|
||||||
|
 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:FXN-SMC5 (FusionGDB2 ID:HG2395TG23137) |
Fusion Gene Summary for FXN-SMC5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FXN-SMC5 | Fusion gene ID: hg2395tg23137 | Hgene | Tgene | Gene symbol | FXN | SMC5 | Gene ID | 2395 | 23137 |
| Gene name | frataxin | structural maintenance of chromosomes 5 | |
| Synonyms | CyaY|FA|FARR|FRDA|X25 | SMC5L1 | |
| Cytomap | ('FXN')('SMC5') 9q21.11 | 9q21.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | frataxin, mitochondrialFriedreich ataxia protein | structural maintenance of chromosomes protein 5SMC protein 5SMC-5SMC5 structural maintenance of chromosomes 5-like 1hSMC5 | |
| Modification date | 20200315 | 20200313 | |
| UniProtAcc | . | . | |
| Ensembl transtripts involved in fusion gene | ENST00000377270, ENST00000396364, ENST00000396366, ENST00000498653, | ||
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 5 X 5 X 4=100 |
| # samples | 3 | 6 | |
| ** MAII score | log2(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 breakpoint | FXN(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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | FXN | GO:0010722 | regulation of ferrochelatase activity | 15123683 |
| Hgene | FXN | GO:0016226 | iron-sulfur cluster assembly | 29491838 |
| Hgene | FXN | GO:0016540 | protein autoprocessing | 12785837 |
| Hgene | FXN | GO:0018283 | iron incorporation into metallo-sulfur cluster | 12785837 |
| Hgene | FXN | GO:0051349 | positive regulation of lyase activity | 20053667 |
| Hgene | FXN | GO:0070301 | cellular response to hydrogen peroxide | 15641778 |
| Tgene | SMC5 | GO:0006974 | cellular response to DNA damage stimulus | 11408570|25931565 |
| Fusion 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. |
 |
| Fusion 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. |
 |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BRCA | TCGA-AO-A124-01A | FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879220 | + |
Top |
Fusion Gene ORF analysis for FXN-SMC5 |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-intron | ENST00000377270 | ENST00000471372 | FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879220 | + |
| 5CDS-intron | ENST00000396364 | ENST00000471372 | FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879220 | + |
| 5CDS-intron | ENST00000396366 | ENST00000471372 | FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879220 | + |
| 5CDS-intron | ENST00000498653 | ENST00000471372 | FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879220 | + |
| Frame-shift | ENST00000396366 | ENST00000361138 | FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879220 | + |
| In-frame | ENST00000377270 | ENST00000361138 | FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879220 | + |
| In-frame | ENST00000396364 | ENST00000361138 | FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879220 | + |
| In-frame | ENST00000498653 | ENST00000361138 | FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879220 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000396364 | FXN | chr9 | 71679951 | + | ENST00000361138 | SMC5 | chr9 | 72879220 | + | 6380 | 702 | 220 | 3822 | 1200 |
| ENST00000377270 | FXN | chr9 | 71679951 | + | ENST00000361138 | SMC5 | chr9 | 72879220 | + | 6684 | 1006 | 524 | 4126 | 1200 |
| ENST00000498653 | FXN | chr9 | 71679951 | + | ENST00000361138 | SMC5 | chr9 | 72879220 | + | 6040 | 362 | 33 | 3482 | 1149 |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000396364 | ENST00000361138 | FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879220 | + | 0.000329863 | 0.99967015 |
| ENST00000377270 | ENST00000361138 | FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879220 | + | 0.000461728 | 0.9995383 |
| ENST00000498653 | ENST00000361138 | FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879220 | + | 0.000312138 | 0.9996879 |
Top |
Fusion Genomic Features for FXN-SMC5 |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879219 | + | 4.37E-05 | 0.99995625 |
| FXN | chr9 | 71679951 | + | SMC5 | chr9 | 72879219 | + | 4.37E-05 | 0.99995625 |
| Distribution 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. |
 |
| Distribution 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. |
 |
Top |
Fusion Protein Features for FXN-SMC5 |
| 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. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | . |
| 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}. |
| Retention 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 * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Tgene | SMC5 | chr9:71679951 | chr9:72879220 | ENST00000361138 | 0 | 25 | 207_445 | 61 | 1102.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | SMC5 | chr9:71679951 | chr9:72879220 | ENST00000361138 | 0 | 25 | 647_828 | 61 | 1102.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | SMC5 | chr9:71679951 | chr9:72879220 | ENST00000361138 | 0 | 25 | 888_927 | 61 | 1102.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | SMC5 | chr9:71679951 | chr9:72879220 | ENST00000361138 | 0 | 25 | 991_1026 | 61 | 1102.0 | Compositional bias | Note=Ala/Asp-rich (DA-box) | |
| Tgene | SMC5 | chr9:71679951 | chr9:72879220 | ENST00000361138 | 0 | 25 | 80_87 | 61 | 1102.0 | Nucleotide binding | ATP | |
| Tgene | SMC5 | chr9:71679951 | chr9:72879220 | ENST00000361138 | 0 | 25 | 446_646 | 61 | 1102.0 | Region | Note=Flexible hinge |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
Fusion Gene Sequence for FXN-SMC5 |
| 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 TTTATATTCTTTTGGTGTATGTTA >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 YNGPHMLEPNTWNLKAFQRRRRRITFTQPS -------------------------------------------------------------- >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 GTGTGTGTAATTGAAAAAACTGGGAAATCCTGCTTTGTTGGTAATAAATCAATATTTTTATATTCTTTTGGTGTATGTTA >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 YNGPHMLEPNTWNLKAFQRRRRRITFTQPS -------------------------------------------------------------- >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 GTGTATGTTA >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 VFEMVVNTACKENTSQYFFITPKLLQNLPYSEKMTVLFVYNGPHMLEPNTWNLKAFQRRRRRITFTQPS -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for FXN-SMC5 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for FXN-SMC5 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for FXN-SMC5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FXN | C0016719 | Friedreich Ataxia | 18 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | FXN | C1856689 | FRIEDREICH ATAXIA 1 | 10 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | FXN | C0004138 | Ataxias, Hereditary | 1 | GENOMICS_ENGLAND |
| Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies