATGGATTGTGCCTGACATTGTGTGGGAAATTGATGAGTATATCGATTTTGAG
AAAATTAGAAAAGCCCTTCCTAGTTCAGAAGACCTTGTAAAGTTAGCACCAGACTTTGACAAGATTGTTGAAAGCCTTAGCTTATTGAAG
GACTTTTTTACCTCAGGTCACAAATTGGTTAGTGAAGTCATAGGAGCTTCTGACCTACTTCTCTTGTTAGGTTCTCCGGAAGAAACGGCG
TTTAGAGCAACAGATCGTGGATCTGAAAGTGACAAGCATTTTAGAAAGGGTCTGCTTGGTGAGCTCATTCTCTTACAACAACAAATTCAA
GAGCATGAAGAGGAAGCGCGCAGAGCCGCTGGCCAATATAGCACGAGCTATGCCCAACAGAAGCGCAAGGTGTCAGACAAAGAGAAAATT
GACCAACTTCAGGAAGAACTTCTGCACACTCAGTTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAGAACAAAGAATTGAGAAAA
TTAGTATTGCAGAAAGATGACAAAGGCATTCATCATAGAAAGCTTAAGAAATCTTTGATTGACATGTATTCTGAAGTTCTTGATGTTCTC
TCTGATTATGATGCCAGTTATAATACGCAAGATCATCTGCCACGGGTTGTTGTGGTTGGAGATCAGAGTGCTGGAAAGACTAGTGTGTTG
GAAATGATTGCCCAAGCTCGAATATTCCCAAGAGGATCTGGGGAGATGATGACACGTTCTCCAGTTAAGGTGACTCTGAGTGAAGGTCCT
CACCATGTGGCCCTATTTAAAGATAGTTCTCGGGAGTTTGATCTTACCAAAGAAGAAGATCTTGCAGCATTAAGACATGAAATAGAACTT
CGAATGAGGAAAAATGTGAAAGAAGGCTGTACCGTTAGCCCTGAGACCATATCCTTAAATGTAAAAGGCCCTGGACTACAGAGGATGGTG
CTTGTTGACTTACCAGGTGTGATTAATACTGTGACATCAGGCATGGCTCCTGACACAAAGGAAACTATTTTCAGTATCAGCAAAGCTTAC
ATGCAGAATCCTAATGCCATCATACTGTGTATTCAAGATGGATCTGTGGATGCTGAACGCAGTATTGTTACAGACTTGGTCAGTCAAATG
GACCCTCATGGAAGGAGAACCATATTCGTTTTGACCAAAGTAGACCTGGCAGAGAAAAATGTAGCCAGTCCAAGCAGGATTCAGCAGATA
ATTGAAGGAAAGCTCTTCCCAATGAAAGCTTTAGGTTATTTTGCTGTTGTAACAGGAAAAGGGAACAGCTCTGAAAGCATTGAAGCTATA
AGAGAATATGAAGAAGAGTTTTTTCAGAATTCAAAGCTCCTAAAGACAAGCATGCTAAAGGCACACCAAGTGACTACAAGAAATTTAAGC
CTTGCAGTATCAGACTGCTTTTGGAAAATGGTACGAGAGTCTGTTGAACAACAGGCTGATAGTTTCAAAGCAACACGTTTTAACCTTGAA
ACTGAATGGAAGAATAACTATCCTCGCCTGCGGGAACTTGACCGGAATGAACTATTTGAAAAAGCTAAAAATGAAATCCTTGATGAAGTT
ATCAGTCTGAGCCAGGTTACACCAAAACATTGGGAGGAAATCCTTCAACAATCTTTGTGGGAAAGAGTATCAACTCATGTGATTGAAAAC
ATCTACCTTCCAGCTGCGCAGACCATGAATTCAGGAACTTTTAACACCACAGTGGATATCAAGCTTAAACAGTGGACTGATAAACAACTT
CCTAATAAAGCAGTAGAGGTTGCTTGGGAGACCCTACAAGAAGAATTTTCCCGCTTTATGACAGAACCGAAAGGGAAAGAGCATGATGAC
ATATTTGATAAACTTAAAGAGGCTGTTAAGGAAGAAAGTATTAAACGACACAAGTGGAATGACTTTGCGGAGGACAGCTTGAGGGTTATT
CAACACAATGCTTTGGAAGACCGATCCATATCTGATAAACAGCAATGGGATGCAGCTATTTATTTTATGGAAGAGGCTCTGCAGGCTCGT
CTCAAGGATACTGAAAATGCAATTGAAAACATGGTGGGTCCAGACTGGAAAAAGAGGTGGTTATACTGGAAGAATCGGACCCAAGAACAG
TGTGTTCACAATGAAACCAAGAATGAATTGGAGAAGATGTTGAAATGTAATGAGGAGCACCCAGCTTATCTTGCAAGTGATGAAATAACC
ACAGTCCGGAAGAACCTTGAATCCCGAGGAGTAGAAGTAGATCCAAGCTTGATTAAGGATACTTGGCATCAAGTTTATAGAAGACATTTT
TTAAAAACAGCTCTAAACCATTGTAACCTTTGTCGAAGAGGTTTTTATTACTACCAAAGGCATTTTGTAGATTCTGAGTTGGAATGCAAT
GATGTGGTCTTGTTTTGGCGTATACAGCGCATGCTTGCTATCACCGCAAATACTTTAAGGCAACAACTTACAAATACTGAAGTTAGGCGA
TTAGAGAAAAATGTTAAAGAGGTATTGGAAGATTTTGCTGAAGATGGTGAGAAGAAGATTAAATTGCTTACTGGTAAACGCGTTCAACTG
GCGGAAGACCTCACTTTGAAGATTATGAAACAGATGAACCTGCCTCTCCCTCTGAATTTGGAAACAAAAGCAATAAAATATTAAGTGCAA

>In-frame_OPA1_ENST00000361150_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_2945nt
ATGTGGCGACTACGTCGGGCCGCTGTGGCCTGTGAGGTCTGCCAGTCTTTAGTGAAACACAGCTCTGGAATAAAAGGAAGTTTACCACTA
CAAAAACTACATCTGGTTTCACGAAGCATTTATCATTCACATCATCCTACCTTAAAGCTTCAACGACCCCAATTAAGGACATCCTTTCAG
CAGTTCTCTTCTCTGACAAACCTTCCTTTACGTAAACTGAAATTCTCTCCAATTAAATATGGCTACCAGCCTCGCAGGAATTTTTGGCCA
GCAAGATTAGCTACGAGACTCTTAAAACTTCGCTATCTCATACTAGGATCGGCTGTTGGGGGTGGCTACACAGCCAAAAAGACTTTTGAT
CAGTGGAAAGATATGATACCGGACCTTAGTGAATATAAATGGATTGTGCCTGACATTGTGTGGGAAATTGATGAGTATATCGATTTTGGT
TCTCCGGAAGAAACGGCGTTTAGAGCAACAGATCGTGGATCTGAAAGTGACAAGCATTTTAGAAAGGGTCTGCTTGGTGAGCTCATTCTC
TTACAACAACAAATTCAAGAGCATGAAGAGGAAGCGCGCAGAGCCGCTGGCCAATATAGCACGAGCTATGCCCAACAGAAGCGCAAGGTG
TCAGACAAAGAGAAAATTGACCAACTTCAGGAAGAACTTCTGCACACTCAGTTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAG
AACAAAGAATTGAGAAAATTAGTATTGCAGAAAGATGACAAAGGCATTCATCATAGAAAGCTTAAGAAATCTTTGATTGACATGTATTCT
GAAGTTCTTGATGTTCTCTCTGATTATGATGCCAGTTATAATACGCAAGATCATCTGCCACGGGTTGTTGTGGTTGGAGATCAGAGTGCT
GGAAAGACTAGTGTGTTGGAAATGATTGCCCAAGCTCGAATATTCCCAAGAGGATCTGGGGAGATGATGACACGTTCTCCAGTTAAGGTG
ACTCTGAGTGAAGGTCCTCACCATGTGGCCCTATTTAAAGATAGTTCTCGGGAGTTTGATCTTACCAAAGAAGAAGATCTTGCAGCATTA
AGACATGAAATAGAACTTCGAATGAGGAAAAATGTGAAAGAAGGCTGTACCGTTAGCCCTGAGACCATATCCTTAAATGTAAAAGGCCCT
GGACTACAGAGGATGGTGCTTGTTGACTTACCAGGTGTGATTAATACTGTGACATCAGGCATGGCTCCTGACACAAAGGAAACTATTTTC
AGTATCAGCAAAGCTTACATGCAGAATCCTAATGCCATCATACTGTGTATTCAAGATGGATCTGTGGATGCTGAACGCAGTATTGTTACA
GACTTGGTCAGTCAAATGGACCCTCATGGAAGGAGAACCATATTCGTTTTGACCAAAGTAGACCTGGCAGAGAAAAATGTAGCCAGTCCA
AGCAGGATTCAGCAGATAATTGAAGGAAAGCTCTTCCCAATGAAAGCTTTAGGTTATTTTGCTGTTGTAACAGGAAAAGGGAACAGCTCT
GAAAGCATTGAAGCTATAAGAGAATATGAAGAAGAGTTTTTTCAGAATTCAAAGCTCCTAAAGACAAGCATGCTAAAGGCACACCAAGTG
ACTACAAGAAATTTAAGCCTTGCAGTATCAGACTGCTTTTGGAAAATGGTACGAGAGTCTGTTGAACAACAGGCTGATAGTTTCAAAGCA
ACACGTTTTAACCTTGAAACTGAATGGAAGAATAACTATCCTCGCCTGCGGGAACTTGACCGGAATGAACTATTTGAAAAAGCTAAAAAT
GAAATCCTTGATGAAGTTATCAGTCTGAGCCAGGTTACACCAAAACATTGGGAGGAAATCCTTCAACAATCTTTGTGGGAAAGAGTATCA
ACTCATGTGATTGAAAACATCTACCTTCCAGCTGCGCAGACCATGAATTCAGGAACTTTTAACACCACAGTGGATATCAAGCTTAAACAG
TGGACTGATAAACAACTTCCTAATAAAGCAGTAGAGGTTGCTTGGGAGACCCTACAAGAAGAATTTTCCCGCTTTATGACAGAACCGAAA
GGGAAAGAGCATGATGACATATTTGATAAACTTAAAGAGGCTGTTAAGGAAGAAAGTATTAAACGACACAAGTGGAATGACTTTGCGGAG
GACAGCTTGAGGGTTATTCAACACAATGCTTTGGAAGACCGATCCATATCTGATAAACAGCAATGGGATGCAGCTATTTATTTTATGGAA
GAGGCTCTGCAGGCTCGTCTCAAGGATACTGAAAATGCAATTGAAAACATGGTGGGTCCAGACTGGAAAAAGAGGTGGTTATACTGGAAG
AATCGGACCCAAGAACAGTGTGTTCACAATGAAACCAAGAATGAATTGGAGAAGATGTTGAAATGTAATGAGGAGCACCCAGCTTATCTT
GCAAGTGATGAAATAACCACAGTCCGGAAGAACCTTGAATCCCGAGGAGTAGAAGTAGATCCAAGCTTGATTAAGGATACTTGGCATCAA
GTTTATAGAAGACATTTTTTAAAAACAGCTCTAAACCATTGTAACCTTTGTCGAAGAGGTTTTTATTACTACCAAAGGCATTTTGTAGAT
TCTGAGTTGGAATGCAATGATGTGGTCTTGTTTTGGCGTATACAGCGCATGCTTGCTATCACCGCAAATACTTTAAGGCAACAACTTACA
AATACTGAAGTTAGGCGATTAGAGAAAAATGTTAAAGAGGTATTGGAAGATTTTGCTGAAGATGGTGAGAAGAAGATTAAATTGCTTACT
GGTAAACGCGTTCAACTGGCGGAAGACCTCACTTTGAAGATTATGAAACAGATGAACCTGCCTCTCCCTCTGAATTTGGAAACAAAAGCA

>In-frame_OPA1_ENST00000361715_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_2999nt
ATGTGGCGACTACGTCGGGCCGCTGTGGCCTGTGAGGTCTGCCAGTCTTTAGTGAAACACAGCTCTGGAATAAAAGGAAGTTTACCACTA
CAAAAACTACATCTGGTTTCACGAAGCATTTATCATTCACATCATCCTACCTTAAAGCTTCAACGACCCCAATTAAGGACATCCTTTCAG
CAGTTCTCTTCTCTGACAAACCTTCCTTTACGTAAACTGAAATTCTCTCCAATTAAATATGGCTACCAGCCTCGCAGGAATTTTTGGCCA
GCAAGATTAGCTACGAGACTCTTAAAACTTCGCTATCTCATACTAGGATCGGCTGTTGGGGGTGGCTACACAGCCAAAAAGACTTTTGAT
CAGTGGAAAGATATGATACCGGACCTTAGTGAATATAAATGGATTGTGCCTGACATTGTGTGGGAAATTGATGAGTATATCGATTTTGGT
CACAAATTGGTTAGTGAAGTCATAGGAGCTTCTGACCTACTTCTCTTGTTAGGTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATCGT
GGATCTGAAAGTGACAAGCATTTTAGAAAGGGTCTGCTTGGTGAGCTCATTCTCTTACAACAACAAATTCAAGAGCATGAAGAGGAAGCG
CGCAGAGCCGCTGGCCAATATAGCACGAGCTATGCCCAACAGAAGCGCAAGGTGTCAGACAAAGAGAAAATTGACCAACTTCAGGAAGAA
CTTCTGCACACTCAGTTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAGAACAAAGAATTGAGAAAATTAGTATTGCAGAAAGAT
GACAAAGGCATTCATCATAGAAAGCTTAAGAAATCTTTGATTGACATGTATTCTGAAGTTCTTGATGTTCTCTCTGATTATGATGCCAGT
TATAATACGCAAGATCATCTGCCACGGGTTGTTGTGGTTGGAGATCAGAGTGCTGGAAAGACTAGTGTGTTGGAAATGATTGCCCAAGCT
CGAATATTCCCAAGAGGATCTGGGGAGATGATGACACGTTCTCCAGTTAAGGTGACTCTGAGTGAAGGTCCTCACCATGTGGCCCTATTT
AAAGATAGTTCTCGGGAGTTTGATCTTACCAAAGAAGAAGATCTTGCAGCATTAAGACATGAAATAGAACTTCGAATGAGGAAAAATGTG
AAAGAAGGCTGTACCGTTAGCCCTGAGACCATATCCTTAAATGTAAAAGGCCCTGGACTACAGAGGATGGTGCTTGTTGACTTACCAGGT
GTGATTAATACTGTGACATCAGGCATGGCTCCTGACACAAAGGAAACTATTTTCAGTATCAGCAAAGCTTACATGCAGAATCCTAATGCC
ATCATACTGTGTATTCAAGATGGATCTGTGGATGCTGAACGCAGTATTGTTACAGACTTGGTCAGTCAAATGGACCCTCATGGAAGGAGA
ACCATATTCGTTTTGACCAAAGTAGACCTGGCAGAGAAAAATGTAGCCAGTCCAAGCAGGATTCAGCAGATAATTGAAGGAAAGCTCTTC
CCAATGAAAGCTTTAGGTTATTTTGCTGTTGTAACAGGAAAAGGGAACAGCTCTGAAAGCATTGAAGCTATAAGAGAATATGAAGAAGAG
TTTTTTCAGAATTCAAAGCTCCTAAAGACAAGCATGCTAAAGGCACACCAAGTGACTACAAGAAATTTAAGCCTTGCAGTATCAGACTGC
TTTTGGAAAATGGTACGAGAGTCTGTTGAACAACAGGCTGATAGTTTCAAAGCAACACGTTTTAACCTTGAAACTGAATGGAAGAATAAC
TATCCTCGCCTGCGGGAACTTGACCGGAATGAACTATTTGAAAAAGCTAAAAATGAAATCCTTGATGAAGTTATCAGTCTGAGCCAGGTT
ACACCAAAACATTGGGAGGAAATCCTTCAACAATCTTTGTGGGAAAGAGTATCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCG
CAGACCATGAATTCAGGAACTTTTAACACCACAGTGGATATCAAGCTTAAACAGTGGACTGATAAACAACTTCCTAATAAAGCAGTAGAG
GTTGCTTGGGAGACCCTACAAGAAGAATTTTCCCGCTTTATGACAGAACCGAAAGGGAAAGAGCATGATGACATATTTGATAAACTTAAA
GAGGCTGTTAAGGAAGAAAGTATTAAACGACACAAGTGGAATGACTTTGCGGAGGACAGCTTGAGGGTTATTCAACACAATGCTTTGGAA
GACCGATCCATATCTGATAAACAGCAATGGGATGCAGCTATTTATTTTATGGAAGAGGCTCTGCAGGCTCGTCTCAAGGATACTGAAAAT
GCAATTGAAAACATGGTGGGTCCAGACTGGAAAAAGAGGTGGTTATACTGGAAGAATCGGACCCAAGAACAGTGTGTTCACAATGAAACC
AAGAATGAATTGGAGAAGATGTTGAAATGTAATGAGGAGCACCCAGCTTATCTTGCAAGTGATGAAATAACCACAGTCCGGAAGAACCTT
GAATCCCGAGGAGTAGAAGTAGATCCAAGCTTGATTAAGGATACTTGGCATCAAGTTTATAGAAGACATTTTTTAAAAACAGCTCTAAAC
CATTGTAACCTTTGTCGAAGAGGTTTTTATTACTACCAAAGGCATTTTGTAGATTCTGAGTTGGAATGCAATGATGTGGTCTTGTTTTGG
CGTATACAGCGCATGCTTGCTATCACCGCAAATACTTTAAGGCAACAACTTACAAATACTGAAGTTAGGCGATTAGAGAAAAATGTTAAA
GAGGTATTGGAAGATTTTGCTGAAGATGGTGAGAAGAAGATTAAATTGCTTACTGGTAAACGCGTTCAACTGGCGGAAGACCTCACTTTG
AAGATTATGAAACAGATGAACCTGCCTCTCCCTCTGAATTTGGAAACAAAAGCAATAAAATATTAAGTGCAAGCCTTCCAGAGAAATGTG

>In-frame_OPA1_ENST00000361908_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_3053nt
ATGTGGCGACTACGTCGGGCCGCTGTGGCCTGTGAGGTCTGCCAGTCTTTAGTGAAACACAGCTCTGGAATAAAAGGAAGTTTACCACTA
CAAAAACTACATCTGGTTTCACGAAGCATTTATCATTCACATCATCCTACCTTAAAGCTTCAACGACCCCAATTAAGGACATCCTTTCAG
CAGTTCTCTTCTCTGACAAACCTTCCTTTACGTAAACTGAAATTCTCTCCAATTAAATATGGCTACCAGCCTCGCAGGAATTTTTGGCCA
GCAAGATTAGCTACGAGACTCTTAAAACTTCGCTATCTCATACTAGGATCGGCTGTTGGGGGTGGCTACACAGCCAAAAAGACTTTTGAT
CAGTGGAAAGATATGATACCGGACCTTAGTGAATATAAATGGATTGTGCCTGACATTGTGTGGGAAATTGATGAGTATATCGATTTTGAG
AAAATTAGAAAAGCCCTTCCTAGTTCAGAAGACCTTGTAAAGTTAGCACCAGACTTTGACAAGATTGTTGAAAGCCTTAGCTTATTGAAG
GACTTTTTTACCTCAGGTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATCGTGGATCTGAAAGTGACAAGCATTTTAGAAAGGGTCTG
CTTGGTGAGCTCATTCTCTTACAACAACAAATTCAAGAGCATGAAGAGGAAGCGCGCAGAGCCGCTGGCCAATATAGCACGAGCTATGCC
CAACAGAAGCGCAAGGTGTCAGACAAAGAGAAAATTGACCAACTTCAGGAAGAACTTCTGCACACTCAGTTGAAGTATCAGAGAATCTTG
GAACGATTAGAAAAGGAGAACAAAGAATTGAGAAAATTAGTATTGCAGAAAGATGACAAAGGCATTCATCATAGAAAGCTTAAGAAATCT
TTGATTGACATGTATTCTGAAGTTCTTGATGTTCTCTCTGATTATGATGCCAGTTATAATACGCAAGATCATCTGCCACGGGTTGTTGTG
GTTGGAGATCAGAGTGCTGGAAAGACTAGTGTGTTGGAAATGATTGCCCAAGCTCGAATATTCCCAAGAGGATCTGGGGAGATGATGACA
CGTTCTCCAGTTAAGGTGACTCTGAGTGAAGGTCCTCACCATGTGGCCCTATTTAAAGATAGTTCTCGGGAGTTTGATCTTACCAAAGAA
GAAGATCTTGCAGCATTAAGACATGAAATAGAACTTCGAATGAGGAAAAATGTGAAAGAAGGCTGTACCGTTAGCCCTGAGACCATATCC
TTAAATGTAAAAGGCCCTGGACTACAGAGGATGGTGCTTGTTGACTTACCAGGTGTGATTAATACTGTGACATCAGGCATGGCTCCTGAC
ACAAAGGAAACTATTTTCAGTATCAGCAAAGCTTACATGCAGAATCCTAATGCCATCATACTGTGTATTCAAGATGGATCTGTGGATGCT
GAACGCAGTATTGTTACAGACTTGGTCAGTCAAATGGACCCTCATGGAAGGAGAACCATATTCGTTTTGACCAAAGTAGACCTGGCAGAG
AAAAATGTAGCCAGTCCAAGCAGGATTCAGCAGATAATTGAAGGAAAGCTCTTCCCAATGAAAGCTTTAGGTTATTTTGCTGTTGTAACA
GGAAAAGGGAACAGCTCTGAAAGCATTGAAGCTATAAGAGAATATGAAGAAGAGTTTTTTCAGAATTCAAAGCTCCTAAAGACAAGCATG
CTAAAGGCACACCAAGTGACTACAAGAAATTTAAGCCTTGCAGTATCAGACTGCTTTTGGAAAATGGTACGAGAGTCTGTTGAACAACAG
GCTGATAGTTTCAAAGCAACACGTTTTAACCTTGAAACTGAATGGAAGAATAACTATCCTCGCCTGCGGGAACTTGACCGGAATGAACTA
TTTGAAAAAGCTAAAAATGAAATCCTTGATGAAGTTATCAGTCTGAGCCAGGTTACACCAAAACATTGGGAGGAAATCCTTCAACAATCT
TTGTGGGAAAGAGTATCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCGCAGACCATGAATTCAGGAACTTTTAACACCACAGTG
GATATCAAGCTTAAACAGTGGACTGATAAACAACTTCCTAATAAAGCAGTAGAGGTTGCTTGGGAGACCCTACAAGAAGAATTTTCCCGC
TTTATGACAGAACCGAAAGGGAAAGAGCATGATGACATATTTGATAAACTTAAAGAGGCTGTTAAGGAAGAAAGTATTAAACGACACAAG
TGGAATGACTTTGCGGAGGACAGCTTGAGGGTTATTCAACACAATGCTTTGGAAGACCGATCCATATCTGATAAACAGCAATGGGATGCA
GCTATTTATTTTATGGAAGAGGCTCTGCAGGCTCGTCTCAAGGATACTGAAAATGCAATTGAAAACATGGTGGGTCCAGACTGGAAAAAG
AGGTGGTTATACTGGAAGAATCGGACCCAAGAACAGTGTGTTCACAATGAAACCAAGAATGAATTGGAGAAGATGTTGAAATGTAATGAG
GAGCACCCAGCTTATCTTGCAAGTGATGAAATAACCACAGTCCGGAAGAACCTTGAATCCCGAGGAGTAGAAGTAGATCCAAGCTTGATT
AAGGATACTTGGCATCAAGTTTATAGAAGACATTTTTTAAAAACAGCTCTAAACCATTGTAACCTTTGTCGAAGAGGTTTTTATTACTAC
CAAAGGCATTTTGTAGATTCTGAGTTGGAATGCAATGATGTGGTCTTGTTTTGGCGTATACAGCGCATGCTTGCTATCACCGCAAATACT
TTAAGGCAACAACTTACAAATACTGAAGTTAGGCGATTAGAGAAAAATGTTAAAGAGGTATTGGAAGATTTTGCTGAAGATGGTGAGAAG
AAGATTAAATTGCTTACTGGTAAACGCGTTCAACTGGCGGAAGACCTCACTTTGAAGATTATGAAACAGATGAACCTGCCTCTCCCTCTG

>In-frame_OPA1_ENST00000392438_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_2942nt
ATGTGGCGACTACGTCGGGCCGCTGTGGCCTGTGAGGTCTGCCAGTCTTTAGTGAAACACAGCTCTGGAATAAAAGGAAGTTTACCACTA
CAAAAACTACATCTGGTTTCACGAAGCATTTATCATTCACATCATCCTACCTTAAAGCTTCAACGACCCCAATTAAGGACATCCTTTCAG
CAGTTCTCTTCTCTGACAAACCTTCCTTTACGTAAACTGAAATTCTCTCCAATTAAATATGGCTACCAGCCTCGCAGGAATTTTTGGCCA
GCAAGATTAGCTACGAGACTCTTAAAACTTCGCTATCTCATACTAGGATCGGCTGTTGGGGGTGGCTACACAGCCAAAAAGACTTTTGAT
CAGTGGAAAGATATGATACCGGACCTTAGTGAATATAAATGGATTGTGCCTGACATTGTGTGGGAAATTGATGAGTATATCGATTTTGAG
AAAATTAGAAAAGCCCTTCCTAGTTCAGAAGACCTTGTAAAGTTAGCACCAGACTTTGACAAGATTGTTGAAAGCCTTAGCTTATTGAAG
GACTTTTTTACCTCAGGTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATCGTGGATCTGAAAGTGACAAGCATTTTAGAAAGGTGTCA
GACAAAGAGAAAATTGACCAACTTCAGGAAGAACTTCTGCACACTCAGTTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAGAAC
AAAGAATTGAGAAAATTAGTATTGCAGAAAGATGACAAAGGCATTCATCATAGAAAGCTTAAGAAATCTTTGATTGACATGTATTCTGAA
GTTCTTGATGTTCTCTCTGATTATGATGCCAGTTATAATACGCAAGATCATCTGCCACGGGTTGTTGTGGTTGGAGATCAGAGTGCTGGA
AAGACTAGTGTGTTGGAAATGATTGCCCAAGCTCGAATATTCCCAAGAGGATCTGGGGAGATGATGACACGTTCTCCAGTTAAGGTGACT
CTGAGTGAAGGTCCTCACCATGTGGCCCTATTTAAAGATAGTTCTCGGGAGTTTGATCTTACCAAAGAAGAAGATCTTGCAGCATTAAGA
CATGAAATAGAACTTCGAATGAGGAAAAATGTGAAAGAAGGCTGTACCGTTAGCCCTGAGACCATATCCTTAAATGTAAAAGGCCCTGGA
CTACAGAGGATGGTGCTTGTTGACTTACCAGGTGTGATTAATACTGTGACATCAGGCATGGCTCCTGACACAAAGGAAACTATTTTCAGT
ATCAGCAAAGCTTACATGCAGAATCCTAATGCCATCATACTGTGTATTCAAGATGGATCTGTGGATGCTGAACGCAGTATTGTTACAGAC
TTGGTCAGTCAAATGGACCCTCATGGAAGGAGAACCATATTCGTTTTGACCAAAGTAGACCTGGCAGAGAAAAATGTAGCCAGTCCAAGC
AGGATTCAGCAGATAATTGAAGGAAAGCTCTTCCCAATGAAAGCTTTAGGTTATTTTGCTGTTGTAACAGGAAAAGGGAACAGCTCTGAA
AGCATTGAAGCTATAAGAGAATATGAAGAAGAGTTTTTTCAGAATTCAAAGCTCCTAAAGACAAGCATGCTAAAGGCACACCAAGTGACT
ACAAGAAATTTAAGCCTTGCAGTATCAGACTGCTTTTGGAAAATGGTACGAGAGTCTGTTGAACAACAGGCTGATAGTTTCAAAGCAACA
CGTTTTAACCTTGAAACTGAATGGAAGAATAACTATCCTCGCCTGCGGGAACTTGACCGGAATGAACTATTTGAAAAAGCTAAAAATGAA
ATCCTTGATGAAGTTATCAGTCTGAGCCAGGTTACACCAAAACATTGGGAGGAAATCCTTCAACAATCTTTGTGGGAAAGAGTATCAACT
CATGTGATTGAAAACATCTACCTTCCAGCTGCGCAGACCATGAATTCAGGAACTTTTAACACCACAGTGGATATCAAGCTTAAACAGTGG
ACTGATAAACAACTTCCTAATAAAGCAGTAGAGGTTGCTTGGGAGACCCTACAAGAAGAATTTTCCCGCTTTATGACAGAACCGAAAGGG
AAAGAGCATGATGACATATTTGATAAACTTAAAGAGGCTGTTAAGGAAGAAAGTATTAAACGACACAAGTGGAATGACTTTGCGGAGGAC
AGCTTGAGGGTTATTCAACACAATGCTTTGGAAGACCGATCCATATCTGATAAACAGCAATGGGATGCAGCTATTTATTTTATGGAAGAG
GCTCTGCAGGCTCGTCTCAAGGATACTGAAAATGCAATTGAAAACATGGTGGGTCCAGACTGGAAAAAGAGGTGGTTATACTGGAAGAAT
CGGACCCAAGAACAGTGTGTTCACAATGAAACCAAGAATGAATTGGAGAAGATGTTGAAATGTAATGAGGAGCACCCAGCTTATCTTGCA
AGTGATGAAATAACCACAGTCCGGAAGAACCTTGAATCCCGAGGAGTAGAAGTAGATCCAAGCTTGATTAAGGATACTTGGCATCAAGTT
TATAGAAGACATTTTTTAAAAACAGCTCTAAACCATTGTAACCTTTGTCGAAGAGGTTTTTATTACTACCAAAGGCATTTTGTAGATTCT
GAGTTGGAATGCAATGATGTGGTCTTGTTTTGGCGTATACAGCGCATGCTTGCTATCACCGCAAATACTTTAAGGCAACAACTTACAAAT
ACTGAAGTTAGGCGATTAGAGAAAAATGTTAAAGAGGTATTGGAAGATTTTGCTGAAGATGGTGAGAAGAAGATTAAATTGCTTACTGGT
AAACGCGTTCAACTGGCGGAAGACCTCACTTTGAAGATTATGAAACAGATGAACCTGCCTCTCCCTCTGAATTTGGAAACAAAAGCAATA


* Fusion transcript sequences (Full-length transcript).
>In-frame_OPA1_ENST00000361828_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_3448nt
GTGCTGCCCGCCTAGAAAGGGTGAAGTGGTTGTTTCCGTGACGGACTGAGTACGGGTGCCTGTCAGGCTCTTGCGGAAGTCCATGCGCCA
TTGGGAGGGCCTCGGCCGCGGCTCTGTGCCCTTGCTGCTGAGGGCCACTTCCTGGGTCATTCCTGGACCGGGAGCCGGGCTGGGGCTCAC
ACGGGGGCTCCCGCGTGGCCGTCTCGGCGCCTGCGTGACCTCCCCGCCGGCGGGATGTGGCGACTACGTCGGGCCGCTGTGGCCTGTGAG
GTCTGCCAGTCTTTAGTGAAACACAGCTCTGGAATAAAAGGAAGTTTACCACTACAAAAACTACATCTGGTTTCACGAAGCATTTATCAT
TCACATCATCCTACCTTAAAGCTTCAACGACCCCAATTAAGGACATCCTTTCAGCAGTTCTCTTCTCTGACAAACCTTCCTTTACGTAAA
CTGAAATTCTCTCCAATTAAATATGGCTACCAGCCTCGCAGGAATTTTTGGCCAGCAAGATTAGCTACGAGACTCTTAAAACTTCGCTAT
CTCATACTAGGATCGGCTGTTGGGGGTGGCTACACAGCCAAAAAGACTTTTGATCAGTGGAAAGATATGATACCGGACCTTAGTGAATAT
AAATGGATTGTGCCTGACATTGTGTGGGAAATTGATGAGTATATCGATTTTGAGAAAATTAGAAAAGCCCTTCCTAGTTCAGAAGACCTT
GTAAAGTTAGCACCAGACTTTGACAAGATTGTTGAAAGCCTTAGCTTATTGAAGGACTTTTTTACCTCAGGTCACAAATTGGTTAGTGAA
GTCATAGGAGCTTCTGACCTACTTCTCTTGTTAGGTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATCGTGGATCTGAAAGTGACAAG
CATTTTAGAAAGGTGTCAGACAAAGAGAAAATTGACCAACTTCAGGAAGAACTTCTGCACACTCAGTTGAAGTATCAGAGAATCTTGGAA
CGATTAGAAAAGGAGAACAAAGAATTGAGAAAATTAGTATTGCAGAAAGATGACAAAGGCATTCATCATAGAAAGCTTAAGAAATCTTTG
ATTGACATGTATTCTGAAGTTCTTGATGTTCTCTCTGATTATGATGCCAGTTATAATACGCAAGATCATCTGCCACGGGTTGTTGTGGTT
GGAGATCAGAGTGCTGGAAAGACTAGTGTGTTGGAAATGATTGCCCAAGCTCGAATATTCCCAAGAGGATCTGGGGAGATGATGACACGT
TCTCCAGTTAAGGTGACTCTGAGTGAAGGTCCTCACCATGTGGCCCTATTTAAAGATAGTTCTCGGGAGTTTGATCTTACCAAAGAAGAA
GATCTTGCAGCATTAAGACATGAAATAGAACTTCGAATGAGGAAAAATGTGAAAGAAGGCTGTACCGTTAGCCCTGAGACCATATCCTTA
AATGTAAAAGGCCCTGGACTACAGAGGATGGTGCTTGTTGACTTACCAGGTGTGATTAATACTGTGACATCAGGCATGGCTCCTGACACA
AAGGAAACTATTTTCAGTATCAGCAAAGCTTACATGCAGAATCCTAATGCCATCATACTGTGTATTCAAGATGGATCTGTGGATGCTGAA
CGCAGTATTGTTACAGACTTGGTCAGTCAAATGGACCCTCATGGAAGGAGAACCATATTCGTTTTGACCAAAGTAGACCTGGCAGAGAAA
AATGTAGCCAGTCCAAGCAGGATTCAGCAGATAATTGAAGGAAAGCTCTTCCCAATGAAAGCTTTAGGTTATTTTGCTGTTGTAACAGGA
AAAGGGAACAGCTCTGAAAGCATTGAAGCTATAAGAGAATATGAAGAAGAGTTTTTTCAGAATTCAAAGCTCCTAAAGACAAGCATGCTA
AAGGCACACCAAGTGACTACAAGAAATTTAAGCCTTGCAGTATCAGACTGCTTTTGGAAAATGGTACGAGAGTCTGTTGAACAACAGGCT
GATAGTTTCAAAGCAACACGTTTTAACCTTGAAACTGAATGGAAGAATAACTATCCTCGCCTGCGGGAACTTGACCGGAATGAACTATTT
GAAAAAGCTAAAAATGAAATCCTTGATGAAGTTATCAGTCTGAGCCAGGTTACACCAAAACATTGGGAGGAAATCCTTCAACAATCTTTG
TGGGAAAGAGTATCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCGCAGACCATGAATTCAGGAACTTTTAACACCACAGTGGAT
ATCAAGCTTAAACAGTGGACTGATAAACAACTTCCTAATAAAGCAGTAGAGGTTGCTTGGGAGACCCTACAAGAAGAATTTTCCCGCTTT
ATGACAGAACCGAAAGGGAAAGAGCATGATGACATATTTGATAAACTTAAAGAGGCTGTTAAGGAAGAAAGTATTAAACGACACAAGTGG
AATGACTTTGCGGAGGACAGCTTGAGGGTTATTCAACACAATGCTTTGGAAGACCGATCCATATCTGATAAACAGCAATGGGATGCAGCT
ATTTATTTTATGGAAGAGGCTCTGCAGGCTCGTCTCAAGGATACTGAAAATGCAATTGAAAACATGGTGGGTCCAGACTGGAAAAAGAGG
TGGTTATACTGGAAGAATCGGACCCAAGAACAGTGTGTTCACAATGAAACCAAGAATGAATTGGAGAAGATGTTGAAATGTAATGAGGAG
CACCCAGCTTATCTTGCAAGTGATGAAATAACCACAGTCCGGAAGAACCTTGAATCCCGAGGAGTAGAAGTAGATCCAAGCTTGATTAAG
GATACTTGGCATCAAGTTTATAGAAGACATTTTTTAAAAACAGCTCTAAACCATTGTAACCTTTGTCGAAGAGGTTTTTATTACTACCAA
AGGCATTTTGTAGATTCTGAGTTGGAATGCAATGATGTGGTCTTGTTTTGGCGTATACAGCGCATGCTTGCTATCACCGCAAATACTTTA
AGGCAACAACTTACAAATACTGAAGTTAGGCGATTAGAGAAAAATGTTAAAGAGGTATTGGAAGATTTTGCTGAAGATGGTGAGAAGAAG
ATTAAATTGCTTACTGGTAAACGCGTTCAACTGGCGGAAGACCTCACTTTGAAGATTATGAAACAGATGAACCTGCCTCTCCCTCTGAAT
TTGGAAACAAAAGCAATAAAATATTAAGTGCAAGCCTTCCAGAGAAATGTGGAAAGCTTCAATCAGTGGATGAAGAATAGCTGCCGGTGT
CTACAATGAAACGAAGATGTGTATTTTAAATGTTTCTTTCTTGTGAAGAGATGTTCTCGTTTGCATACTGCTTTTTAAAGACTTTGATTT
CTCCAAGTGTGTATCATCTGCACTAGGAACTTTGTTTTTAAGCAATAGGTCTGGATACACATTTAACTTAGGAGGCTCCTCCAATTTGCC

>In-frame_OPA1_ENST00000361510_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_3559nt
GTGCTGCCCGCCTAGAAAGGGTGAAGTGGTTGTTTCCGTGACGGACTGAGTACGGGTGCCTGTCAGGCTCTTGCGGAAGTCCATGCGCCA
TTGGGAGGGCCTCGGCCGCGGCTCTGTGCCCTTGCTGCTGAGGGCCACTTCCTGGGTCATTCCTGGACCGGGAGCCGGGCTGGGGCTCAC
ACGGGGGCTCCCGCGTGGCCGTCTCGGCGCCTGCGTGACCTCCCCGCCGGCGGGATGTGGCGACTACGTCGGGCCGCTGTGGCCTGTGAG
GTCTGCCAGTCTTTAGTGAAACACAGCTCTGGAATAAAAGGAAGTTTACCACTACAAAAACTACATCTGGTTTCACGAAGCATTTATCAT
TCACATCATCCTACCTTAAAGCTTCAACGACCCCAATTAAGGACATCCTTTCAGCAGTTCTCTTCTCTGACAAACCTTCCTTTACGTAAA
CTGAAATTCTCTCCAATTAAATATGGCTACCAGCCTCGCAGGAATTTTTGGCCAGCAAGATTAGCTACGAGACTCTTAAAACTTCGCTAT
CTCATACTAGGATCGGCTGTTGGGGGTGGCTACACAGCCAAAAAGACTTTTGATCAGTGGAAAGATATGATACCGGACCTTAGTGAATAT
AAATGGATTGTGCCTGACATTGTGTGGGAAATTGATGAGTATATCGATTTTGAGAAAATTAGAAAAGCCCTTCCTAGTTCAGAAGACCTT
GTAAAGTTAGCACCAGACTTTGACAAGATTGTTGAAAGCCTTAGCTTATTGAAGGACTTTTTTACCTCAGGTCACAAATTGGTTAGTGAA
GTCATAGGAGCTTCTGACCTACTTCTCTTGTTAGGTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATCGTGGATCTGAAAGTGACAAG
CATTTTAGAAAGGGTCTGCTTGGTGAGCTCATTCTCTTACAACAACAAATTCAAGAGCATGAAGAGGAAGCGCGCAGAGCCGCTGGCCAA
TATAGCACGAGCTATGCCCAACAGAAGCGCAAGGTGTCAGACAAAGAGAAAATTGACCAACTTCAGGAAGAACTTCTGCACACTCAGTTG
AAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAGAACAAAGAATTGAGAAAATTAGTATTGCAGAAAGATGACAAAGGCATTCATCAT
AGAAAGCTTAAGAAATCTTTGATTGACATGTATTCTGAAGTTCTTGATGTTCTCTCTGATTATGATGCCAGTTATAATACGCAAGATCAT
CTGCCACGGGTTGTTGTGGTTGGAGATCAGAGTGCTGGAAAGACTAGTGTGTTGGAAATGATTGCCCAAGCTCGAATATTCCCAAGAGGA
TCTGGGGAGATGATGACACGTTCTCCAGTTAAGGTGACTCTGAGTGAAGGTCCTCACCATGTGGCCCTATTTAAAGATAGTTCTCGGGAG
TTTGATCTTACCAAAGAAGAAGATCTTGCAGCATTAAGACATGAAATAGAACTTCGAATGAGGAAAAATGTGAAAGAAGGCTGTACCGTT
AGCCCTGAGACCATATCCTTAAATGTAAAAGGCCCTGGACTACAGAGGATGGTGCTTGTTGACTTACCAGGTGTGATTAATACTGTGACA
TCAGGCATGGCTCCTGACACAAAGGAAACTATTTTCAGTATCAGCAAAGCTTACATGCAGAATCCTAATGCCATCATACTGTGTATTCAA
GATGGATCTGTGGATGCTGAACGCAGTATTGTTACAGACTTGGTCAGTCAAATGGACCCTCATGGAAGGAGAACCATATTCGTTTTGACC
AAAGTAGACCTGGCAGAGAAAAATGTAGCCAGTCCAAGCAGGATTCAGCAGATAATTGAAGGAAAGCTCTTCCCAATGAAAGCTTTAGGT
TATTTTGCTGTTGTAACAGGAAAAGGGAACAGCTCTGAAAGCATTGAAGCTATAAGAGAATATGAAGAAGAGTTTTTTCAGAATTCAAAG
CTCCTAAAGACAAGCATGCTAAAGGCACACCAAGTGACTACAAGAAATTTAAGCCTTGCAGTATCAGACTGCTTTTGGAAAATGGTACGA
GAGTCTGTTGAACAACAGGCTGATAGTTTCAAAGCAACACGTTTTAACCTTGAAACTGAATGGAAGAATAACTATCCTCGCCTGCGGGAA
CTTGACCGGAATGAACTATTTGAAAAAGCTAAAAATGAAATCCTTGATGAAGTTATCAGTCTGAGCCAGGTTACACCAAAACATTGGGAG
GAAATCCTTCAACAATCTTTGTGGGAAAGAGTATCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCGCAGACCATGAATTCAGGA
ACTTTTAACACCACAGTGGATATCAAGCTTAAACAGTGGACTGATAAACAACTTCCTAATAAAGCAGTAGAGGTTGCTTGGGAGACCCTA
CAAGAAGAATTTTCCCGCTTTATGACAGAACCGAAAGGGAAAGAGCATGATGACATATTTGATAAACTTAAAGAGGCTGTTAAGGAAGAA
AGTATTAAACGACACAAGTGGAATGACTTTGCGGAGGACAGCTTGAGGGTTATTCAACACAATGCTTTGGAAGACCGATCCATATCTGAT
AAACAGCAATGGGATGCAGCTATTTATTTTATGGAAGAGGCTCTGCAGGCTCGTCTCAAGGATACTGAAAATGCAATTGAAAACATGGTG
GGTCCAGACTGGAAAAAGAGGTGGTTATACTGGAAGAATCGGACCCAAGAACAGTGTGTTCACAATGAAACCAAGAATGAATTGGAGAAG
ATGTTGAAATGTAATGAGGAGCACCCAGCTTATCTTGCAAGTGATGAAATAACCACAGTCCGGAAGAACCTTGAATCCCGAGGAGTAGAA
GTAGATCCAAGCTTGATTAAGGATACTTGGCATCAAGTTTATAGAAGACATTTTTTAAAAACAGCTCTAAACCATTGTAACCTTTGTCGA
AGAGGTTTTTATTACTACCAAAGGCATTTTGTAGATTCTGAGTTGGAATGCAATGATGTGGTCTTGTTTTGGCGTATACAGCGCATGCTT
GCTATCACCGCAAATACTTTAAGGCAACAACTTACAAATACTGAAGTTAGGCGATTAGAGAAAAATGTTAAAGAGGTATTGGAAGATTTT
GCTGAAGATGGTGAGAAGAAGATTAAATTGCTTACTGGTAAACGCGTTCAACTGGCGGAAGACCTCACTTTGAAGATTATGAAACAGATG
AACCTGCCTCTCCCTCTGAATTTGGAAACAAAAGCAATAAAATATTAAGTGCAAGCCTTCCAGAGAAATGTGGAAAGCTTCAATCAGTGG
ATGAAGAATAGCTGCCGGTGTCTACAATGAAACGAAGATGTGTATTTTAAATGTTTCTTTCTTGTGAAGAGATGTTCTCGTTTGCATACT
GCTTTTTAAAGACTTTGATTTCTCCAAGTGTGTATCATCTGCACTAGGAACTTTGTTTTTAAGCAATAGGTCTGGATACACATTTAACTT

>In-frame_OPA1_ENST00000361150_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_3397nt
GTGCTGCCCGCCTAGAAAGGGTGAAGTGGTTGTTTCCGTGACGGACTGAGTACGGGTGCCTGTCAGGCTCTTGCGGAAGTCCATGCGCCA
TTGGGAGGGCCTCGGCCGCGGCTCTGTGCCCTTGCTGCTGAGGGCCACTTCCTGGGTCATTCCTGGACCGGGAGCCGGGCTGGGGCTCAC
ACGGGGGCTCCCGCGTGGCCGTCTCGGCGCCTGCGTGACCTCCCCGCCGGCGGGATGTGGCGACTACGTCGGGCCGCTGTGGCCTGTGAG
GTCTGCCAGTCTTTAGTGAAACACAGCTCTGGAATAAAAGGAAGTTTACCACTACAAAAACTACATCTGGTTTCACGAAGCATTTATCAT
TCACATCATCCTACCTTAAAGCTTCAACGACCCCAATTAAGGACATCCTTTCAGCAGTTCTCTTCTCTGACAAACCTTCCTTTACGTAAA
CTGAAATTCTCTCCAATTAAATATGGCTACCAGCCTCGCAGGAATTTTTGGCCAGCAAGATTAGCTACGAGACTCTTAAAACTTCGCTAT
CTCATACTAGGATCGGCTGTTGGGGGTGGCTACACAGCCAAAAAGACTTTTGATCAGTGGAAAGATATGATACCGGACCTTAGTGAATAT
AAATGGATTGTGCCTGACATTGTGTGGGAAATTGATGAGTATATCGATTTTGGTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATCGT
GGATCTGAAAGTGACAAGCATTTTAGAAAGGGTCTGCTTGGTGAGCTCATTCTCTTACAACAACAAATTCAAGAGCATGAAGAGGAAGCG
CGCAGAGCCGCTGGCCAATATAGCACGAGCTATGCCCAACAGAAGCGCAAGGTGTCAGACAAAGAGAAAATTGACCAACTTCAGGAAGAA
CTTCTGCACACTCAGTTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAGAACAAAGAATTGAGAAAATTAGTATTGCAGAAAGAT
GACAAAGGCATTCATCATAGAAAGCTTAAGAAATCTTTGATTGACATGTATTCTGAAGTTCTTGATGTTCTCTCTGATTATGATGCCAGT
TATAATACGCAAGATCATCTGCCACGGGTTGTTGTGGTTGGAGATCAGAGTGCTGGAAAGACTAGTGTGTTGGAAATGATTGCCCAAGCT
CGAATATTCCCAAGAGGATCTGGGGAGATGATGACACGTTCTCCAGTTAAGGTGACTCTGAGTGAAGGTCCTCACCATGTGGCCCTATTT
AAAGATAGTTCTCGGGAGTTTGATCTTACCAAAGAAGAAGATCTTGCAGCATTAAGACATGAAATAGAACTTCGAATGAGGAAAAATGTG
AAAGAAGGCTGTACCGTTAGCCCTGAGACCATATCCTTAAATGTAAAAGGCCCTGGACTACAGAGGATGGTGCTTGTTGACTTACCAGGT
GTGATTAATACTGTGACATCAGGCATGGCTCCTGACACAAAGGAAACTATTTTCAGTATCAGCAAAGCTTACATGCAGAATCCTAATGCC
ATCATACTGTGTATTCAAGATGGATCTGTGGATGCTGAACGCAGTATTGTTACAGACTTGGTCAGTCAAATGGACCCTCATGGAAGGAGA
ACCATATTCGTTTTGACCAAAGTAGACCTGGCAGAGAAAAATGTAGCCAGTCCAAGCAGGATTCAGCAGATAATTGAAGGAAAGCTCTTC
CCAATGAAAGCTTTAGGTTATTTTGCTGTTGTAACAGGAAAAGGGAACAGCTCTGAAAGCATTGAAGCTATAAGAGAATATGAAGAAGAG
TTTTTTCAGAATTCAAAGCTCCTAAAGACAAGCATGCTAAAGGCACACCAAGTGACTACAAGAAATTTAAGCCTTGCAGTATCAGACTGC
TTTTGGAAAATGGTACGAGAGTCTGTTGAACAACAGGCTGATAGTTTCAAAGCAACACGTTTTAACCTTGAAACTGAATGGAAGAATAAC
TATCCTCGCCTGCGGGAACTTGACCGGAATGAACTATTTGAAAAAGCTAAAAATGAAATCCTTGATGAAGTTATCAGTCTGAGCCAGGTT
ACACCAAAACATTGGGAGGAAATCCTTCAACAATCTTTGTGGGAAAGAGTATCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCG
CAGACCATGAATTCAGGAACTTTTAACACCACAGTGGATATCAAGCTTAAACAGTGGACTGATAAACAACTTCCTAATAAAGCAGTAGAG
GTTGCTTGGGAGACCCTACAAGAAGAATTTTCCCGCTTTATGACAGAACCGAAAGGGAAAGAGCATGATGACATATTTGATAAACTTAAA
GAGGCTGTTAAGGAAGAAAGTATTAAACGACACAAGTGGAATGACTTTGCGGAGGACAGCTTGAGGGTTATTCAACACAATGCTTTGGAA
GACCGATCCATATCTGATAAACAGCAATGGGATGCAGCTATTTATTTTATGGAAGAGGCTCTGCAGGCTCGTCTCAAGGATACTGAAAAT
GCAATTGAAAACATGGTGGGTCCAGACTGGAAAAAGAGGTGGTTATACTGGAAGAATCGGACCCAAGAACAGTGTGTTCACAATGAAACC
AAGAATGAATTGGAGAAGATGTTGAAATGTAATGAGGAGCACCCAGCTTATCTTGCAAGTGATGAAATAACCACAGTCCGGAAGAACCTT
GAATCCCGAGGAGTAGAAGTAGATCCAAGCTTGATTAAGGATACTTGGCATCAAGTTTATAGAAGACATTTTTTAAAAACAGCTCTAAAC
CATTGTAACCTTTGTCGAAGAGGTTTTTATTACTACCAAAGGCATTTTGTAGATTCTGAGTTGGAATGCAATGATGTGGTCTTGTTTTGG
CGTATACAGCGCATGCTTGCTATCACCGCAAATACTTTAAGGCAACAACTTACAAATACTGAAGTTAGGCGATTAGAGAAAAATGTTAAA
GAGGTATTGGAAGATTTTGCTGAAGATGGTGAGAAGAAGATTAAATTGCTTACTGGTAAACGCGTTCAACTGGCGGAAGACCTCACTTTG
AAGATTATGAAACAGATGAACCTGCCTCTCCCTCTGAATTTGGAAACAAAAGCAATAAAATATTAAGTGCAAGCCTTCCAGAGAAATGTG
GAAAGCTTCAATCAGTGGATGAAGAATAGCTGCCGGTGTCTACAATGAAACGAAGATGTGTATTTTAAATGTTTCTTTCTTGTGAAGAGA
TGTTCTCGTTTGCATACTGCTTTTTAAAGACTTTGATTTCTCCAAGTGTGTATCATCTGCACTAGGAACTTTGTTTTTAAGCAATAGGTC

>In-frame_OPA1_ENST00000361715_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_3451nt
GTGCTGCCCGCCTAGAAAGGGTGAAGTGGTTGTTTCCGTGACGGACTGAGTACGGGTGCCTGTCAGGCTCTTGCGGAAGTCCATGCGCCA
TTGGGAGGGCCTCGGCCGCGGCTCTGTGCCCTTGCTGCTGAGGGCCACTTCCTGGGTCATTCCTGGACCGGGAGCCGGGCTGGGGCTCAC
ACGGGGGCTCCCGCGTGGCCGTCTCGGCGCCTGCGTGACCTCCCCGCCGGCGGGATGTGGCGACTACGTCGGGCCGCTGTGGCCTGTGAG
GTCTGCCAGTCTTTAGTGAAACACAGCTCTGGAATAAAAGGAAGTTTACCACTACAAAAACTACATCTGGTTTCACGAAGCATTTATCAT
TCACATCATCCTACCTTAAAGCTTCAACGACCCCAATTAAGGACATCCTTTCAGCAGTTCTCTTCTCTGACAAACCTTCCTTTACGTAAA
CTGAAATTCTCTCCAATTAAATATGGCTACCAGCCTCGCAGGAATTTTTGGCCAGCAAGATTAGCTACGAGACTCTTAAAACTTCGCTAT
CTCATACTAGGATCGGCTGTTGGGGGTGGCTACACAGCCAAAAAGACTTTTGATCAGTGGAAAGATATGATACCGGACCTTAGTGAATAT
AAATGGATTGTGCCTGACATTGTGTGGGAAATTGATGAGTATATCGATTTTGGTCACAAATTGGTTAGTGAAGTCATAGGAGCTTCTGAC
CTACTTCTCTTGTTAGGTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATCGTGGATCTGAAAGTGACAAGCATTTTAGAAAGGGTCTG
CTTGGTGAGCTCATTCTCTTACAACAACAAATTCAAGAGCATGAAGAGGAAGCGCGCAGAGCCGCTGGCCAATATAGCACGAGCTATGCC
CAACAGAAGCGCAAGGTGTCAGACAAAGAGAAAATTGACCAACTTCAGGAAGAACTTCTGCACACTCAGTTGAAGTATCAGAGAATCTTG
GAACGATTAGAAAAGGAGAACAAAGAATTGAGAAAATTAGTATTGCAGAAAGATGACAAAGGCATTCATCATAGAAAGCTTAAGAAATCT
TTGATTGACATGTATTCTGAAGTTCTTGATGTTCTCTCTGATTATGATGCCAGTTATAATACGCAAGATCATCTGCCACGGGTTGTTGTG
GTTGGAGATCAGAGTGCTGGAAAGACTAGTGTGTTGGAAATGATTGCCCAAGCTCGAATATTCCCAAGAGGATCTGGGGAGATGATGACA
CGTTCTCCAGTTAAGGTGACTCTGAGTGAAGGTCCTCACCATGTGGCCCTATTTAAAGATAGTTCTCGGGAGTTTGATCTTACCAAAGAA
GAAGATCTTGCAGCATTAAGACATGAAATAGAACTTCGAATGAGGAAAAATGTGAAAGAAGGCTGTACCGTTAGCCCTGAGACCATATCC
TTAAATGTAAAAGGCCCTGGACTACAGAGGATGGTGCTTGTTGACTTACCAGGTGTGATTAATACTGTGACATCAGGCATGGCTCCTGAC
ACAAAGGAAACTATTTTCAGTATCAGCAAAGCTTACATGCAGAATCCTAATGCCATCATACTGTGTATTCAAGATGGATCTGTGGATGCT
GAACGCAGTATTGTTACAGACTTGGTCAGTCAAATGGACCCTCATGGAAGGAGAACCATATTCGTTTTGACCAAAGTAGACCTGGCAGAG
AAAAATGTAGCCAGTCCAAGCAGGATTCAGCAGATAATTGAAGGAAAGCTCTTCCCAATGAAAGCTTTAGGTTATTTTGCTGTTGTAACA
GGAAAAGGGAACAGCTCTGAAAGCATTGAAGCTATAAGAGAATATGAAGAAGAGTTTTTTCAGAATTCAAAGCTCCTAAAGACAAGCATG
CTAAAGGCACACCAAGTGACTACAAGAAATTTAAGCCTTGCAGTATCAGACTGCTTTTGGAAAATGGTACGAGAGTCTGTTGAACAACAG
GCTGATAGTTTCAAAGCAACACGTTTTAACCTTGAAACTGAATGGAAGAATAACTATCCTCGCCTGCGGGAACTTGACCGGAATGAACTA
TTTGAAAAAGCTAAAAATGAAATCCTTGATGAAGTTATCAGTCTGAGCCAGGTTACACCAAAACATTGGGAGGAAATCCTTCAACAATCT
TTGTGGGAAAGAGTATCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCGCAGACCATGAATTCAGGAACTTTTAACACCACAGTG
GATATCAAGCTTAAACAGTGGACTGATAAACAACTTCCTAATAAAGCAGTAGAGGTTGCTTGGGAGACCCTACAAGAAGAATTTTCCCGC
TTTATGACAGAACCGAAAGGGAAAGAGCATGATGACATATTTGATAAACTTAAAGAGGCTGTTAAGGAAGAAAGTATTAAACGACACAAG
TGGAATGACTTTGCGGAGGACAGCTTGAGGGTTATTCAACACAATGCTTTGGAAGACCGATCCATATCTGATAAACAGCAATGGGATGCA
GCTATTTATTTTATGGAAGAGGCTCTGCAGGCTCGTCTCAAGGATACTGAAAATGCAATTGAAAACATGGTGGGTCCAGACTGGAAAAAG
AGGTGGTTATACTGGAAGAATCGGACCCAAGAACAGTGTGTTCACAATGAAACCAAGAATGAATTGGAGAAGATGTTGAAATGTAATGAG
GAGCACCCAGCTTATCTTGCAAGTGATGAAATAACCACAGTCCGGAAGAACCTTGAATCCCGAGGAGTAGAAGTAGATCCAAGCTTGATT
AAGGATACTTGGCATCAAGTTTATAGAAGACATTTTTTAAAAACAGCTCTAAACCATTGTAACCTTTGTCGAAGAGGTTTTTATTACTAC
CAAAGGCATTTTGTAGATTCTGAGTTGGAATGCAATGATGTGGTCTTGTTTTGGCGTATACAGCGCATGCTTGCTATCACCGCAAATACT
TTAAGGCAACAACTTACAAATACTGAAGTTAGGCGATTAGAGAAAAATGTTAAAGAGGTATTGGAAGATTTTGCTGAAGATGGTGAGAAG
AAGATTAAATTGCTTACTGGTAAACGCGTTCAACTGGCGGAAGACCTCACTTTGAAGATTATGAAACAGATGAACCTGCCTCTCCCTCTG
AATTTGGAAACAAAAGCAATAAAATATTAAGTGCAAGCCTTCCAGAGAAATGTGGAAAGCTTCAATCAGTGGATGAAGAATAGCTGCCGG
TGTCTACAATGAAACGAAGATGTGTATTTTAAATGTTTCTTTCTTGTGAAGAGATGTTCTCGTTTGCATACTGCTTTTTAAAGACTTTGA
TTTCTCCAAGTGTGTATCATCTGCACTAGGAACTTTGTTTTTAAGCAATAGGTCTGGATACACATTTAACTTAGGAGGCTCCTCCAATTT

>In-frame_OPA1_ENST00000361908_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_3505nt
GTGCTGCCCGCCTAGAAAGGGTGAAGTGGTTGTTTCCGTGACGGACTGAGTACGGGTGCCTGTCAGGCTCTTGCGGAAGTCCATGCGCCA
TTGGGAGGGCCTCGGCCGCGGCTCTGTGCCCTTGCTGCTGAGGGCCACTTCCTGGGTCATTCCTGGACCGGGAGCCGGGCTGGGGCTCAC
ACGGGGGCTCCCGCGTGGCCGTCTCGGCGCCTGCGTGACCTCCCCGCCGGCGGGATGTGGCGACTACGTCGGGCCGCTGTGGCCTGTGAG
GTCTGCCAGTCTTTAGTGAAACACAGCTCTGGAATAAAAGGAAGTTTACCACTACAAAAACTACATCTGGTTTCACGAAGCATTTATCAT
TCACATCATCCTACCTTAAAGCTTCAACGACCCCAATTAAGGACATCCTTTCAGCAGTTCTCTTCTCTGACAAACCTTCCTTTACGTAAA
CTGAAATTCTCTCCAATTAAATATGGCTACCAGCCTCGCAGGAATTTTTGGCCAGCAAGATTAGCTACGAGACTCTTAAAACTTCGCTAT
CTCATACTAGGATCGGCTGTTGGGGGTGGCTACACAGCCAAAAAGACTTTTGATCAGTGGAAAGATATGATACCGGACCTTAGTGAATAT
AAATGGATTGTGCCTGACATTGTGTGGGAAATTGATGAGTATATCGATTTTGAGAAAATTAGAAAAGCCCTTCCTAGTTCAGAAGACCTT
GTAAAGTTAGCACCAGACTTTGACAAGATTGTTGAAAGCCTTAGCTTATTGAAGGACTTTTTTACCTCAGGTTCTCCGGAAGAAACGGCG
TTTAGAGCAACAGATCGTGGATCTGAAAGTGACAAGCATTTTAGAAAGGGTCTGCTTGGTGAGCTCATTCTCTTACAACAACAAATTCAA
GAGCATGAAGAGGAAGCGCGCAGAGCCGCTGGCCAATATAGCACGAGCTATGCCCAACAGAAGCGCAAGGTGTCAGACAAAGAGAAAATT
GACCAACTTCAGGAAGAACTTCTGCACACTCAGTTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAGAACAAAGAATTGAGAAAA
TTAGTATTGCAGAAAGATGACAAAGGCATTCATCATAGAAAGCTTAAGAAATCTTTGATTGACATGTATTCTGAAGTTCTTGATGTTCTC
TCTGATTATGATGCCAGTTATAATACGCAAGATCATCTGCCACGGGTTGTTGTGGTTGGAGATCAGAGTGCTGGAAAGACTAGTGTGTTG
GAAATGATTGCCCAAGCTCGAATATTCCCAAGAGGATCTGGGGAGATGATGACACGTTCTCCAGTTAAGGTGACTCTGAGTGAAGGTCCT
CACCATGTGGCCCTATTTAAAGATAGTTCTCGGGAGTTTGATCTTACCAAAGAAGAAGATCTTGCAGCATTAAGACATGAAATAGAACTT
CGAATGAGGAAAAATGTGAAAGAAGGCTGTACCGTTAGCCCTGAGACCATATCCTTAAATGTAAAAGGCCCTGGACTACAGAGGATGGTG
CTTGTTGACTTACCAGGTGTGATTAATACTGTGACATCAGGCATGGCTCCTGACACAAAGGAAACTATTTTCAGTATCAGCAAAGCTTAC
ATGCAGAATCCTAATGCCATCATACTGTGTATTCAAGATGGATCTGTGGATGCTGAACGCAGTATTGTTACAGACTTGGTCAGTCAAATG
GACCCTCATGGAAGGAGAACCATATTCGTTTTGACCAAAGTAGACCTGGCAGAGAAAAATGTAGCCAGTCCAAGCAGGATTCAGCAGATA
ATTGAAGGAAAGCTCTTCCCAATGAAAGCTTTAGGTTATTTTGCTGTTGTAACAGGAAAAGGGAACAGCTCTGAAAGCATTGAAGCTATA
AGAGAATATGAAGAAGAGTTTTTTCAGAATTCAAAGCTCCTAAAGACAAGCATGCTAAAGGCACACCAAGTGACTACAAGAAATTTAAGC
CTTGCAGTATCAGACTGCTTTTGGAAAATGGTACGAGAGTCTGTTGAACAACAGGCTGATAGTTTCAAAGCAACACGTTTTAACCTTGAA
ACTGAATGGAAGAATAACTATCCTCGCCTGCGGGAACTTGACCGGAATGAACTATTTGAAAAAGCTAAAAATGAAATCCTTGATGAAGTT
ATCAGTCTGAGCCAGGTTACACCAAAACATTGGGAGGAAATCCTTCAACAATCTTTGTGGGAAAGAGTATCAACTCATGTGATTGAAAAC
ATCTACCTTCCAGCTGCGCAGACCATGAATTCAGGAACTTTTAACACCACAGTGGATATCAAGCTTAAACAGTGGACTGATAAACAACTT
CCTAATAAAGCAGTAGAGGTTGCTTGGGAGACCCTACAAGAAGAATTTTCCCGCTTTATGACAGAACCGAAAGGGAAAGAGCATGATGAC
ATATTTGATAAACTTAAAGAGGCTGTTAAGGAAGAAAGTATTAAACGACACAAGTGGAATGACTTTGCGGAGGACAGCTTGAGGGTTATT
CAACACAATGCTTTGGAAGACCGATCCATATCTGATAAACAGCAATGGGATGCAGCTATTTATTTTATGGAAGAGGCTCTGCAGGCTCGT
CTCAAGGATACTGAAAATGCAATTGAAAACATGGTGGGTCCAGACTGGAAAAAGAGGTGGTTATACTGGAAGAATCGGACCCAAGAACAG
TGTGTTCACAATGAAACCAAGAATGAATTGGAGAAGATGTTGAAATGTAATGAGGAGCACCCAGCTTATCTTGCAAGTGATGAAATAACC
ACAGTCCGGAAGAACCTTGAATCCCGAGGAGTAGAAGTAGATCCAAGCTTGATTAAGGATACTTGGCATCAAGTTTATAGAAGACATTTT
TTAAAAACAGCTCTAAACCATTGTAACCTTTGTCGAAGAGGTTTTTATTACTACCAAAGGCATTTTGTAGATTCTGAGTTGGAATGCAAT
GATGTGGTCTTGTTTTGGCGTATACAGCGCATGCTTGCTATCACCGCAAATACTTTAAGGCAACAACTTACAAATACTGAAGTTAGGCGA
TTAGAGAAAAATGTTAAAGAGGTATTGGAAGATTTTGCTGAAGATGGTGAGAAGAAGATTAAATTGCTTACTGGTAAACGCGTTCAACTG
GCGGAAGACCTCACTTTGAAGATTATGAAACAGATGAACCTGCCTCTCCCTCTGAATTTGGAAACAAAAGCAATAAAATATTAAGTGCAA
GCCTTCCAGAGAAATGTGGAAAGCTTCAATCAGTGGATGAAGAATAGCTGCCGGTGTCTACAATGAAACGAAGATGTGTATTTTAAATGT
TTCTTTCTTGTGAAGAGATGTTCTCGTTTGCATACTGCTTTTTAAAGACTTTGATTTCTCCAAGTGTGTATCATCTGCACTAGGAACTTT

>In-frame_OPA1_ENST00000392438_chr3_193385069_+_PPP2R3A_ENST00000490467_chr3_135863885_+_3394nt
GTGCTGCCCGCCTAGAAAGGGTGAAGTGGTTGTTTCCGTGACGGACTGAGTACGGGTGCCTGTCAGGCTCTTGCGGAAGTCCATGCGCCA
TTGGGAGGGCCTCGGCCGCGGCTCTGTGCCCTTGCTGCTGAGGGCCACTTCCTGGGTCATTCCTGGACCGGGAGCCGGGCTGGGGCTCAC
ACGGGGGCTCCCGCGTGGCCGTCTCGGCGCCTGCGTGACCTCCCCGCCGGCGGGATGTGGCGACTACGTCGGGCCGCTGTGGCCTGTGAG
GTCTGCCAGTCTTTAGTGAAACACAGCTCTGGAATAAAAGGAAGTTTACCACTACAAAAACTACATCTGGTTTCACGAAGCATTTATCAT
TCACATCATCCTACCTTAAAGCTTCAACGACCCCAATTAAGGACATCCTTTCAGCAGTTCTCTTCTCTGACAAACCTTCCTTTACGTAAA
CTGAAATTCTCTCCAATTAAATATGGCTACCAGCCTCGCAGGAATTTTTGGCCAGCAAGATTAGCTACGAGACTCTTAAAACTTCGCTAT
CTCATACTAGGATCGGCTGTTGGGGGTGGCTACACAGCCAAAAAGACTTTTGATCAGTGGAAAGATATGATACCGGACCTTAGTGAATAT
AAATGGATTGTGCCTGACATTGTGTGGGAAATTGATGAGTATATCGATTTTGAGAAAATTAGAAAAGCCCTTCCTAGTTCAGAAGACCTT
GTAAAGTTAGCACCAGACTTTGACAAGATTGTTGAAAGCCTTAGCTTATTGAAGGACTTTTTTACCTCAGGTTCTCCGGAAGAAACGGCG
TTTAGAGCAACAGATCGTGGATCTGAAAGTGACAAGCATTTTAGAAAGGTGTCAGACAAAGAGAAAATTGACCAACTTCAGGAAGAACTT
CTGCACACTCAGTTGAAGTATCAGAGAATCTTGGAACGATTAGAAAAGGAGAACAAAGAATTGAGAAAATTAGTATTGCAGAAAGATGAC
AAAGGCATTCATCATAGAAAGCTTAAGAAATCTTTGATTGACATGTATTCTGAAGTTCTTGATGTTCTCTCTGATTATGATGCCAGTTAT
AATACGCAAGATCATCTGCCACGGGTTGTTGTGGTTGGAGATCAGAGTGCTGGAAAGACTAGTGTGTTGGAAATGATTGCCCAAGCTCGA
ATATTCCCAAGAGGATCTGGGGAGATGATGACACGTTCTCCAGTTAAGGTGACTCTGAGTGAAGGTCCTCACCATGTGGCCCTATTTAAA
GATAGTTCTCGGGAGTTTGATCTTACCAAAGAAGAAGATCTTGCAGCATTAAGACATGAAATAGAACTTCGAATGAGGAAAAATGTGAAA
GAAGGCTGTACCGTTAGCCCTGAGACCATATCCTTAAATGTAAAAGGCCCTGGACTACAGAGGATGGTGCTTGTTGACTTACCAGGTGTG
ATTAATACTGTGACATCAGGCATGGCTCCTGACACAAAGGAAACTATTTTCAGTATCAGCAAAGCTTACATGCAGAATCCTAATGCCATC
ATACTGTGTATTCAAGATGGATCTGTGGATGCTGAACGCAGTATTGTTACAGACTTGGTCAGTCAAATGGACCCTCATGGAAGGAGAACC
ATATTCGTTTTGACCAAAGTAGACCTGGCAGAGAAAAATGTAGCCAGTCCAAGCAGGATTCAGCAGATAATTGAAGGAAAGCTCTTCCCA
ATGAAAGCTTTAGGTTATTTTGCTGTTGTAACAGGAAAAGGGAACAGCTCTGAAAGCATTGAAGCTATAAGAGAATATGAAGAAGAGTTT
TTTCAGAATTCAAAGCTCCTAAAGACAAGCATGCTAAAGGCACACCAAGTGACTACAAGAAATTTAAGCCTTGCAGTATCAGACTGCTTT
TGGAAAATGGTACGAGAGTCTGTTGAACAACAGGCTGATAGTTTCAAAGCAACACGTTTTAACCTTGAAACTGAATGGAAGAATAACTAT
CCTCGCCTGCGGGAACTTGACCGGAATGAACTATTTGAAAAAGCTAAAAATGAAATCCTTGATGAAGTTATCAGTCTGAGCCAGGTTACA
CCAAAACATTGGGAGGAAATCCTTCAACAATCTTTGTGGGAAAGAGTATCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCGCAG
ACCATGAATTCAGGAACTTTTAACACCACAGTGGATATCAAGCTTAAACAGTGGACTGATAAACAACTTCCTAATAAAGCAGTAGAGGTT
GCTTGGGAGACCCTACAAGAAGAATTTTCCCGCTTTATGACAGAACCGAAAGGGAAAGAGCATGATGACATATTTGATAAACTTAAAGAG
GCTGTTAAGGAAGAAAGTATTAAACGACACAAGTGGAATGACTTTGCGGAGGACAGCTTGAGGGTTATTCAACACAATGCTTTGGAAGAC
CGATCCATATCTGATAAACAGCAATGGGATGCAGCTATTTATTTTATGGAAGAGGCTCTGCAGGCTCGTCTCAAGGATACTGAAAATGCA
ATTGAAAACATGGTGGGTCCAGACTGGAAAAAGAGGTGGTTATACTGGAAGAATCGGACCCAAGAACAGTGTGTTCACAATGAAACCAAG
AATGAATTGGAGAAGATGTTGAAATGTAATGAGGAGCACCCAGCTTATCTTGCAAGTGATGAAATAACCACAGTCCGGAAGAACCTTGAA
TCCCGAGGAGTAGAAGTAGATCCAAGCTTGATTAAGGATACTTGGCATCAAGTTTATAGAAGACATTTTTTAAAAACAGCTCTAAACCAT
TGTAACCTTTGTCGAAGAGGTTTTTATTACTACCAAAGGCATTTTGTAGATTCTGAGTTGGAATGCAATGATGTGGTCTTGTTTTGGCGT
ATACAGCGCATGCTTGCTATCACCGCAAATACTTTAAGGCAACAACTTACAAATACTGAAGTTAGGCGATTAGAGAAAAATGTTAAAGAG
GTATTGGAAGATTTTGCTGAAGATGGTGAGAAGAAGATTAAATTGCTTACTGGTAAACGCGTTCAACTGGCGGAAGACCTCACTTTGAAG
ATTATGAAACAGATGAACCTGCCTCTCCCTCTGAATTTGGAAACAAAAGCAATAAAATATTAAGTGCAAGCCTTCCAGAGAAATGTGGAA
AGCTTCAATCAGTGGATGAAGAATAGCTGCCGGTGTCTACAATGAAACGAAGATGTGTATTTTAAATGTTTCTTTCTTGTGAAGAGATGT
TCTCGTTTGCATACTGCTTTTTAAAGACTTTGATTTCTCCAAGTGTGTATCATCTGCACTAGGAACTTTGTTTTTAAGCAATAGGTCTGG


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FusionGenePPI for OPA1_PPP2R3A


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
OPA1MME, ELAVL1, CUL3, CAND1, SMAD2, SMAD3, APP, ILF3, NDUFS8, DNASE2, ECH1, NDUFS1, NIT2, HSP90AA5P, NDUFA9, HADHB, NPTX1, HTRA2, MYC, PARK2, EGFR, BNIP3, PRDX3, SCGN, SCN2B, UNK, ARHGAP17, EEF2, EHD1, NTRK1, XRCC3, MCM2, COQ9, PTPN7, VIPR2, FAM196A, NPY2R, PTH1R, FAM174A, EPHA1, GID8PPP2R3APPP2CA, RBL1, CDC6, PPP2R4, EGFR, ATXN7L2, SFRP4, CDK17, ATR, PPP2R1A, ESR1, PCGF1, NANOG, POU5F1, TPTE2, LPP, LIMD1, ZNF785, ZFC3H1, PPP2R1B, GTSE1, TROAP, CEP170, WTIP, ZNF580


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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RelatedDrugs for OPA1_PPP2R3A


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

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RelatedDiseases for OPA1_PPP2R3A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneOPA1C0338508Optic Atrophy, Autosomal Dominant21CTD_human;ORPHANET;UNIPROT
HgeneOPA1C3276549OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY10UNIPROT
HgeneOPA1C0036341Schizophrenia2PSYGENET
HgeneOPA1C0029408Degenerative polyarthritis1CTD_human
HgeneOPA1C0221061Behr syndrome1ORPHANET;UNIPROT
HgeneOPA1C4225163MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)1UNIPROT