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Fusion gene ID: 34873 |
FusionGeneSummary for SMCHD1_NDC80 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMCHD1_NDC80 | Fusion gene ID: 34873 | Hgene | Tgene | Gene symbol | SMCHD1 | NDC80 | Gene ID | 23347 | 10403 |
| Gene name | structural maintenance of chromosomes flexible hinge domain containing 1 | NDC80, kinetochore complex component | |
| Synonyms | BAMS|FSHD2 | HEC|HEC1|HsHec1|KNTC2|TID3|hsNDC80 | |
| Cytomap | 18p11.32 | 18p11.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | structural maintenance of chromosomes flexible hinge domain-containing protein 1SMC hinge domain-containing protein 1 | kinetochore protein NDC80 homologNDC80 homolog, kinetochore complex componentNDC80 kinetochore complex component homologhighly expressed in cancer proteinhighly expressed in cancer, rich in leucine heptad repeatskinetochore associated 2kinetochore p | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | A6NHR9 | O14777 | |
| Ensembl transtripts involved in fusion gene | ENST00000320876, ENST00000261598, ENST00000609587, | ENST00000261597, | |
| Fusion gene scores | * DoF score | 4 X 6 X 6=144 | 3 X 5 X 5=75 |
| # samples | 7 | 6 | |
| ** MAII score | log2(7/144*10)=-1.04064198449735 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMCHD1 [Title/Abstract] AND NDC80 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | BLCA | TCGA-ZF-A9RD-01A | SMCHD1 | chr18 | 2656260 | + | NDC80 | chr18 | 2599018 | + |
| TCGA | RV | LUAD | TCGA-62-A46U-01A | SMCHD1 | chr18 | 2688745 | + | NDC80 | chr18 | 2585112 | + |
| TCGA | RV | SARC | TCGA-IF-A4AJ-01A | SMCHD1 | chr18 | 2732490 | + | NDC80 | chr18 | 2599018 | + |
| TCGA | RV | UCEC | TCGA-2E-A9G8-01A | SMCHD1 | chr18 | 2656260 | + | NDC80 | chr18 | 2601395 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| In-frame | ENST00000320876 | ENST00000261597 | SMCHD1 | chr18 | 2656260 | + | NDC80 | chr18 | 2599018 | + |
| In-frame | ENST00000261598 | ENST00000261597 | SMCHD1 | chr18 | 2656260 | + | NDC80 | chr18 | 2599018 | + |
| intron-3CDS | ENST00000609587 | ENST00000261597 | SMCHD1 | chr18 | 2656260 | + | NDC80 | chr18 | 2599018 | + |
| In-frame | ENST00000320876 | ENST00000261597 | SMCHD1 | chr18 | 2688745 | + | NDC80 | chr18 | 2585112 | + |
| In-frame | ENST00000261598 | ENST00000261597 | SMCHD1 | chr18 | 2688745 | + | NDC80 | chr18 | 2585112 | + |
| intron-3CDS | ENST00000609587 | ENST00000261597 | SMCHD1 | chr18 | 2688745 | + | NDC80 | chr18 | 2585112 | + |
| In-frame | ENST00000320876 | ENST00000261597 | SMCHD1 | chr18 | 2732490 | + | NDC80 | chr18 | 2599018 | + |
| In-frame | ENST00000261598 | ENST00000261597 | SMCHD1 | chr18 | 2732490 | + | NDC80 | chr18 | 2599018 | + |
| intron-3CDS | ENST00000609587 | ENST00000261597 | SMCHD1 | chr18 | 2732490 | + | NDC80 | chr18 | 2599018 | + |
| In-frame | ENST00000320876 | ENST00000261597 | SMCHD1 | chr18 | 2656260 | + | NDC80 | chr18 | 2601395 | + |
| In-frame | ENST00000261598 | ENST00000261597 | SMCHD1 | chr18 | 2656260 | + | NDC80 | chr18 | 2601395 | + |
| intron-3CDS | ENST00000609587 | ENST00000261597 | SMCHD1 | chr18 | 2656260 | + | NDC80 | chr18 | 2601395 | + |
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FusionProtFeatures for SMCHD1_NDC80 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMCHD1 | NDC80 |
| Required for maintenance of X inactivation in femalesand hypermethylation of CpG islands associated with inactive X.Involved in a pathway that mediates the methylation of a subset ofCpG islands slowly and requires the methyltransferase DNMT3B (Bysimilarity). Required for DUX4 silencing in somatic cells(PubMed:23143600). {ECO:0000250|UniProtKB:Q6P5D8,ECO:0000269|PubMed:23143600}. | Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosomesegregation and spindle checkpoint activity (PubMed:9315664,PubMed:12351790, PubMed:14654001, PubMed:14699129,PubMed:15062103, PubMed:15235793, PubMed:15239953,PubMed:15548592, PubMed:16732327). Required for kinetochoreintegrity and the organization of stable microtubule binding sitesin the outer plate of the kinetochore (PubMed:15548592). The NDC80complex synergistically enhances the affinity of the SKA1 complexfor microtubules and may allow the NDC80 complex to trackdepolymerizing microtubules (PubMed:23085020). Plays a role inchromosome congression and is essential for the end-on attachmentof the kinetochores to spindle microtubules (PubMed:25743205,PubMed:23891108). {ECO:0000269|PubMed:12351790,ECO:0000269|PubMed:14654001, ECO:0000269|PubMed:14699129,ECO:0000269|PubMed:15062103, ECO:0000269|PubMed:15235793,ECO:0000269|PubMed:15239953, ECO:0000269|PubMed:15548592,ECO:0000269|PubMed:16732327, ECO:0000269|PubMed:23085020,ECO:0000269|PubMed:23891108, ECO:0000269|PubMed:25743205,ECO:0000269|PubMed:9315664}. |
| 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 |
| Hgene | SMCHD1 | chr18:2732490 | chr18:2599018 | ENST00000261598 | + | 25 | 46 | 111_702 | 1092 | 1918 | Region | ATPase activity domain |
| Hgene | SMCHD1 | chr18:2732490 | chr18:2599018 | ENST00000320876 | + | 25 | 48 | 111_702 | 1092 | 2006 | Region | ATPase activity domain |
| Tgene | >NDC80 | chr18:2656260 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 458_642 | 407 | 643 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | >NDC80 | chr18:2656260 | chr18:2601395 | ENST00000261597 | + | 11 | 17 | 458_642 | 458 | 643 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | >NDC80 | chr18:2688745 | chr18:2585112 | ENST00000261597 | + | 5 | 17 | 261_403 | 193 | 643 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | >NDC80 | chr18:2688745 | chr18:2585112 | ENST00000261597 | + | 5 | 17 | 458_642 | 193 | 643 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | >NDC80 | chr18:2732490 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 458_642 | 407 | 643 | Coiled coil | Ontology_term=ECO:0000255 |
| - 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 |
| Hgene | >SMCHD1 | chr18:2656260 | chr18:2599018 | ENST00000261598 | + | 1 | 46 | 111_702 | 62 | 1918 | Region | ATPase activity domain |
| Hgene | >SMCHD1 | chr18:2656260 | chr18:2599018 | ENST00000320876 | + | 1 | 48 | 111_702 | 62 | 2006 | Region | ATPase activity domain |
| Hgene | >SMCHD1 | chr18:2656260 | chr18:2601395 | ENST00000261598 | + | 1 | 46 | 111_702 | 62 | 1918 | Region | ATPase activity domain |
| Hgene | >SMCHD1 | chr18:2656260 | chr18:2601395 | ENST00000320876 | + | 1 | 48 | 111_702 | 62 | 2006 | Region | ATPase activity domain |
| Hgene | >SMCHD1 | chr18:2688745 | chr18:2585112 | ENST00000261598 | + | 7 | 46 | 111_702 | 291 | 1918 | Region | ATPase activity domain |
| Hgene | >SMCHD1 | chr18:2688745 | chr18:2585112 | ENST00000320876 | + | 7 | 48 | 111_702 | 291 | 2006 | Region | ATPase activity domain |
| Tgene | NDC80 | chr18:2656260 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 261_403 | 407 | 643 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | NDC80 | chr18:2656260 | chr18:2601395 | ENST00000261597 | + | 11 | 17 | 261_403 | 458 | 643 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | NDC80 | chr18:2732490 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 261_403 | 407 | 643 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | NDC80 | chr18:2656260 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 1_250 | 407 | 643 | Region | Note=Nuclear localization |
| Tgene | NDC80 | chr18:2656260 | chr18:2601395 | ENST00000261597 | + | 11 | 17 | 1_250 | 458 | 643 | Region | Note=Nuclear localization |
| Tgene | NDC80 | chr18:2688745 | chr18:2585112 | ENST00000261597 | + | 5 | 17 | 1_250 | 193 | 643 | Region | Note=Nuclear localization |
| Tgene | NDC80 | chr18:2732490 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 1_250 | 407 | 643 | Region | Note=Nuclear localization |
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FusionGeneSequence for SMCHD1_NDC80 |
| 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_SMCHD1_ENST00000320876_chr18_2688745_+_NDC80_ENST00000261597_chr18_2585112_+_741aa MAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEITCDNFDET VKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFDETQGKPAV AVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDVHELVLSKE DFEKKEKNKEAIYSGYIRNRKIHTAMKESSPLFDDGQPWGEETEDGIMHNKLFLDYTIKCYESFMSGADSFDEMNAELQSKLKDLFNVDA FKLESLEAKNRALNEQIARLEQEREKEPNRLESLRKLKASLQGDVQKYQAYMSNLESHSAILDQKLNGLNEEIARVELECETIKQENTRL QNIIDNQKYSVADIERINHERNELQQTINKLTKDLEAEQQKLWNEELKYARGKEAIETQLAEYHKLARKLKLIPKGAENSKGYDFEIKFN PEAGANCLVKYRAQVYVPLKELLNETEEEINKALNKKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEEDEKCASEL ESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLVVQTTTEERRKVGNNLQRLLEMVATHVGSVEKHLEEQIAKVDREYEECMSEDLSEN >In-frame_SMCHD1_ENST00000261598_chr18_2688745_+_NDC80_ENST00000261597_chr18_2585112_+_741aa MAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEITCDNFDET VKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFDETQGKPAV AVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDVHELVLSKE DFEKKEKNKEAIYSGYIRNRKIHTAMKESSPLFDDGQPWGEETEDGIMHNKLFLDYTIKCYESFMSGADSFDEMNAELQSKLKDLFNVDA FKLESLEAKNRALNEQIARLEQEREKEPNRLESLRKLKASLQGDVQKYQAYMSNLESHSAILDQKLNGLNEEIARVELECETIKQENTRL QNIIDNQKYSVADIERINHERNELQQTINKLTKDLEAEQQKLWNEELKYARGKEAIETQLAEYHKLARKLKLIPKGAENSKGYDFEIKFN PEAGANCLVKYRAQVYVPLKELLNETEEEINKALNKKMGLEDTLEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEEDEKCASEL ESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLVVQTTTEERRKVGNNLQRLLEMVATHVGSVEKHLEEQIAKVDREYEECMSEDLSEN >In-frame_SMCHD1_ENST00000320876_chr18_2732490_+_NDC80_ENST00000261597_chr18_2599018_+_1328aa MAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEITCDNFDET VKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFDETQGKPAV AVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDVHELVLSKE DFEKKEKNKEAIYSGYIRNRKPSDSVHITNDDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHYYIHGPKGN EIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDRETYPDDPCFPSKLK DEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNT LFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLPLFYGSIVR FFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRI EILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRPLP SKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGK NYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYVVDCSSSGT SILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGERE INITSALAEKIKIETQLAEYHKLARKLKLIPKGAENSKGYDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALNKKMGLEDT LEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEEDEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLVVQTTTEER >In-frame_SMCHD1_ENST00000261598_chr18_2732490_+_NDC80_ENST00000261597_chr18_2599018_+_1328aa MAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEITCDNFDET VKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFDETQGKPAV AVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDVHELVLSKE DFEKKEKNKEAIYSGYIRNRKPSDSVHITNDDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHYYIHGPKGN EIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGDGVVEGIIRYHPFLYDRETYPDDPCFPSKLK DEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNT LFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLPLFYGSIVR FFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRI EILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRPLP SKAIKFSVKEGKPEKFSFGLLDLPFRVGVPFNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGK NYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPVYVVDCSSSGT SILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGERE INITSALAEKIKIETQLAEYHKLARKLKLIPKGAENSKGYDFEIKFNPEAGANCLVKYRAQVYVPLKELLNETEEEINKALNKKMGLEDT LEQLNAMITESKRSVRTLKEEVQKLDDLYQQKIKEAEEEDEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQLVVQTTTEER |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SMCHD1_ENST00000320876_chr18_2688745_+_NDC80_ENST00000261597_chr18_2585112_+_2223nt ATGGCAGCGGCGGACGGCGGCGGGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACGGTGTACTTG TTTGATCGGCGCGAAAAGGAGTCCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGCGCGTGTGTG TGTCAGACACTTGGCATTTCACCTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTTGATGAAACT GTTAAAGATGGAGTCACCTTATACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTCTTACCTCAC TATGACACACTGGTTAAAAGTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAATTAATTGAC AATTCATTGTCTGCTACTTCTCGTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAACCTGCTGTT GCAGTGATAGATAATGGAAGAGGAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGGCAAGGTGAC TTTGAAAGTGATCATTCAGGATATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTTGGGGGCAAG CAAGCTGTCTTCTTTGTTGGACAATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTTTCTAAAGAA GATTTTGAGAAGAAGGAGAAAAATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGATACATACTGCCATGAAAGAAAGCTCA CCTTTATTTGATGATGGGCAGCCTTGGGGAGAAGAAACTGAAGATGGAATTATGCATAATAAGTTGTTTTTGGACTACACCATAAAATGC TATGAGAGTTTTATGAGTGGTGCCGACAGCTTTGATGAGATGAATGCAGAGCTGCAGTCAAAACTGAAGGATTTATTTAATGTGGATGCT TTTAAGCTGGAATCATTAGAAGCAAAAAACAGAGCATTGAATGAACAGATTGCAAGATTGGAACAAGAAAGAGAAAAAGAACCGAATCGT CTAGAGTCGTTGAGAAAACTGAAGGCTTCCTTACAAGGAGATGTTCAAAAGTATCAGGCATACATGAGCAATTTGGAGTCTCATTCAGCC ATTCTTGACCAGAAATTAAATGGTCTCAATGAGGAAATTGCTAGAGTAGAACTAGAATGTGAAACAATAAAACAGGAGAACACTCGACTA CAGAATATCATTGACAACCAGAAGTACTCAGTTGCAGACATTGAGCGAATAAATCATGAAAGAAATGAATTGCAGCAGACTATTAATAAA TTAACCAAGGACCTGGAAGCTGAACAACAGAAGTTGTGGAATGAGGAGTTAAAATATGCCAGAGGCAAAGAAGCGATTGAAACACAATTA GCAGAGTATCACAAATTGGCTAGAAAATTAAAACTTATTCCTAAAGGTGCTGAGAATTCCAAAGGTTATGACTTTGAAATTAAGTTTAAT CCCGAGGCTGGTGCCAACTGCCTTGTCAAATACAGGGCTCAAGTTTATGTACCTCTTAAGGAACTCCTGAATGAAACTGAAGAAGAAATT AATAAAGCCCTAAATAAAAAAATGGGTTTGGAGGATACTTTAGAACAATTGAATGCAATGATAACAGAAAGCAAGAGAAGTGTGAGAACT CTGAAAGAAGAAGTTCAAAAGCTGGATGATCTTTACCAACAAAAAATTAAGGAAGCAGAGGAAGAGGATGAAAAATGTGCCAGTGAGCTT GAGTCCTTGGAGAAACACAAGCACCTGCTAGAAAGTACTGTTAACCAGGGGCTCAGTGAAGCTATGAATGAATTAGATGCTGTTCAGCGG GAATACCAACTAGTTGTGCAAACCACGACTGAAGAAAGACGAAAAGTGGGAAATAACTTGCAACGTCTGTTAGAGATGGTTGCTACACAT GTTGGGTCTGTAGAGAAACATCTTGAGGAGCAGATTGCTAAAGTTGATAGAGAATATGAAGAATGCATGTCAGAAGATCTCTCGGAAAAT >In-frame_SMCHD1_ENST00000261598_chr18_2688745_+_NDC80_ENST00000261597_chr18_2585112_+_2223nt ATGGCAGCGGCGGACGGCGGCGGGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACGGTGTACTTG TTTGATCGGCGCGAAAAGGAGTCCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGCGCGTGTGTG TGTCAGACACTTGGCATTTCACCTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTTGATGAAACT GTTAAAGATGGAGTCACCTTATACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTCTTACCTCAC TATGACACACTGGTTAAAAGTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAATTAATTGAC AATTCATTGTCTGCTACTTCTCGTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAACCTGCTGTT GCAGTGATAGATAATGGAAGAGGAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGGCAAGGTGAC TTTGAAAGTGATCATTCAGGATATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTTGGGGGCAAG CAAGCTGTCTTCTTTGTTGGACAATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTTTCTAAAGAA GATTTTGAGAAGAAGGAGAAAAATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGATACATACTGCCATGAAAGAAAGCTCA CCTTTATTTGATGATGGGCAGCCTTGGGGAGAAGAAACTGAAGATGGAATTATGCATAATAAGTTGTTTTTGGACTACACCATAAAATGC TATGAGAGTTTTATGAGTGGTGCCGACAGCTTTGATGAGATGAATGCAGAGCTGCAGTCAAAACTGAAGGATTTATTTAATGTGGATGCT TTTAAGCTGGAATCATTAGAAGCAAAAAACAGAGCATTGAATGAACAGATTGCAAGATTGGAACAAGAAAGAGAAAAAGAACCGAATCGT CTAGAGTCGTTGAGAAAACTGAAGGCTTCCTTACAAGGAGATGTTCAAAAGTATCAGGCATACATGAGCAATTTGGAGTCTCATTCAGCC ATTCTTGACCAGAAATTAAATGGTCTCAATGAGGAAATTGCTAGAGTAGAACTAGAATGTGAAACAATAAAACAGGAGAACACTCGACTA CAGAATATCATTGACAACCAGAAGTACTCAGTTGCAGACATTGAGCGAATAAATCATGAAAGAAATGAATTGCAGCAGACTATTAATAAA TTAACCAAGGACCTGGAAGCTGAACAACAGAAGTTGTGGAATGAGGAGTTAAAATATGCCAGAGGCAAAGAAGCGATTGAAACACAATTA GCAGAGTATCACAAATTGGCTAGAAAATTAAAACTTATTCCTAAAGGTGCTGAGAATTCCAAAGGTTATGACTTTGAAATTAAGTTTAAT CCCGAGGCTGGTGCCAACTGCCTTGTCAAATACAGGGCTCAAGTTTATGTACCTCTTAAGGAACTCCTGAATGAAACTGAAGAAGAAATT AATAAAGCCCTAAATAAAAAAATGGGTTTGGAGGATACTTTAGAACAATTGAATGCAATGATAACAGAAAGCAAGAGAAGTGTGAGAACT CTGAAAGAAGAAGTTCAAAAGCTGGATGATCTTTACCAACAAAAAATTAAGGAAGCAGAGGAAGAGGATGAAAAATGTGCCAGTGAGCTT GAGTCCTTGGAGAAACACAAGCACCTGCTAGAAAGTACTGTTAACCAGGGGCTCAGTGAAGCTATGAATGAATTAGATGCTGTTCAGCGG GAATACCAACTAGTTGTGCAAACCACGACTGAAGAAAGACGAAAAGTGGGAAATAACTTGCAACGTCTGTTAGAGATGGTTGCTACACAT GTTGGGTCTGTAGAGAAACATCTTGAGGAGCAGATTGCTAAAGTTGATAGAGAATATGAAGAATGCATGTCAGAAGATCTCTCGGAAAAT >In-frame_SMCHD1_ENST00000320876_chr18_2732490_+_NDC80_ENST00000261597_chr18_2599018_+_3984nt ATGGCAGCGGCGGACGGCGGCGGGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACGGTGTACTTG TTTGATCGGCGCGAAAAGGAGTCCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGCGCGTGTGTG TGTCAGACACTTGGCATTTCACCTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTTGATGAAACT GTTAAAGATGGAGTCACCTTATACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTCTTACCTCAC TATGACACACTGGTTAAAAGTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAATTAATTGAC AATTCATTGTCTGCTACTTCTCGTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAACCTGCTGTT GCAGTGATAGATAATGGAAGAGGAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGGCAAGGTGAC TTTGAAAGTGATCATTCAGGATATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTTGGGGGCAAG CAAGCTGTCTTCTTTGTTGGACAATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTTTCTAAAGAA GATTTTGAGAAGAAGGAGAAAAATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGCCCTCTGATTCTGTTCACATTACAAAT GATGATGAAAGATTTCTACATCATCTTATCATAGAGGAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAGAA CACATACAGTACTTGAAAAATTATTTCCACCTTTGGACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCAAAAGGAAAT GAAATACGAACATCAAAAGAAGTTGAACCTTTCAACAATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCTAAGATTGTC AACCTAAGGGAAATACAAGACGACATGCAGACGTTGTATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAGAT GGTGTAGTGGAAGGGATTATCCGTTATCATCCATTCTTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCAAAATTAAAA GATGAAGATGATGAAGATGATTGTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGATTA ATACCATATACATCAGTTGAAGACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATATCT GGTGCATTATTCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACACC CTTTTTACAAGGATTTTAAATGGACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGTAT GATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCA GCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGA TTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATGAA GTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCCCT GATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAATT GAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTT ATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGGAA AATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTACCA TCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTCCA TTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTTTA TCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAG AATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGACTG AAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACATA ACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAACC AGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAGAT GTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATT CAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAA ATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAATTGAAACACAATTAGCAGAGTATCACAAATTGGCTAGAAAATTAAAACTTATT CCTAAAGGTGCTGAGAATTCCAAAGGTTATGACTTTGAAATTAAGTTTAATCCCGAGGCTGGTGCCAACTGCCTTGTCAAATACAGGGCT CAAGTTTATGTACCTCTTAAGGAACTCCTGAATGAAACTGAAGAAGAAATTAATAAAGCCCTAAATAAAAAAATGGGTTTGGAGGATACT TTAGAACAATTGAATGCAATGATAACAGAAAGCAAGAGAAGTGTGAGAACTCTGAAAGAAGAAGTTCAAAAGCTGGATGATCTTTACCAA CAAAAAATTAAGGAAGCAGAGGAAGAGGATGAAAAATGTGCCAGTGAGCTTGAGTCCTTGGAGAAACACAAGCACCTGCTAGAAAGTACT GTTAACCAGGGGCTCAGTGAAGCTATGAATGAATTAGATGCTGTTCAGCGGGAATACCAACTAGTTGTGCAAACCACGACTGAAGAAAGA CGAAAAGTGGGAAATAACTTGCAACGTCTGTTAGAGATGGTTGCTACACATGTTGGGTCTGTAGAGAAACATCTTGAGGAGCAGATTGCT AAAGTTGATAGAGAATATGAAGAATGCATGTCAGAAGATCTCTCGGAAAATATTAAAGAGATTAGAGATAAGTATGAGAAGAAAGCTACT >In-frame_SMCHD1_ENST00000261598_chr18_2732490_+_NDC80_ENST00000261597_chr18_2599018_+_3984nt ATGGCAGCGGCGGACGGCGGCGGGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACGGTGTACTTG TTTGATCGGCGCGAAAAGGAGTCCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGCGCGTGTGTG TGTCAGACACTTGGCATTTCACCTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTTGATGAAACT GTTAAAGATGGAGTCACCTTATACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTCTTACCTCAC TATGACACACTGGTTAAAAGTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAATTAATTGAC AATTCATTGTCTGCTACTTCTCGTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAACCTGCTGTT GCAGTGATAGATAATGGAAGAGGAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGGCAAGGTGAC TTTGAAAGTGATCATTCAGGATATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTTGGGGGCAAG CAAGCTGTCTTCTTTGTTGGACAATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTTTCTAAAGAA GATTTTGAGAAGAAGGAGAAAAATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGCCCTCTGATTCTGTTCACATTACAAAT GATGATGAAAGATTTCTACATCATCTTATCATAGAGGAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAGAA CACATACAGTACTTGAAAAATTATTTCCACCTTTGGACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCAAAAGGAAAT GAAATACGAACATCAAAAGAAGTTGAACCTTTCAACAATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCTAAGATTGTC AACCTAAGGGAAATACAAGACGACATGCAGACGTTGTATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAGAT GGTGTAGTGGAAGGGATTATCCGTTATCATCCATTCTTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCAAAATTAAAA GATGAAGATGATGAAGATGATTGTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGATTA ATACCATATACATCAGTTGAAGACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATATCT GGTGCATTATTCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACACC CTTTTTACAAGGATTTTAAATGGACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGTAT GATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCA GCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGA TTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATGAA GTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCCCT GATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAATT GAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTT ATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGGAA AATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTACCA TCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTCCA TTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTTTA TCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAG AATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGACTG AAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACATA ACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAACC AGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAGAT GTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATT CAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAA ATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAATTGAAACACAATTAGCAGAGTATCACAAATTGGCTAGAAAATTAAAACTTATT CCTAAAGGTGCTGAGAATTCCAAAGGTTATGACTTTGAAATTAAGTTTAATCCCGAGGCTGGTGCCAACTGCCTTGTCAAATACAGGGCT CAAGTTTATGTACCTCTTAAGGAACTCCTGAATGAAACTGAAGAAGAAATTAATAAAGCCCTAAATAAAAAAATGGGTTTGGAGGATACT TTAGAACAATTGAATGCAATGATAACAGAAAGCAAGAGAAGTGTGAGAACTCTGAAAGAAGAAGTTCAAAAGCTGGATGATCTTTACCAA CAAAAAATTAAGGAAGCAGAGGAAGAGGATGAAAAATGTGCCAGTGAGCTTGAGTCCTTGGAGAAACACAAGCACCTGCTAGAAAGTACT GTTAACCAGGGGCTCAGTGAAGCTATGAATGAATTAGATGCTGTTCAGCGGGAATACCAACTAGTTGTGCAAACCACGACTGAAGAAAGA CGAAAAGTGGGAAATAACTTGCAACGTCTGTTAGAGATGGTTGCTACACATGTTGGGTCTGTAGAGAAACATCTTGAGGAGCAGATTGCT AAAGTTGATAGAGAATATGAAGAATGCATGTCAGAAGATCTCTCGGAAAATATTAAAGAGATTAGAGATAAGTATGAGAAGAAAGCTACT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SMCHD1_ENST00000320876_chr18_2688745_+_NDC80_ENST00000261597_chr18_2585112_+_2622nt GCGGCGCTGGTCGCGGGTCGCACCGTGAGGCTCGCGTGGGCGGCGATAGGCGCTGGGCCCGGGCCCGGTGAGGAGCGCGCCGCGCGTCCC CTTCTCCTCAGGAGTGGCGGGCCGCGGAAGTGACGTGGTGCACGGGCAGGAGCGCGTTTGAATCGGTTCCCGGGTGATCCTCGCGCCTGC CGCTGCTCGGCCGCCGCCGCTGACGAGGAGCTGCAGCGCGCCGGGCCGAGGCCTCGAGCCGCCCCGGGAGCTGGAGCTGAAGGCGCCGCG CGGAGCGCGCACCTCAGCCCTGAGCCCGGCGGCGGCAGGCGTCGCTGTCTTTTCTCCTTTTCCCCAATATGGCAGCGGCGGACGGCGGCG GGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACGGTGTACTTGTTTGATCGGCGCGAAAAGGAGT CCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGCGCGTGTGTGTGTCAGACACTTGGCATTTCAC CTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTTGATGAAACTGTTAAAGATGGAGTCACCTTAT ACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTCTTACCTCACTATGACACACTGGTTAAAAGTG GCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAATTAATTGACAATTCATTGTCTGCTACTTCTC GTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAACCTGCTGTTGCAGTGATAGATAATGGAAGAG GAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGGCAAGGTGACTTTGAAAGTGATCATTCAGGAT ATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTTGGGGGCAAGCAAGCTGTCTTCTTTGTTGGAC AATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTTTCTAAAGAAGATTTTGAGAAGAAGGAGAAAA ATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGATACATACTGCCATGAAAGAAAGCTCACCTTTATTTGATGATGGGCAGC CTTGGGGAGAAGAAACTGAAGATGGAATTATGCATAATAAGTTGTTTTTGGACTACACCATAAAATGCTATGAGAGTTTTATGAGTGGTG CCGACAGCTTTGATGAGATGAATGCAGAGCTGCAGTCAAAACTGAAGGATTTATTTAATGTGGATGCTTTTAAGCTGGAATCATTAGAAG CAAAAAACAGAGCATTGAATGAACAGATTGCAAGATTGGAACAAGAAAGAGAAAAAGAACCGAATCGTCTAGAGTCGTTGAGAAAACTGA AGGCTTCCTTACAAGGAGATGTTCAAAAGTATCAGGCATACATGAGCAATTTGGAGTCTCATTCAGCCATTCTTGACCAGAAATTAAATG GTCTCAATGAGGAAATTGCTAGAGTAGAACTAGAATGTGAAACAATAAAACAGGAGAACACTCGACTACAGAATATCATTGACAACCAGA AGTACTCAGTTGCAGACATTGAGCGAATAAATCATGAAAGAAATGAATTGCAGCAGACTATTAATAAATTAACCAAGGACCTGGAAGCTG AACAACAGAAGTTGTGGAATGAGGAGTTAAAATATGCCAGAGGCAAAGAAGCGATTGAAACACAATTAGCAGAGTATCACAAATTGGCTA GAAAATTAAAACTTATTCCTAAAGGTGCTGAGAATTCCAAAGGTTATGACTTTGAAATTAAGTTTAATCCCGAGGCTGGTGCCAACTGCC TTGTCAAATACAGGGCTCAAGTTTATGTACCTCTTAAGGAACTCCTGAATGAAACTGAAGAAGAAATTAATAAAGCCCTAAATAAAAAAA TGGGTTTGGAGGATACTTTAGAACAATTGAATGCAATGATAACAGAAAGCAAGAGAAGTGTGAGAACTCTGAAAGAAGAAGTTCAAAAGC TGGATGATCTTTACCAACAAAAAATTAAGGAAGCAGAGGAAGAGGATGAAAAATGTGCCAGTGAGCTTGAGTCCTTGGAGAAACACAAGC ACCTGCTAGAAAGTACTGTTAACCAGGGGCTCAGTGAAGCTATGAATGAATTAGATGCTGTTCAGCGGGAATACCAACTAGTTGTGCAAA CCACGACTGAAGAAAGACGAAAAGTGGGAAATAACTTGCAACGTCTGTTAGAGATGGTTGCTACACATGTTGGGTCTGTAGAGAAACATC TTGAGGAGCAGATTGCTAAAGTTGATAGAGAATATGAAGAATGCATGTCAGAAGATCTCTCGGAAAATATTAAAGAGATTAGAGATAAGT ATGAGAAGAAAGCTACTCTAATTAAGTCTTCTGAAGAATGAAGATAAAATGTTGATCATGTATATATATCCATAGTGAATAAAATTGTCT >In-frame_SMCHD1_ENST00000261598_chr18_2688745_+_NDC80_ENST00000261597_chr18_2585112_+_2473nt GAATCGGTTCCCGGGTGATCCTCGCGCCTGCCGCTGCTCGGCCGCCGCCGCTGACGAGGAGCTGCAGCGCGCCGGGCCGAGGCCTCGAGC CGCCCCGGGAGCTGGAGCTGAAGGCGCCGCGCGGAGCGCGCACCTCAGCCCTGAGCCCGGCGGCGGCAGGCGTCGCTGTCTTTTCTCCTT TTCCCCAATATGGCAGCGGCGGACGGCGGCGGGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACG GTGTACTTGTTTGATCGGCGCGAAAAGGAGTCCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGC GCGTGTGTGTGTCAGACACTTGGCATTTCACCTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTT GATGAAACTGTTAAAGATGGAGTCACCTTATACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTC TTACCTCACTATGACACACTGGTTAAAAGTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAA TTAATTGACAATTCATTGTCTGCTACTTCTCGTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAA CCTGCTGTTGCAGTGATAGATAATGGAAGAGGAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGG CAAGGTGACTTTGAAAGTGATCATTCAGGATATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTT GGGGGCAAGCAAGCTGTCTTCTTTGTTGGACAATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTT TCTAAAGAAGATTTTGAGAAGAAGGAGAAAAATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGATACATACTGCCATGAAA GAAAGCTCACCTTTATTTGATGATGGGCAGCCTTGGGGAGAAGAAACTGAAGATGGAATTATGCATAATAAGTTGTTTTTGGACTACACC ATAAAATGCTATGAGAGTTTTATGAGTGGTGCCGACAGCTTTGATGAGATGAATGCAGAGCTGCAGTCAAAACTGAAGGATTTATTTAAT GTGGATGCTTTTAAGCTGGAATCATTAGAAGCAAAAAACAGAGCATTGAATGAACAGATTGCAAGATTGGAACAAGAAAGAGAAAAAGAA CCGAATCGTCTAGAGTCGTTGAGAAAACTGAAGGCTTCCTTACAAGGAGATGTTCAAAAGTATCAGGCATACATGAGCAATTTGGAGTCT CATTCAGCCATTCTTGACCAGAAATTAAATGGTCTCAATGAGGAAATTGCTAGAGTAGAACTAGAATGTGAAACAATAAAACAGGAGAAC ACTCGACTACAGAATATCATTGACAACCAGAAGTACTCAGTTGCAGACATTGAGCGAATAAATCATGAAAGAAATGAATTGCAGCAGACT ATTAATAAATTAACCAAGGACCTGGAAGCTGAACAACAGAAGTTGTGGAATGAGGAGTTAAAATATGCCAGAGGCAAAGAAGCGATTGAA ACACAATTAGCAGAGTATCACAAATTGGCTAGAAAATTAAAACTTATTCCTAAAGGTGCTGAGAATTCCAAAGGTTATGACTTTGAAATT AAGTTTAATCCCGAGGCTGGTGCCAACTGCCTTGTCAAATACAGGGCTCAAGTTTATGTACCTCTTAAGGAACTCCTGAATGAAACTGAA GAAGAAATTAATAAAGCCCTAAATAAAAAAATGGGTTTGGAGGATACTTTAGAACAATTGAATGCAATGATAACAGAAAGCAAGAGAAGT GTGAGAACTCTGAAAGAAGAAGTTCAAAAGCTGGATGATCTTTACCAACAAAAAATTAAGGAAGCAGAGGAAGAGGATGAAAAATGTGCC AGTGAGCTTGAGTCCTTGGAGAAACACAAGCACCTGCTAGAAAGTACTGTTAACCAGGGGCTCAGTGAAGCTATGAATGAATTAGATGCT GTTCAGCGGGAATACCAACTAGTTGTGCAAACCACGACTGAAGAAAGACGAAAAGTGGGAAATAACTTGCAACGTCTGTTAGAGATGGTT GCTACACATGTTGGGTCTGTAGAGAAACATCTTGAGGAGCAGATTGCTAAAGTTGATAGAGAATATGAAGAATGCATGTCAGAAGATCTC TCGGAAAATATTAAAGAGATTAGAGATAAGTATGAGAAGAAAGCTACTCTAATTAAGTCTTCTGAAGAATGAAGATAAAATGTTGATCAT >In-frame_SMCHD1_ENST00000320876_chr18_2732490_+_NDC80_ENST00000261597_chr18_2599018_+_4383nt GCGGCGCTGGTCGCGGGTCGCACCGTGAGGCTCGCGTGGGCGGCGATAGGCGCTGGGCCCGGGCCCGGTGAGGAGCGCGCCGCGCGTCCC CTTCTCCTCAGGAGTGGCGGGCCGCGGAAGTGACGTGGTGCACGGGCAGGAGCGCGTTTGAATCGGTTCCCGGGTGATCCTCGCGCCTGC CGCTGCTCGGCCGCCGCCGCTGACGAGGAGCTGCAGCGCGCCGGGCCGAGGCCTCGAGCCGCCCCGGGAGCTGGAGCTGAAGGCGCCGCG CGGAGCGCGCACCTCAGCCCTGAGCCCGGCGGCGGCAGGCGTCGCTGTCTTTTCTCCTTTTCCCCAATATGGCAGCGGCGGACGGCGGCG GGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACGGTGTACTTGTTTGATCGGCGCGAAAAGGAGT CCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGCGCGTGTGTGTGTCAGACACTTGGCATTTCAC CTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTTGATGAAACTGTTAAAGATGGAGTCACCTTAT ACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTCTTACCTCACTATGACACACTGGTTAAAAGTG GCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAATTAATTGACAATTCATTGTCTGCTACTTCTC GTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAACCTGCTGTTGCAGTGATAGATAATGGAAGAG GAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGGCAAGGTGACTTTGAAAGTGATCATTCAGGAT ATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTTGGGGGCAAGCAAGCTGTCTTCTTTGTTGGAC AATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTTTCTAAAGAAGATTTTGAGAAGAAGGAGAAAA ATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGCCCTCTGATTCTGTTCACATTACAAATGATGATGAAAGATTTCTACATC ATCTTATCATAGAGGAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTACAACCAGAACACATACAGTACTTGAAAAATT ATTTCCACCTTTGGACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCAAAAGGAAATGAAATACGAACATCAAAAGAAG TTGAACCTTTCAACAATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCTAAGATTGTCAACCTAAGGGAAATACAAGACG ACATGCAGACGTTGTATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAGATGGTGTAGTGGAAGGGATTATCC GTTATCATCCATTCTTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCAAAATTAAAAGATGAAGATGATGAAGATGATT GTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGATTAATACCATATACATCAGTTGAAG ACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAATAGGATATCTGGTGCATTATTCACTAATGACA AATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACACCCTTTTTACAAGGATTTTAAATG GACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACAC TTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCAGCAATAGAATGGGATGGAAAGA TATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATG ATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAA AGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGCTCCCTGATAGATTGTCAGTAACTTGGC CTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGG AAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTCTTCAAGTGGAA ATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGGAAAATATTCAGAAGTTGGGGAATT ATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGACCACTACCATCTAAAGCAATTAAGTTTTCTG TTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTCCATTTAATATCCCTCTGGAGTTTC AGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCAAGTGGTTTATCTTTACATTATGAAGAAATAA CCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAGAATTATAATCTGAAGGTTACTC TGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCTCGTCGACTGAAAGTGAAACCTGATTCTGAAA TTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACATAACAGCACAACCAAAATTGATTG TTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGTTCTGGAACCAGTATTTTAACAGGATCTGCAA TTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTA TTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGG TTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAG CAGAAAAAATTAAAATTGAAACACAATTAGCAGAGTATCACAAATTGGCTAGAAAATTAAAACTTATTCCTAAAGGTGCTGAGAATTCCA AAGGTTATGACTTTGAAATTAAGTTTAATCCCGAGGCTGGTGCCAACTGCCTTGTCAAATACAGGGCTCAAGTTTATGTACCTCTTAAGG AACTCCTGAATGAAACTGAAGAAGAAATTAATAAAGCCCTAAATAAAAAAATGGGTTTGGAGGATACTTTAGAACAATTGAATGCAATGA TAACAGAAAGCAAGAGAAGTGTGAGAACTCTGAAAGAAGAAGTTCAAAAGCTGGATGATCTTTACCAACAAAAAATTAAGGAAGCAGAGG AAGAGGATGAAAAATGTGCCAGTGAGCTTGAGTCCTTGGAGAAACACAAGCACCTGCTAGAAAGTACTGTTAACCAGGGGCTCAGTGAAG CTATGAATGAATTAGATGCTGTTCAGCGGGAATACCAACTAGTTGTGCAAACCACGACTGAAGAAAGACGAAAAGTGGGAAATAACTTGC AACGTCTGTTAGAGATGGTTGCTACACATGTTGGGTCTGTAGAGAAACATCTTGAGGAGCAGATTGCTAAAGTTGATAGAGAATATGAAG AATGCATGTCAGAAGATCTCTCGGAAAATATTAAAGAGATTAGAGATAAGTATGAGAAGAAAGCTACTCTAATTAAGTCTTCTGAAGAAT >In-frame_SMCHD1_ENST00000261598_chr18_2732490_+_NDC80_ENST00000261597_chr18_2599018_+_4234nt GAATCGGTTCCCGGGTGATCCTCGCGCCTGCCGCTGCTCGGCCGCCGCCGCTGACGAGGAGCTGCAGCGCGCCGGGCCGAGGCCTCGAGC CGCCCCGGGAGCTGGAGCTGAAGGCGCCGCGCGGAGCGCGCACCTCAGCCCTGAGCCCGGCGGCGGCAGGCGTCGCTGTCTTTTCTCCTT TTCCCCAATATGGCAGCGGCGGACGGCGGCGGGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGCGGAGGCGTCGGCCACAGGACG GTGTACTTGTTTGATCGGCGCGAAAAGGAGTCCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGC GCGTGTGTGTGTCAGACACTTGGCATTTCACCTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAAGAAATTACCTGTGATAATTTT GATGAAACTGTTAAAGATGGAGTCACCTTATACCTGCTACAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTC TTACCTCACTATGACACACTGGTTAAAAGTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCTTTGCCATTTGCTCTTGCGGAA TTAATTGACAATTCATTGTCTGCTACTTCTCGTAACATTGGGGTTAGAAGAATACAGATCAAATTGCTTTTTGATGAAACACAAGGAAAA CCTGCTGTTGCAGTGATAGATAATGGAAGAGGAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTATAGGTTGTCAAAATTCACAAGG CAAGGTGACTTTGAAAGTGATCATTCAGGATATGTTCGTCCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTT GGGGGCAAGCAAGCTGTCTTCTTTGTTGGACAATCAGCCAGAATGATAAGCAAACCTGCAGATTCCCAAGATGTTCACGAGCTTGTGCTT TCTAAAGAAGATTTTGAGAAGAAGGAGAAAAATAAAGAGGCAATATATAGTGGATATATTAGAAACAGAAAGCCCTCTGATTCTGTTCAC ATTACAAATGATGATGAAAGATTTCTACATCATCTTATCATAGAGGAGAAGGAAAAAGATAGCTTTACTGCTGTGGTTATCACAGGGGTA CAACCAGAACACATACAGTACTTGAAAAATTATTTCCACCTTTGGACACGACAGTTAGCGCATATTTATCACTACTATATTCATGGCCCA AAAGGAAATGAAATACGAACATCAAAAGAAGTTGAACCTTTCAACAATATTGATATTGAAATTTCTATGTTTGAAAAAGGGAAGGTACCT AAGATTGTCAACCTAAGGGAAATACAAGACGACATGCAGACGTTGTATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTT GAAGGAGATGGTGTAGTGGAAGGGATTATCCGTTATCATCCATTCTTATATGATAGAGAAACTTACCCTGATGATCCATGCTTTCCATCA AAATTAAAAGATGAAGATGATGAAGATGATTGTTTCATACTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAAT GGACGATTAATACCATATACATCAGTTGAAGACTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTTGCACCAATTGAATGCTACAAT AGGATATCTGGTGCATTATTCACTAATGACAAATTCCAGGTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGAT AAGAACACCCTTTTTACAAGGATTTTAAATGGACAGGAACAGCGAATGAAAATTGACAGAGAATTTGCTTTGTGGCTGAAGGACTGTCAT GAGAAGTATGATAAACAAATAAAATTTACACTTTTTAAGGGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCA ACATATGCAGCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTGGTCAAGACAATCAAGACACTTCCCCTCTTTTATGGAAGC ATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAAGTATATGCTACAGGAGGAGAGGTTCAAATTGCAATGGAACCTCAGGCACTA TATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCA AGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTGCG TTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAG CTCAAAGTTATTTTACATTCTTCAAGTGGAAATAAAGAGATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAA AAAATGGAAAATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAATGCAGACACTTATGCAGGAAGA CCACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAGAGGGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTT GGAGTTCCATTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGATATTCAGCCAGTTCTTGAAGCA AGTGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGT CAAGGCAAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTCACCCT CGTCGACTGAAAGTGAAACCTGATTCTGAAATTTTAGTTATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCA GACAACATAACAGCACAACCAAAATTGATTGTTCATTGTAAGTTTTCAGGTGCTCCAAACCTTCCAGTCTATGTTGTAGATTGCAGTAGT TCTGGAACCAGTATTTTAACAGGATCTGCAATTCAAGTTCAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCTAGT TGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAA AAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGA GAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAATTGAAACACAATTAGCAGAGTATCACAAATTGGCTAGAAAATTA AAACTTATTCCTAAAGGTGCTGAGAATTCCAAAGGTTATGACTTTGAAATTAAGTTTAATCCCGAGGCTGGTGCCAACTGCCTTGTCAAA TACAGGGCTCAAGTTTATGTACCTCTTAAGGAACTCCTGAATGAAACTGAAGAAGAAATTAATAAAGCCCTAAATAAAAAAATGGGTTTG GAGGATACTTTAGAACAATTGAATGCAATGATAACAGAAAGCAAGAGAAGTGTGAGAACTCTGAAAGAAGAAGTTCAAAAGCTGGATGAT CTTTACCAACAAAAAATTAAGGAAGCAGAGGAAGAGGATGAAAAATGTGCCAGTGAGCTTGAGTCCTTGGAGAAACACAAGCACCTGCTA GAAAGTACTGTTAACCAGGGGCTCAGTGAAGCTATGAATGAATTAGATGCTGTTCAGCGGGAATACCAACTAGTTGTGCAAACCACGACT GAAGAAAGACGAAAAGTGGGAAATAACTTGCAACGTCTGTTAGAGATGGTTGCTACACATGTTGGGTCTGTAGAGAAACATCTTGAGGAG CAGATTGCTAAAGTTGATAGAGAATATGAAGAATGCATGTCAGAAGATCTCTCGGAAAATATTAAAGAGATTAGAGATAAGTATGAGAAG AAAGCTACTCTAATTAAGTCTTCTGAAGAATGAAGATAAAATGTTGATCATGTATATATATCCATAGTGAATAAAATTGTCTCAGTAAAG |
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FusionGenePPI for SMCHD1_NDC80 |
| 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 |
| SMCHD1 | SIRT7, BARD1, NOTCH1, FN1, ITGA4, FBXO6, HECW2, LGR4, CUL7, OBSL1, CCDC8, EED, RNF2, SUMO2, KIAA0368, MVB12A, TSG101, TRIM25, WARS, NTRK1, IFI16, HIST1H2BG, HIST1H3A, SRPK2, LRIF1, SNW1, CDC5L, DERL1, TRPC4AP, TSHB, NR3C1, UBE2A | NDC80 | BLOC1S6, KLHL12, CCDC53, USHBP1, AMOTL2, CALCOCO1, MIS12, SPC24, SPC25, NUF2, TOM1L1, NEK2, PSMC2, BUB1, NDC80, ZWINT, PFDN1, NSL1, SKA1, CASC5, PLK1, CCNB1, AURKA, AURKB, CENPH, INPP1, NDE1, ATF4, ATP5O, CCNH, KRT6B, MFAP1, TP53BP2, STX11, CCNK, HGS, TNIP1, TFIP11, MED4, CCHCR1, NDEL1, IFT20, CCDC101, HAUS1, SFR1, KLC3, TXLNA, RUFY4, SHMT2, NXF1, BUB1B, PPP1CC, CCDC68, DSN1, IFT81, SMC1A, PLS1, NTRK1, PCM1, OFD1, SPICE1, DCTN1, ESR1, SNW1, CDC5L, CKAP5, PMF1, EXOC1, WDYHV1, CENPC, SYNC, MLF1, FAM170A |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| Tgene | NDC80 | chr18:2688745 | chr18:2585112 | ENST00000261597 | + | 5 | 17 | 251_618 | 193 | 643 | NEK2 and ZWINT |
| Tgene | NDC80 | chr18:2688745 | chr18:2585112 | ENST00000261597 | + | 5 | 17 | 361_547 | 193 | 643 | PSMC2 and SMC1A |
| Tgene | NDC80 | chr18:2688745 | chr18:2585112 | ENST00000261597 | + | 5 | 17 | 251_431 | 193 | 643 | SMC1A |
| Tgene | NDC80 | chr18:2656260 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 446_642 | 407 | 643 | the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex |
| Tgene | NDC80 | chr18:2688745 | chr18:2585112 | ENST00000261597 | + | 5 | 17 | 446_642 | 193 | 643 | the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex |
| Tgene | NDC80 | chr18:2732490 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 446_642 | 407 | 643 | the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Tgene | NDC80 | chr18:2656260 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 251_618 | 407 | 643 | NEK2 and ZWINT |
| Tgene | NDC80 | chr18:2656260 | chr18:2601395 | ENST00000261597 | + | 11 | 17 | 251_618 | 458 | 643 | NEK2 and ZWINT |
| Tgene | NDC80 | chr18:2732490 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 251_618 | 407 | 643 | NEK2 and ZWINT |
| Tgene | NDC80 | chr18:2656260 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 361_547 | 407 | 643 | PSMC2 and SMC1A |
| Tgene | NDC80 | chr18:2656260 | chr18:2601395 | ENST00000261597 | + | 11 | 17 | 361_547 | 458 | 643 | PSMC2 and SMC1A |
| Tgene | NDC80 | chr18:2732490 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 361_547 | 407 | 643 | PSMC2 and SMC1A |
| Tgene | NDC80 | chr18:2656260 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 128_251 | 407 | 643 | RB1 |
| Tgene | NDC80 | chr18:2656260 | chr18:2601395 | ENST00000261597 | + | 11 | 17 | 128_251 | 458 | 643 | RB1 |
| Tgene | NDC80 | chr18:2688745 | chr18:2585112 | ENST00000261597 | + | 5 | 17 | 128_251 | 193 | 643 | RB1 |
| Tgene | NDC80 | chr18:2732490 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 128_251 | 407 | 643 | RB1 |
| Tgene | NDC80 | chr18:2656260 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 251_431 | 407 | 643 | SMC1A |
| Tgene | NDC80 | chr18:2656260 | chr18:2601395 | ENST00000261597 | + | 11 | 17 | 251_431 | 458 | 643 | SMC1A |
| Tgene | NDC80 | chr18:2732490 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 251_431 | 407 | 643 | SMC1A |
| Tgene | NDC80 | chr18:2656260 | chr18:2601395 | ENST00000261597 | + | 11 | 17 | 446_642 | 458 | 643 | the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex |
| Tgene | NDC80 | chr18:2656260 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 1_445 | 407 | 643 | the N-terminus of CDCA1 |
| Tgene | NDC80 | chr18:2656260 | chr18:2601395 | ENST00000261597 | + | 11 | 17 | 1_445 | 458 | 643 | the N-terminus of CDCA1 |
| Tgene | NDC80 | chr18:2688745 | chr18:2585112 | ENST00000261597 | + | 5 | 17 | 1_445 | 193 | 643 | the N-terminus of CDCA1 |
| Tgene | NDC80 | chr18:2732490 | chr18:2599018 | ENST00000261597 | + | 10 | 17 | 1_445 | 407 | 643 | the N-terminus of CDCA1 |
| - 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 |
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RelatedDrugs for SMCHD1_NDC80 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SMCHD1_NDC80 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SMCHD1 | C1834671 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B | 1 | CTD_human;UNIPROT |
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