Fusion Gene Studies
in Kim Lab

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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:FXN-SMC5 (FusionGDB2 ID:HG2395TG23137)

Fusion Gene Summary for FXN-SMC5

check button Fusion gene summary
Fusion gene informationFusion gene name: FXN-SMC5
Fusion gene ID: hg2395tg23137
HgeneTgene
Gene symbol

FXN

SMC5

Gene ID

2395

23137

Gene namefrataxinstructural maintenance of chromosomes 5
SynonymsCyaY|FA|FARR|FRDA|X25SMC5L1
Cytomap('FXN')('SMC5')

9q21.11

9q21.12

Type of geneprotein-codingprotein-coding
Descriptionfrataxin, mitochondrialFriedreich ataxia proteinstructural maintenance of chromosomes protein 5SMC protein 5SMC-5SMC5 structural maintenance of chromosomes 5-like 1hSMC5
Modification date2020031520200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000377270, ENST00000396364, 
ENST00000396366, ENST00000498653, 
Fusion gene scores* DoF score3 X 2 X 3=185 X 5 X 4=100
# samples 36
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FXN [Title/Abstract] AND SMC5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFXN(71679951)-SMC5(72879220), # samples:2
Anticipated loss of major functional domain due to fusion event.FXN-SMC5 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
FXN-SMC5 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
FXN-SMC5 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
FXN-SMC5 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
FXN-SMC5 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneFXN

GO:0010722

regulation of ferrochelatase activity

15123683

HgeneFXN

GO:0016226

iron-sulfur cluster assembly

29491838

HgeneFXN

GO:0016540

protein autoprocessing

12785837

HgeneFXN

GO:0018283

iron incorporation into metallo-sulfur cluster

12785837

HgeneFXN

GO:0051349

positive regulation of lyase activity

20053667

HgeneFXN

GO:0070301

cellular response to hydrogen peroxide

15641778

TgeneSMC5

GO:0006974

cellular response to DNA damage stimulus

11408570|25931565


check buttonFusion gene breakpoints across FXN (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across SMC5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-AO-A124-01AFXNchr9

71679951

+SMC5chr9

72879220

+


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Fusion Gene ORF analysis for FXN-SMC5

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000377270ENST00000471372FXNchr9

71679951

+SMC5chr9

72879220

+
5CDS-intronENST00000396364ENST00000471372FXNchr9

71679951

+SMC5chr9

72879220

+
5CDS-intronENST00000396366ENST00000471372FXNchr9

71679951

+SMC5chr9

72879220

+
5CDS-intronENST00000498653ENST00000471372FXNchr9

71679951

+SMC5chr9

72879220

+
Frame-shiftENST00000396366ENST00000361138FXNchr9

71679951

+SMC5chr9

72879220

+
In-frameENST00000377270ENST00000361138FXNchr9

71679951

+SMC5chr9

72879220

+
In-frameENST00000396364ENST00000361138FXNchr9

71679951

+SMC5chr9

72879220

+
In-frameENST00000498653ENST00000361138FXNchr9

71679951

+SMC5chr9

72879220

+

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)
ENST00000396364FXNchr971679951+ENST00000361138SMC5chr972879220+638070222038221200
ENST00000377270FXNchr971679951+ENST00000361138SMC5chr972879220+6684100652441261200
ENST00000498653FXNchr971679951+ENST00000361138SMC5chr972879220+60403623334821149

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
ENST00000396364ENST00000361138FXNchr971679951+SMC5chr972879220+0.0003298630.99967015
ENST00000377270ENST00000361138FXNchr971679951+SMC5chr972879220+0.0004617280.9995383
ENST00000498653ENST00000361138FXNchr971679951+SMC5chr972879220+0.0003121380.9996879

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Fusion Genomic Features for FXN-SMC5


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)
FXNchr971679951+SMC5chr972879219+4.37E-050.99995625
FXNchr971679951+SMC5chr972879219+4.37E-050.99995625

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

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

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Fusion Protein Features for FXN-SMC5


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr9:71679951/chr9:72879220)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

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

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSMC5chr9:71679951chr9:72879220ENST00000361138025207_445611102.0Coiled coilOntology_term=ECO:0000255
TgeneSMC5chr9:71679951chr9:72879220ENST00000361138025647_828611102.0Coiled coilOntology_term=ECO:0000255
TgeneSMC5chr9:71679951chr9:72879220ENST00000361138025888_927611102.0Coiled coilOntology_term=ECO:0000255
TgeneSMC5chr9:71679951chr9:72879220ENST00000361138025991_1026611102.0Compositional biasNote=Ala/Asp-rich (DA-box)
TgeneSMC5chr9:71679951chr9:72879220ENST0000036113802580_87611102.0Nucleotide bindingATP
TgeneSMC5chr9:71679951chr9:72879220ENST00000361138025446_646611102.0RegionNote=Flexible hinge

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


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Fusion Gene Sequence for FXN-SMC5


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.
>31866_31866_1_FXN-SMC5_FXN_chr9_71679951_ENST00000377270_SMC5_chr9_72879220_ENST00000361138_length(transcript)=6684nt_BP=1006nt
TTTACAGGGCTTAACTCATTTTATCCTTACCACAATCCTATGAAGTAGGAACTTTTATAAAACGCATTTTATAAACAAGGCACAGAGAGG
TTAATTAACTTGCCCTCTGGTCACACAGCTAGGAAGTGGGCAGAGTACAGATTTACACAAGGCATCCGTCTCCTGGCCCCACATACCCAA
CTGCTGTAAACCCATACCGGCGGCCAAGCAGCCTCAATTTGTGCATGCACCCACTTCCCAGCAAGACAGCAGCTCCCAAGTTCCTCCTGT
TTAGAATTTTAGAAGCGGCGGGCCACCAGGCTGCAGTCTCCCTTGGGTCAGGGGTCCTGGTTGCACTCCGTGCTTTGCACAAAGCAGGCT
CTCCATTTTTGTTAAATGCACGAATAGTGCTAAGCTGGGAAGTTCTTCCTGAGGTCTAACCTCTAGCTGCTCCCCCACAGAAGAGTGCCT
GCGGCCAGTGGCCACCAGGGGTCGCCGCAGCACCCAGCGCTGGAGGGCGGAGCGGGCGGCAGACCCGGAGCAGCATGTGGACTCTCGGGC
GCCGCGCAGTAGCCGGCCTCCTGGCGTCACCCAGCCCAGCCCAGGCCCAGACCCTCACCCGGGTCCCGCGGCCGGCAGAGTTGGCCCCAC
TCTGCGGCCGCCGTGGCCTGCGCACCGACATCGATGCGACCTGCACGCCCCGCCGCGCAAGTTCGAACCAACGTGGCCTCAACCAGATTT
GGAATGTCAAAAAGCAGAGTGTCTATTTGATGAATTTGAGGAAATCTGGAACTTTGGGCCACCCAGGCTCTCTAGATGAGACCACCTATG
AAAGACTAGCAGAGGAAACGCTGGACTCTTTAGCAGAGTTTTTTGAAGACCTTGCAGACAAGCCATACACGTTTGAGGACTATGATGTCT
CCTTTGGGAGTGGTGTCTTAACTGTCAAACTGGGTGGAGATCTAGGAACCTATGTGATCAACAAGCAGACGCCAAACAAGCAAATCTGGC
TATCTTCTCCATCCAGAACATATGATATTTGTGAAGTATCTCCTGGACCCCACTTGAATATGATCGTTGGAGCCAATGGAACAGGGAAGT
CGAGCATTGTGTGTGCCATTTGCCTTGGTTTAGCTGGAAAACCTGCTTTCATGGGACGAGCAGATAAGGTTGGGTTTTTTGTGAAGAGAG
GATGTTCTAGAGGCATGGTTGAAATTGAATTGTTCAGGGCTTCTGGAAATCTTGTAATCACCCGTGAGATTGATGTGGCAAAAAATCAGT
CCTTTTGGTTCATCAACAAAAAATCTACAACCCAGAAAATAGTGGAAGAGAAAGTTGCAGCCTTAAATATTCAAGTGGGGAATCTTTGCC
AGTTTCTCCCTCAGGACAAAGTTGGAGAATTTGCTAAACTCAGCAAAATTGAACTCCTCGAAGCCACTGAAAAGTCAATTGGTCCCCCAG
AAATGCACAAATATCACTGTGAACTCAAAAACTTAAGGGAGAAAGAAAAACAGCTCGAGACCTCATGCAAAGAGAAAACTGAGTATCTAC
AGAAAATGGTTCAGAGGAATGAAAGATATAAACAAGATGTGGAGAGGTTCTATGAACGGAAGCGACATTTAGATTTAATTGAGATGCTTG
AAGCAAAAAGGCCATGGGTGGAATATGAAAATGTTCGTCAGGAATATGAAGAAGTAAAACTAGTTCGTGACCGAGTGAAGGAAGAGGTCA
GAAAACTTAAAGAAGGGCAGATTCCTGTAACATGTCGAATTGAAGAAATGGAAAACGAGCGTCACAATTTGGAGGCTCGAATCAAAGAAA
AGGCAACAGATATTAAGGAGGCATCTCAAAAATGCAAACAGAAGCAAGATGTTATAGAAAGGAAAGATAAACATATTGAGGAACTTCAGC
AGGCTTTAATAGTAAAGCAAAATGAAGAGCTTGACCGACAGAGGAGAATAGGTAATACCCGCAAAATGATAGAGGATTTGCAAAATGAAC
TAAAGACCACGGAAAACTGCGAGAATCTTCAGCCCCAGATTGATGCCATTACAAATGATCTGAGACGGATTCAGGATGAAAAGGCATTAT
GTGAAGGCGAAATAATTGATAAGCGAAGAGAGAGGGAAACTCTAGAGAAGGAGAAAAAGAGTGTGGACGATCATATTGTACGTTTTGACA
ATCTTATGAATCAGAAGGAAGATAAGCTAAGACAGAGATTCCGTGACACGTATGATGCTGTTTTATGGCTAAGAAATAACAGAGACAAAT
TTAAACAAAGAGTCTGTGAGCCCATAATGCTCACGATCAATATGAAAGATAATAAAAATGCCAAATATATTGAAAATCATATTCCATCAA
ATGACTTAAGAGCCTTTGTATTTGAAAGTCAAGAAGATATGGAGGTTTTCCTCAAAGAGGTTCGTGACAATAAAAAATTAAGAGTAAATG
CTGTTATTGCTCCCAAGAGTTCATATGCAGACAAAGCACCTTCAAGATCTTTGAATGAACTTAAACAATACGGATTTTTCTCTTATTTGA
GAGAATTATTTGATGCACCTGATCCTGTAATGAGTTACCTTTGCTGTCAGTATCATATTCATGAAGTTCCTGTAGGAACTGAAAAGACCA
GAGAAAGAATTGAACGGGTAATACAAGAAACCCGATTAAAACAGATTTATACAGCAGAAGAAAAGTATGTGGTGAAAACTTCTTTTTATT
CAAACAAAGTTATTTCTAGTAACACATCTCTAAAAGTAGCGCAGTTTCTCACTGTCACTGTGGACCTAGAGCAGAGAAGACACTTAGAAG
AACAGCTAAAGGAAATTCATAGAAAATTGCAAGCAGTGGATTCAGGGTTGATTGCCTTACGTGAAACAAGCAAACATCTGGAGCACAAAG
ACAATGAACTTAGACAAAAGAAGAAGGAGCTTCTTGAGAGAAAAACCAAGAAAAGACAACTGGAACAAAAAATCAGTTCCAAACTAGGAA
GTTTAAAGCTGATGGAACAGGATACTTGCAATCTTGAAGAGGAAGAGCGAAAAGCAAGTACCAAAATCAAAGAAATAAATGTTCAAAAAG
CGAAACTTGTTACCGAATTAACAAACCTAATAAAGATTTGTACTTCTTTGCATATACAAAAAGTAGATTTAATTCTCCAAAATACTACAG
TGATCTCTGAGAAGAACAAATTAGAATCAGATTATATGGCCGCATCTTCACAACTCCGTCTTACAGAGCAACATTTCATTGAATTGGATG
AAAATAGACAGAGATTATTGCAGAAATGCAAGGAACTTATGAAAAGAGCTAGGCAAGTATGTAACCTGGGTGCAGAGCAGACTCTTCCTC
AAGAATACCAGACACAAGTACCCACCATTCCAAATGGACACAACTCCTCACTCCCCATGGTTTTCCAAGACCTTCCAAACACATTGGATG
AAATTGATGCTTTATTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAATTGTTCAGGAATATACAAAAAGAG
AAGAAGAAATAGAACAGTTAACTGAGGAACTAAAGGGAAAGAAAGTTGAACTAGATCAATACAGGGAAAACATTTCACAGGTAAAAGAAA
GGTGGCTTAATCCTTTAAAAGAGCTGGTAGAAAAAATTAATGAAAAATTCAGCAATTTTTTTAGTTCCATGCAGTGTGCTGGTGAAGTTG
ATCTCCATACAGAAAATGAGGAAGATTATGATAAATATGGAATTCGAATTAGAGTCAAATTTCGAAGTAGTACTCAACTGCATGAATTAA
CTCCTCATCATCAAAGTGGAGGTGAAAGAAGTGTTTCTACCATGTTATACTTGATGGCACTTCAGGAGCTAAATAGATGTCCATTCAGAG
TAGTTGATGAAATCAATCAGGGAATGGACCCAATCAATGAACGGAGAGTGTTTGAAATGGTTGTAAATACTGCCTGTAAAGAAAATACAT
CTCAATACTTTTTCATAACACCAAAGCTCCTGCAAAATCTTCCTTATTCTGAAAAGATGACAGTTTTGTTTGTCTACAATGGCCCTCATA
TGCTGGAACCAAACACATGGAATTTAAAGGCTTTCCAAAGGCGGCGGCGCCGTATTACATTCACTCAACCTTCTTAATAAAAGTAAAGAG
AGGGAACTTGGGAATTTTTTTTGTTAAATTCTGTTTATAAGTATGGCTCAACTGAATAAAAGGAGATTCACTAAAACGAAAAGCAGTTAT
TTTTGGAAACCTGCTTTTAAATACAAATAGGTTGATAATGGAAACTATAATGACCTTTCCAAAATAGCAGCTGGTAGTAAAAGTTAAGTC
TTCTTCAGTCTTGGTTGAACTTGAGTTCTTGGCACTCTGACCATGAGTCATTCAGTTCTCATGTTAAAATGTACTTAATATTACAAATCA
AAGGTACAGTGGAAGAAGGGTTAATCACAAGAAGTTACTTATATGGTAGCCCTGAGCTTTAATTGCAGAGTAACTTTAATTACTTTTAGA
GCCTAAAGATGACTCTAGAGCCTAAGTCCTAGTTTCTCCCAATGTTATATTTAATTTTAAAAAATTGATATGAAAATGTCTAATGTATAG
TAATAATTTATGACAGATCTAGTCATTTCTTCCTATTAAAAAAGATTACCTTATCTCCAGTAGGAAATGGAATTTTATGGGCCTTTAAAA
GAAAGTTTTATGAAACTTGATGCTATAATTTTATTGGTATTTCAAGGGGAAAAAAGCACTGGGGTTCAAAAATGGTAGCAGAACTGCTTT
GAAATGCTGCAAGGTGGCCACTAGATGATGCAAAATACAACCAAAAGATTGACTGAGAATAAAATTAGGTGACAAGGGTTTTTAAAGAAT
AACCTTTTAAAGTGTGGGGGCAGGGGTTGCTTTTTTTTATTTTATTTAAAGTCAATTATATTTTACATCTTACATTTCTAAAAGCATTTT
ATAATTATTTTTAGTAAGATTTTTCTTAAAATTTCATATACTGGTTTCTACAATTTATATTTGAAATTTCTCAGTGTTATGTAAAGAGTG
ATGGAAAAGCATTGATTTCTTTAAAACCGTAATGTTTTTAGAACTTAAGCCTATAGGGCCTTTCTTACAATGTTGATGTACCCATTATCT
TAGAAAATCTAGTTTAAACTGTTTTCTTTCACCGCAAAAGAATTAAATGGGAAAATCATTTGTTTATCTCTAAGTTATACTAATTAGTAG
AACCAAACAAATTATCTTCTTTTAAAAAATAAATCTTATAGGAAAATAGACAGTCCAAAGTCATGTCTTTGAACAGTGGATTGGATCTGT
GCCAGTAATGACAAAATTATTTTTTTGACTTGCTTGCCTGAATAAATTGAAGAATTGCTTTCAGTTTGGGTTTTGTATATTCTTAAGTAG
CCATTGAAATTTATATTCTTAACTAGGTCAAAAAATAATGAGCCATAAGTTTATGTCCTCTCACTTAGACATTTTCTCTTTAAAAAGGTA
TTTTCTTCTTTATAAACATTTTAAAAGAGCCTTCCCTTCTTAAACTAACTCCAGTGCATGAAGTGTGAAAATATTTTAAAATGACATTTT
TACTAATATGAGCAAGTCATGTAAACATTGAAGAACTTGGTAACATATTAGTAAATGGATATTACCAAATGTTTTCATCGTTAATTACTT
TGCGTTCCACCAAAATATCTTTACTAAAATGTGCTTGGTGTAGTTTGTTTATTGTCTAAATTAGTACCAGTCATCTTATTTCTGCAAAAT
GAGTATCAATGTGAAAAAGACACGTGAAGATTAAGCATGTTTGAAAATAAAATGGTCAATTACATTTCAATTTACATAGGCCAACAACTG
TTCCATACTTTGTTTGTAAACATTTAATTTCTCTACTGGACAAAATTAATATTTGGCTTTACATTGAATTTTGAGCTGTGAAGAATAAAT
TATGTATCATTTTAGCATATTAAACAGTAGTAAGTCTAGCACATAGTCTCAGCCACTTAAAACAAAAGTTTTTTTGTTTGTTTGTTTGTT
TGTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTACTGCAACCTCCGCCTCCCGGGTTC
AAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGACAACAGGCGCGTCCCACCACACCCAGCTAATTTTTTATACTTTTAGTAGAGA
TGGGGTTTCAGCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGC
GTGAGCCCCTGCACCCGGCCAAAAGTTGATTTTTAATTACATAAAAATCGTAAAAACTTCTAGTAAAAACTTGATTTGGTGAATACAGTT
ATATTTAAAAACCTTAAGGTGACAAGCATTTTCTATGCCTAAATCTTCATTGGTTTGCCTGGAAAGAGTCTCTGTTAAAAGATTTTCCAT
ATTCAAAGTAAAAGGAAAGATTTCTTGCTTTCTAATTGTCTTTTGGACACATGCCTATTTTCTTTGAGGTATAAACCTTTAGATGTGAAA
AATGTAATTTCATTCTGCTATTGTGTGTGCTTGTGTGTGTGTAATTGAAAAAACTGGGAAATCCTGCTTTGTTGGTAATAAATCAATATT

>31866_31866_1_FXN-SMC5_FXN_chr9_71679951_ENST00000377270_SMC5_chr9_72879220_ENST00000361138_length(amino acids)=1200AA_BP=0
MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQRGLNQIWNVKKQSVYLMNLRKSGTLGHPGSL
DETTYERLAEETLDSLAEFFEDLADKPYTFEDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPSRTYDICEVSPGPHLNMIVGA
NGTGKSSIVCAICLGLAGKPAFMGRADKVGFFVKRGCSRGMVEIELFRASGNLVITREIDVAKNQSFWFINKKSTTQKIVEEKVAALNIQ
VGNLCQFLPQDKVGEFAKLSKIELLEATEKSIGPPEMHKYHCELKNLREKEKQLETSCKEKTEYLQKMVQRNERYKQDVERFYERKRHLD
LIEMLEAKRPWVEYENVRQEYEEVKLVRDRVKEEVRKLKEGQIPVTCRIEEMENERHNLEARIKEKATDIKEASQKCKQKQDVIERKDKH
IEELQQALIVKQNEELDRQRRIGNTRKMIEDLQNELKTTENCENLQPQIDAITNDLRRIQDEKALCEGEIIDKRRERETLEKEKKSVDDH
IVRFDNLMNQKEDKLRQRFRDTYDAVLWLRNNRDKFKQRVCEPIMLTINMKDNKNAKYIENHIPSNDLRAFVFESQEDMEVFLKEVRDNK
KLRVNAVIAPKSSYADKAPSRSLNELKQYGFFSYLRELFDAPDPVMSYLCCQYHIHEVPVGTEKTRERIERVIQETRLKQIYTAEEKYVV
KTSFYSNKVISSNTSLKVAQFLTVTVDLEQRRHLEEQLKEIHRKLQAVDSGLIALRETSKHLEHKDNELRQKKKELLERKTKKRQLEQKI
SSKLGSLKLMEQDTCNLEEEERKASTKIKEINVQKAKLVTELTNLIKICTSLHIQKVDLILQNTTVISEKNKLESDYMAASSQLRLTEQH
FIELDENRQRLLQKCKELMKRARQVCNLGAEQTLPQEYQTQVPTIPNGHNSSLPMVFQDLPNTLDEIDALLTEERSRASCFTGLNPTIVQ
EYTKREEEIEQLTEELKGKKVELDQYRENISQVKERWLNPLKELVEKINEKFSNFFSSMQCAGEVDLHTENEEDYDKYGIRIRVKFRSST
QLHELTPHHQSGGERSVSTMLYLMALQELNRCPFRVVDEINQGMDPINERRVFEMVVNTACKENTSQYFFITPKLLQNLPYSEKMTVLFV

--------------------------------------------------------------
>31866_31866_2_FXN-SMC5_FXN_chr9_71679951_ENST00000396364_SMC5_chr9_72879220_ENST00000361138_length(transcript)=6380nt_BP=702nt
AGTCTCCCTTGGGTCAGGGGTCCTGGTTGCACTCCGTGCTTTGCACAAAGCAGGCTCTCCATTTTTGTTAAATGCACGAATAGTGCTAAG
CTGGGAAGTTCTTCCTGAGGTCTAACCTCTAGCTGCTCCCCCACAGAAGAGTGCCTGCGGCCAGTGGCCACCAGGGGTCGCCGCAGCACC
CAGCGCTGGAGGGCGGAGCGGGCGGCAGACCCGGAGCAGCATGTGGACTCTCGGGCGCCGCGCAGTAGCCGGCCTCCTGGCGTCACCCAG
CCCAGCCCAGGCCCAGACCCTCACCCGGGTCCCGCGGCCGGCAGAGTTGGCCCCACTCTGCGGCCGCCGTGGCCTGCGCACCGACATCGA
TGCGACCTGCACGCCCCGCCGCGCAAGTTCGAACCAACGTGGCCTCAACCAGATTTGGAATGTCAAAAAGCAGAGTGTCTATTTGATGAA
TTTGAGGAAATCTGGAACTTTGGGCCACCCAGGCTCTCTAGATGAGACCACCTATGAAAGACTAGCAGAGGAAACGCTGGACTCTTTAGC
AGAGTTTTTTGAAGACCTTGCAGACAAGCCATACACGTTTGAGGACTATGATGTCTCCTTTGGGAGTGGTGTCTTAACTGTCAAACTGGG
TGGAGATCTAGGAACCTATGTGATCAACAAGCAGACGCCAAACAAGCAAATCTGGCTATCTTCTCCATCCAGAACATATGATATTTGTGA
AGTATCTCCTGGACCCCACTTGAATATGATCGTTGGAGCCAATGGAACAGGGAAGTCGAGCATTGTGTGTGCCATTTGCCTTGGTTTAGC
TGGAAAACCTGCTTTCATGGGACGAGCAGATAAGGTTGGGTTTTTTGTGAAGAGAGGATGTTCTAGAGGCATGGTTGAAATTGAATTGTT
CAGGGCTTCTGGAAATCTTGTAATCACCCGTGAGATTGATGTGGCAAAAAATCAGTCCTTTTGGTTCATCAACAAAAAATCTACAACCCA
GAAAATAGTGGAAGAGAAAGTTGCAGCCTTAAATATTCAAGTGGGGAATCTTTGCCAGTTTCTCCCTCAGGACAAAGTTGGAGAATTTGC
TAAACTCAGCAAAATTGAACTCCTCGAAGCCACTGAAAAGTCAATTGGTCCCCCAGAAATGCACAAATATCACTGTGAACTCAAAAACTT
AAGGGAGAAAGAAAAACAGCTCGAGACCTCATGCAAAGAGAAAACTGAGTATCTACAGAAAATGGTTCAGAGGAATGAAAGATATAAACA
AGATGTGGAGAGGTTCTATGAACGGAAGCGACATTTAGATTTAATTGAGATGCTTGAAGCAAAAAGGCCATGGGTGGAATATGAAAATGT
TCGTCAGGAATATGAAGAAGTAAAACTAGTTCGTGACCGAGTGAAGGAAGAGGTCAGAAAACTTAAAGAAGGGCAGATTCCTGTAACATG
TCGAATTGAAGAAATGGAAAACGAGCGTCACAATTTGGAGGCTCGAATCAAAGAAAAGGCAACAGATATTAAGGAGGCATCTCAAAAATG
CAAACAGAAGCAAGATGTTATAGAAAGGAAAGATAAACATATTGAGGAACTTCAGCAGGCTTTAATAGTAAAGCAAAATGAAGAGCTTGA
CCGACAGAGGAGAATAGGTAATACCCGCAAAATGATAGAGGATTTGCAAAATGAACTAAAGACCACGGAAAACTGCGAGAATCTTCAGCC
CCAGATTGATGCCATTACAAATGATCTGAGACGGATTCAGGATGAAAAGGCATTATGTGAAGGCGAAATAATTGATAAGCGAAGAGAGAG
GGAAACTCTAGAGAAGGAGAAAAAGAGTGTGGACGATCATATTGTACGTTTTGACAATCTTATGAATCAGAAGGAAGATAAGCTAAGACA
GAGATTCCGTGACACGTATGATGCTGTTTTATGGCTAAGAAATAACAGAGACAAATTTAAACAAAGAGTCTGTGAGCCCATAATGCTCAC
GATCAATATGAAAGATAATAAAAATGCCAAATATATTGAAAATCATATTCCATCAAATGACTTAAGAGCCTTTGTATTTGAAAGTCAAGA
AGATATGGAGGTTTTCCTCAAAGAGGTTCGTGACAATAAAAAATTAAGAGTAAATGCTGTTATTGCTCCCAAGAGTTCATATGCAGACAA
AGCACCTTCAAGATCTTTGAATGAACTTAAACAATACGGATTTTTCTCTTATTTGAGAGAATTATTTGATGCACCTGATCCTGTAATGAG
TTACCTTTGCTGTCAGTATCATATTCATGAAGTTCCTGTAGGAACTGAAAAGACCAGAGAAAGAATTGAACGGGTAATACAAGAAACCCG
ATTAAAACAGATTTATACAGCAGAAGAAAAGTATGTGGTGAAAACTTCTTTTTATTCAAACAAAGTTATTTCTAGTAACACATCTCTAAA
AGTAGCGCAGTTTCTCACTGTCACTGTGGACCTAGAGCAGAGAAGACACTTAGAAGAACAGCTAAAGGAAATTCATAGAAAATTGCAAGC
AGTGGATTCAGGGTTGATTGCCTTACGTGAAACAAGCAAACATCTGGAGCACAAAGACAATGAACTTAGACAAAAGAAGAAGGAGCTTCT
TGAGAGAAAAACCAAGAAAAGACAACTGGAACAAAAAATCAGTTCCAAACTAGGAAGTTTAAAGCTGATGGAACAGGATACTTGCAATCT
TGAAGAGGAAGAGCGAAAAGCAAGTACCAAAATCAAAGAAATAAATGTTCAAAAAGCGAAACTTGTTACCGAATTAACAAACCTAATAAA
GATTTGTACTTCTTTGCATATACAAAAAGTAGATTTAATTCTCCAAAATACTACAGTGATCTCTGAGAAGAACAAATTAGAATCAGATTA
TATGGCCGCATCTTCACAACTCCGTCTTACAGAGCAACATTTCATTGAATTGGATGAAAATAGACAGAGATTATTGCAGAAATGCAAGGA
ACTTATGAAAAGAGCTAGGCAAGTATGTAACCTGGGTGCAGAGCAGACTCTTCCTCAAGAATACCAGACACAAGTACCCACCATTCCAAA
TGGACACAACTCCTCACTCCCCATGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATGCTTTATTAACTGAAGAAAGATCAAG
AGCTTCCTGCTTCACGGGACTGAATCCTACAATTGTTCAGGAATATACAAAAAGAGAAGAAGAAATAGAACAGTTAACTGAGGAACTAAA
GGGAAAGAAAGTTGAACTAGATCAATACAGGGAAAACATTTCACAGGTAAAAGAAAGGTGGCTTAATCCTTTAAAAGAGCTGGTAGAAAA
AATTAATGAAAAATTCAGCAATTTTTTTAGTTCCATGCAGTGTGCTGGTGAAGTTGATCTCCATACAGAAAATGAGGAAGATTATGATAA
ATATGGAATTCGAATTAGAGTCAAATTTCGAAGTAGTACTCAACTGCATGAATTAACTCCTCATCATCAAAGTGGAGGTGAAAGAAGTGT
TTCTACCATGTTATACTTGATGGCACTTCAGGAGCTAAATAGATGTCCATTCAGAGTAGTTGATGAAATCAATCAGGGAATGGACCCAAT
CAATGAACGGAGAGTGTTTGAAATGGTTGTAAATACTGCCTGTAAAGAAAATACATCTCAATACTTTTTCATAACACCAAAGCTCCTGCA
AAATCTTCCTTATTCTGAAAAGATGACAGTTTTGTTTGTCTACAATGGCCCTCATATGCTGGAACCAAACACATGGAATTTAAAGGCTTT
CCAAAGGCGGCGGCGCCGTATTACATTCACTCAACCTTCTTAATAAAAGTAAAGAGAGGGAACTTGGGAATTTTTTTTGTTAAATTCTGT
TTATAAGTATGGCTCAACTGAATAAAAGGAGATTCACTAAAACGAAAAGCAGTTATTTTTGGAAACCTGCTTTTAAATACAAATAGGTTG
ATAATGGAAACTATAATGACCTTTCCAAAATAGCAGCTGGTAGTAAAAGTTAAGTCTTCTTCAGTCTTGGTTGAACTTGAGTTCTTGGCA
CTCTGACCATGAGTCATTCAGTTCTCATGTTAAAATGTACTTAATATTACAAATCAAAGGTACAGTGGAAGAAGGGTTAATCACAAGAAG
TTACTTATATGGTAGCCCTGAGCTTTAATTGCAGAGTAACTTTAATTACTTTTAGAGCCTAAAGATGACTCTAGAGCCTAAGTCCTAGTT
TCTCCCAATGTTATATTTAATTTTAAAAAATTGATATGAAAATGTCTAATGTATAGTAATAATTTATGACAGATCTAGTCATTTCTTCCT
ATTAAAAAAGATTACCTTATCTCCAGTAGGAAATGGAATTTTATGGGCCTTTAAAAGAAAGTTTTATGAAACTTGATGCTATAATTTTAT
TGGTATTTCAAGGGGAAAAAAGCACTGGGGTTCAAAAATGGTAGCAGAACTGCTTTGAAATGCTGCAAGGTGGCCACTAGATGATGCAAA
ATACAACCAAAAGATTGACTGAGAATAAAATTAGGTGACAAGGGTTTTTAAAGAATAACCTTTTAAAGTGTGGGGGCAGGGGTTGCTTTT
TTTTATTTTATTTAAAGTCAATTATATTTTACATCTTACATTTCTAAAAGCATTTTATAATTATTTTTAGTAAGATTTTTCTTAAAATTT
CATATACTGGTTTCTACAATTTATATTTGAAATTTCTCAGTGTTATGTAAAGAGTGATGGAAAAGCATTGATTTCTTTAAAACCGTAATG
TTTTTAGAACTTAAGCCTATAGGGCCTTTCTTACAATGTTGATGTACCCATTATCTTAGAAAATCTAGTTTAAACTGTTTTCTTTCACCG
CAAAAGAATTAAATGGGAAAATCATTTGTTTATCTCTAAGTTATACTAATTAGTAGAACCAAACAAATTATCTTCTTTTAAAAAATAAAT
CTTATAGGAAAATAGACAGTCCAAAGTCATGTCTTTGAACAGTGGATTGGATCTGTGCCAGTAATGACAAAATTATTTTTTTGACTTGCT
TGCCTGAATAAATTGAAGAATTGCTTTCAGTTTGGGTTTTGTATATTCTTAAGTAGCCATTGAAATTTATATTCTTAACTAGGTCAAAAA
ATAATGAGCCATAAGTTTATGTCCTCTCACTTAGACATTTTCTCTTTAAAAAGGTATTTTCTTCTTTATAAACATTTTAAAAGAGCCTTC
CCTTCTTAAACTAACTCCAGTGCATGAAGTGTGAAAATATTTTAAAATGACATTTTTACTAATATGAGCAAGTCATGTAAACATTGAAGA
ACTTGGTAACATATTAGTAAATGGATATTACCAAATGTTTTCATCGTTAATTACTTTGCGTTCCACCAAAATATCTTTACTAAAATGTGC
TTGGTGTAGTTTGTTTATTGTCTAAATTAGTACCAGTCATCTTATTTCTGCAAAATGAGTATCAATGTGAAAAAGACACGTGAAGATTAA
GCATGTTTGAAAATAAAATGGTCAATTACATTTCAATTTACATAGGCCAACAACTGTTCCATACTTTGTTTGTAAACATTTAATTTCTCT
ACTGGACAAAATTAATATTTGGCTTTACATTGAATTTTGAGCTGTGAAGAATAAATTATGTATCATTTTAGCATATTAAACAGTAGTAAG
TCTAGCACATAGTCTCAGCCACTTAAAACAAAAGTTTTTTTGTTTGTTTGTTTGTTTGTTTTTTTGAGATGGAGTCTCACTCTGTTGCCC
AGGCTGGAGTGCAGTGGCGTGATCTCGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACT
GGGACAACAGGCGCGTCCCACCACACCCAGCTAATTTTTTATACTTTTAGTAGAGATGGGGTTTCAGCATATTGGCCAGGCTGGTCTCGA
ACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCCCTGCACCCGGCCAAAAGTTGATTTTT
AATTACATAAAAATCGTAAAAACTTCTAGTAAAAACTTGATTTGGTGAATACAGTTATATTTAAAAACCTTAAGGTGACAAGCATTTTCT
ATGCCTAAATCTTCATTGGTTTGCCTGGAAAGAGTCTCTGTTAAAAGATTTTCCATATTCAAAGTAAAAGGAAAGATTTCTTGCTTTCTA
ATTGTCTTTTGGACACATGCCTATTTTCTTTGAGGTATAAACCTTTAGATGTGAAAAATGTAATTTCATTCTGCTATTGTGTGTGCTTGT

>31866_31866_2_FXN-SMC5_FXN_chr9_71679951_ENST00000396364_SMC5_chr9_72879220_ENST00000361138_length(amino acids)=1200AA_BP=0
MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQRGLNQIWNVKKQSVYLMNLRKSGTLGHPGSL
DETTYERLAEETLDSLAEFFEDLADKPYTFEDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPSRTYDICEVSPGPHLNMIVGA
NGTGKSSIVCAICLGLAGKPAFMGRADKVGFFVKRGCSRGMVEIELFRASGNLVITREIDVAKNQSFWFINKKSTTQKIVEEKVAALNIQ
VGNLCQFLPQDKVGEFAKLSKIELLEATEKSIGPPEMHKYHCELKNLREKEKQLETSCKEKTEYLQKMVQRNERYKQDVERFYERKRHLD
LIEMLEAKRPWVEYENVRQEYEEVKLVRDRVKEEVRKLKEGQIPVTCRIEEMENERHNLEARIKEKATDIKEASQKCKQKQDVIERKDKH
IEELQQALIVKQNEELDRQRRIGNTRKMIEDLQNELKTTENCENLQPQIDAITNDLRRIQDEKALCEGEIIDKRRERETLEKEKKSVDDH
IVRFDNLMNQKEDKLRQRFRDTYDAVLWLRNNRDKFKQRVCEPIMLTINMKDNKNAKYIENHIPSNDLRAFVFESQEDMEVFLKEVRDNK
KLRVNAVIAPKSSYADKAPSRSLNELKQYGFFSYLRELFDAPDPVMSYLCCQYHIHEVPVGTEKTRERIERVIQETRLKQIYTAEEKYVV
KTSFYSNKVISSNTSLKVAQFLTVTVDLEQRRHLEEQLKEIHRKLQAVDSGLIALRETSKHLEHKDNELRQKKKELLERKTKKRQLEQKI
SSKLGSLKLMEQDTCNLEEEERKASTKIKEINVQKAKLVTELTNLIKICTSLHIQKVDLILQNTTVISEKNKLESDYMAASSQLRLTEQH
FIELDENRQRLLQKCKELMKRARQVCNLGAEQTLPQEYQTQVPTIPNGHNSSLPMVFQDLPNTLDEIDALLTEERSRASCFTGLNPTIVQ
EYTKREEEIEQLTEELKGKKVELDQYRENISQVKERWLNPLKELVEKINEKFSNFFSSMQCAGEVDLHTENEEDYDKYGIRIRVKFRSST
QLHELTPHHQSGGERSVSTMLYLMALQELNRCPFRVVDEINQGMDPINERRVFEMVVNTACKENTSQYFFITPKLLQNLPYSEKMTVLFV

--------------------------------------------------------------
>31866_31866_3_FXN-SMC5_FXN_chr9_71679951_ENST00000498653_SMC5_chr9_72879220_ENST00000361138_length(transcript)=6040nt_BP=362nt
AAGGAAAAGGGGACATTTTGTCCTGCGGTGCGACTGCGGGTCAAGAGTTCGAACCAACGTGGCCTCAACCAGATTTGGAATGTCAAAAAG
CAGAGTGTCTATTTGATGAATTTGAGGAAATCTGGAACTTTGGGCCACCCAGGCTCTCTAGATGAGACCACCTATGAAAGACTAGCAGAG
GAAACGCTGGACTCTTTAGCAGAGTTTTTTGAAGACCTTGCAGACAAGCCATACACGTTTGAGGACTATGATGTCTCCTTTGGGAGTGGT
GTCTTAACTGTCAAACTGGGTGGAGATCTAGGAACCTATGTGATCAACAAGCAGACGCCAAACAAGCAAATCTGGCTATCTTCTCCATCC
AGAACATATGATATTTGTGAAGTATCTCCTGGACCCCACTTGAATATGATCGTTGGAGCCAATGGAACAGGGAAGTCGAGCATTGTGTGT
GCCATTTGCCTTGGTTTAGCTGGAAAACCTGCTTTCATGGGACGAGCAGATAAGGTTGGGTTTTTTGTGAAGAGAGGATGTTCTAGAGGC
ATGGTTGAAATTGAATTGTTCAGGGCTTCTGGAAATCTTGTAATCACCCGTGAGATTGATGTGGCAAAAAATCAGTCCTTTTGGTTCATC
AACAAAAAATCTACAACCCAGAAAATAGTGGAAGAGAAAGTTGCAGCCTTAAATATTCAAGTGGGGAATCTTTGCCAGTTTCTCCCTCAG
GACAAAGTTGGAGAATTTGCTAAACTCAGCAAAATTGAACTCCTCGAAGCCACTGAAAAGTCAATTGGTCCCCCAGAAATGCACAAATAT
CACTGTGAACTCAAAAACTTAAGGGAGAAAGAAAAACAGCTCGAGACCTCATGCAAAGAGAAAACTGAGTATCTACAGAAAATGGTTCAG
AGGAATGAAAGATATAAACAAGATGTGGAGAGGTTCTATGAACGGAAGCGACATTTAGATTTAATTGAGATGCTTGAAGCAAAAAGGCCA
TGGGTGGAATATGAAAATGTTCGTCAGGAATATGAAGAAGTAAAACTAGTTCGTGACCGAGTGAAGGAAGAGGTCAGAAAACTTAAAGAA
GGGCAGATTCCTGTAACATGTCGAATTGAAGAAATGGAAAACGAGCGTCACAATTTGGAGGCTCGAATCAAAGAAAAGGCAACAGATATT
AAGGAGGCATCTCAAAAATGCAAACAGAAGCAAGATGTTATAGAAAGGAAAGATAAACATATTGAGGAACTTCAGCAGGCTTTAATAGTA
AAGCAAAATGAAGAGCTTGACCGACAGAGGAGAATAGGTAATACCCGCAAAATGATAGAGGATTTGCAAAATGAACTAAAGACCACGGAA
AACTGCGAGAATCTTCAGCCCCAGATTGATGCCATTACAAATGATCTGAGACGGATTCAGGATGAAAAGGCATTATGTGAAGGCGAAATA
ATTGATAAGCGAAGAGAGAGGGAAACTCTAGAGAAGGAGAAAAAGAGTGTGGACGATCATATTGTACGTTTTGACAATCTTATGAATCAG
AAGGAAGATAAGCTAAGACAGAGATTCCGTGACACGTATGATGCTGTTTTATGGCTAAGAAATAACAGAGACAAATTTAAACAAAGAGTC
TGTGAGCCCATAATGCTCACGATCAATATGAAAGATAATAAAAATGCCAAATATATTGAAAATCATATTCCATCAAATGACTTAAGAGCC
TTTGTATTTGAAAGTCAAGAAGATATGGAGGTTTTCCTCAAAGAGGTTCGTGACAATAAAAAATTAAGAGTAAATGCTGTTATTGCTCCC
AAGAGTTCATATGCAGACAAAGCACCTTCAAGATCTTTGAATGAACTTAAACAATACGGATTTTTCTCTTATTTGAGAGAATTATTTGAT
GCACCTGATCCTGTAATGAGTTACCTTTGCTGTCAGTATCATATTCATGAAGTTCCTGTAGGAACTGAAAAGACCAGAGAAAGAATTGAA
CGGGTAATACAAGAAACCCGATTAAAACAGATTTATACAGCAGAAGAAAAGTATGTGGTGAAAACTTCTTTTTATTCAAACAAAGTTATT
TCTAGTAACACATCTCTAAAAGTAGCGCAGTTTCTCACTGTCACTGTGGACCTAGAGCAGAGAAGACACTTAGAAGAACAGCTAAAGGAA
ATTCATAGAAAATTGCAAGCAGTGGATTCAGGGTTGATTGCCTTACGTGAAACAAGCAAACATCTGGAGCACAAAGACAATGAACTTAGA
CAAAAGAAGAAGGAGCTTCTTGAGAGAAAAACCAAGAAAAGACAACTGGAACAAAAAATCAGTTCCAAACTAGGAAGTTTAAAGCTGATG
GAACAGGATACTTGCAATCTTGAAGAGGAAGAGCGAAAAGCAAGTACCAAAATCAAAGAAATAAATGTTCAAAAAGCGAAACTTGTTACC
GAATTAACAAACCTAATAAAGATTTGTACTTCTTTGCATATACAAAAAGTAGATTTAATTCTCCAAAATACTACAGTGATCTCTGAGAAG
AACAAATTAGAATCAGATTATATGGCCGCATCTTCACAACTCCGTCTTACAGAGCAACATTTCATTGAATTGGATGAAAATAGACAGAGA
TTATTGCAGAAATGCAAGGAACTTATGAAAAGAGCTAGGCAAGTATGTAACCTGGGTGCAGAGCAGACTCTTCCTCAAGAATACCAGACA
CAAGTACCCACCATTCCAAATGGACACAACTCCTCACTCCCCATGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATGCTTTA
TTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAATTGTTCAGGAATATACAAAAAGAGAAGAAGAAATAGAA
CAGTTAACTGAGGAACTAAAGGGAAAGAAAGTTGAACTAGATCAATACAGGGAAAACATTTCACAGGTAAAAGAAAGGTGGCTTAATCCT
TTAAAAGAGCTGGTAGAAAAAATTAATGAAAAATTCAGCAATTTTTTTAGTTCCATGCAGTGTGCTGGTGAAGTTGATCTCCATACAGAA
AATGAGGAAGATTATGATAAATATGGAATTCGAATTAGAGTCAAATTTCGAAGTAGTACTCAACTGCATGAATTAACTCCTCATCATCAA
AGTGGAGGTGAAAGAAGTGTTTCTACCATGTTATACTTGATGGCACTTCAGGAGCTAAATAGATGTCCATTCAGAGTAGTTGATGAAATC
AATCAGGGAATGGACCCAATCAATGAACGGAGAGTGTTTGAAATGGTTGTAAATACTGCCTGTAAAGAAAATACATCTCAATACTTTTTC
ATAACACCAAAGCTCCTGCAAAATCTTCCTTATTCTGAAAAGATGACAGTTTTGTTTGTCTACAATGGCCCTCATATGCTGGAACCAAAC
ACATGGAATTTAAAGGCTTTCCAAAGGCGGCGGCGCCGTATTACATTCACTCAACCTTCTTAATAAAAGTAAAGAGAGGGAACTTGGGAA
TTTTTTTTGTTAAATTCTGTTTATAAGTATGGCTCAACTGAATAAAAGGAGATTCACTAAAACGAAAAGCAGTTATTTTTGGAAACCTGC
TTTTAAATACAAATAGGTTGATAATGGAAACTATAATGACCTTTCCAAAATAGCAGCTGGTAGTAAAAGTTAAGTCTTCTTCAGTCTTGG
TTGAACTTGAGTTCTTGGCACTCTGACCATGAGTCATTCAGTTCTCATGTTAAAATGTACTTAATATTACAAATCAAAGGTACAGTGGAA
GAAGGGTTAATCACAAGAAGTTACTTATATGGTAGCCCTGAGCTTTAATTGCAGAGTAACTTTAATTACTTTTAGAGCCTAAAGATGACT
CTAGAGCCTAAGTCCTAGTTTCTCCCAATGTTATATTTAATTTTAAAAAATTGATATGAAAATGTCTAATGTATAGTAATAATTTATGAC
AGATCTAGTCATTTCTTCCTATTAAAAAAGATTACCTTATCTCCAGTAGGAAATGGAATTTTATGGGCCTTTAAAAGAAAGTTTTATGAA
ACTTGATGCTATAATTTTATTGGTATTTCAAGGGGAAAAAAGCACTGGGGTTCAAAAATGGTAGCAGAACTGCTTTGAAATGCTGCAAGG
TGGCCACTAGATGATGCAAAATACAACCAAAAGATTGACTGAGAATAAAATTAGGTGACAAGGGTTTTTAAAGAATAACCTTTTAAAGTG
TGGGGGCAGGGGTTGCTTTTTTTTATTTTATTTAAAGTCAATTATATTTTACATCTTACATTTCTAAAAGCATTTTATAATTATTTTTAG
TAAGATTTTTCTTAAAATTTCATATACTGGTTTCTACAATTTATATTTGAAATTTCTCAGTGTTATGTAAAGAGTGATGGAAAAGCATTG
ATTTCTTTAAAACCGTAATGTTTTTAGAACTTAAGCCTATAGGGCCTTTCTTACAATGTTGATGTACCCATTATCTTAGAAAATCTAGTT
TAAACTGTTTTCTTTCACCGCAAAAGAATTAAATGGGAAAATCATTTGTTTATCTCTAAGTTATACTAATTAGTAGAACCAAACAAATTA
TCTTCTTTTAAAAAATAAATCTTATAGGAAAATAGACAGTCCAAAGTCATGTCTTTGAACAGTGGATTGGATCTGTGCCAGTAATGACAA
AATTATTTTTTTGACTTGCTTGCCTGAATAAATTGAAGAATTGCTTTCAGTTTGGGTTTTGTATATTCTTAAGTAGCCATTGAAATTTAT
ATTCTTAACTAGGTCAAAAAATAATGAGCCATAAGTTTATGTCCTCTCACTTAGACATTTTCTCTTTAAAAAGGTATTTTCTTCTTTATA
AACATTTTAAAAGAGCCTTCCCTTCTTAAACTAACTCCAGTGCATGAAGTGTGAAAATATTTTAAAATGACATTTTTACTAATATGAGCA
AGTCATGTAAACATTGAAGAACTTGGTAACATATTAGTAAATGGATATTACCAAATGTTTTCATCGTTAATTACTTTGCGTTCCACCAAA
ATATCTTTACTAAAATGTGCTTGGTGTAGTTTGTTTATTGTCTAAATTAGTACCAGTCATCTTATTTCTGCAAAATGAGTATCAATGTGA
AAAAGACACGTGAAGATTAAGCATGTTTGAAAATAAAATGGTCAATTACATTTCAATTTACATAGGCCAACAACTGTTCCATACTTTGTT
TGTAAACATTTAATTTCTCTACTGGACAAAATTAATATTTGGCTTTACATTGAATTTTGAGCTGTGAAGAATAAATTATGTATCATTTTA
GCATATTAAACAGTAGTAAGTCTAGCACATAGTCTCAGCCACTTAAAACAAAAGTTTTTTTGTTTGTTTGTTTGTTTGTTTTTTTGAGAT
GGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTG
CCTCAGCCTCCCAAGTAACTGGGACAACAGGCGCGTCCCACCACACCCAGCTAATTTTTTATACTTTTAGTAGAGATGGGGTTTCAGCAT
ATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCCCTGCAC
CCGGCCAAAAGTTGATTTTTAATTACATAAAAATCGTAAAAACTTCTAGTAAAAACTTGATTTGGTGAATACAGTTATATTTAAAAACCT
TAAGGTGACAAGCATTTTCTATGCCTAAATCTTCATTGGTTTGCCTGGAAAGAGTCTCTGTTAAAAGATTTTCCATATTCAAAGTAAAAG
GAAAGATTTCTTGCTTTCTAATTGTCTTTTGGACACATGCCTATTTTCTTTGAGGTATAAACCTTTAGATGTGAAAAATGTAATTTCATT
CTGCTATTGTGTGTGCTTGTGTGTGTGTAATTGAAAAAACTGGGAAATCCTGCTTTGTTGGTAATAAATCAATATTTTTATATTCTTTTG

>31866_31866_3_FXN-SMC5_FXN_chr9_71679951_ENST00000498653_SMC5_chr9_72879220_ENST00000361138_length(amino acids)=1149AA_BP=4
MRVKSSNQRGLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTFEDYDVSFGSGVLTVKLGGDLG
TYVINKQTPNKQIWLSSPSRTYDICEVSPGPHLNMIVGANGTGKSSIVCAICLGLAGKPAFMGRADKVGFFVKRGCSRGMVEIELFRASG
NLVITREIDVAKNQSFWFINKKSTTQKIVEEKVAALNIQVGNLCQFLPQDKVGEFAKLSKIELLEATEKSIGPPEMHKYHCELKNLREKE
KQLETSCKEKTEYLQKMVQRNERYKQDVERFYERKRHLDLIEMLEAKRPWVEYENVRQEYEEVKLVRDRVKEEVRKLKEGQIPVTCRIEE
MENERHNLEARIKEKATDIKEASQKCKQKQDVIERKDKHIEELQQALIVKQNEELDRQRRIGNTRKMIEDLQNELKTTENCENLQPQIDA
ITNDLRRIQDEKALCEGEIIDKRRERETLEKEKKSVDDHIVRFDNLMNQKEDKLRQRFRDTYDAVLWLRNNRDKFKQRVCEPIMLTINMK
DNKNAKYIENHIPSNDLRAFVFESQEDMEVFLKEVRDNKKLRVNAVIAPKSSYADKAPSRSLNELKQYGFFSYLRELFDAPDPVMSYLCC
QYHIHEVPVGTEKTRERIERVIQETRLKQIYTAEEKYVVKTSFYSNKVISSNTSLKVAQFLTVTVDLEQRRHLEEQLKEIHRKLQAVDSG
LIALRETSKHLEHKDNELRQKKKELLERKTKKRQLEQKISSKLGSLKLMEQDTCNLEEEERKASTKIKEINVQKAKLVTELTNLIKICTS
LHIQKVDLILQNTTVISEKNKLESDYMAASSQLRLTEQHFIELDENRQRLLQKCKELMKRARQVCNLGAEQTLPQEYQTQVPTIPNGHNS
SLPMVFQDLPNTLDEIDALLTEERSRASCFTGLNPTIVQEYTKREEEIEQLTEELKGKKVELDQYRENISQVKERWLNPLKELVEKINEK
FSNFFSSMQCAGEVDLHTENEEDYDKYGIRIRVKFRSSTQLHELTPHHQSGGERSVSTMLYLMALQELNRCPFRVVDEINQGMDPINERR

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

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Fusion Gene PPI Analysis for FXN-SMC5


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 FXN-SMC5


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 FXN-SMC5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFXNC0016719Friedreich Ataxia18CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneFXNC1856689FRIEDREICH ATAXIA 110CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFXNC0004138Ataxias, Hereditary1GENOMICS_ENGLAND
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human