Table 1 Variability of triplet- and quintuplet-repeat disease locus in 21 individuals detected by long read nanopore sequencing. OMIM: Online Mendelian Inheritance in Men
Chromosome | Start | End | Repeat | Gene | Function | Repeat copy number change from the reference | Absolute repeat length | Disease | OMIM | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mean | Median | IQR | Q1 | Q3 | Mean length (bp) | Q1 length (bp) | Q3 length (bp) | ||||||||
chr2 | 176,093,058 | 176,093,103 | GGC | HOXD13 | Coding | − 0.1 | 0 | 1.00 | − 1.00 | 0.00 | 45 | 42 | 45 | Syndactyly, type V | 186,300 |
chr4 | 41,745,971 | 41,746,031 | GGC | PHOX2B | Coding | 0.0 | 0 | 2.00 | − 1.00 | 1.00 | 60 | 57 | 63 | Congenital central hypoventilation syndrome | 209,880 |
chr6 | 45,422,750 | 45,422,801 | GGC | RUNX2 | Coding | − 0.7 | 0 | 1.00 | − 1.00 | 0.00 | 49 | 48 | 51 | Cleidocranial dysplasia, forme fruste, with brachydactyly | 119,600 |
chr7 | 27,199,924 | 27,199,966 | GGC | HOXA13 | Coding | 0.0 | 0 | 2.00 | − 1.00 | 1.00 | 42 | 39 | 45 | Hand-foot-genital syndrome | 140,000 |
chr13 | 99,985,448 | 99,985,493 | GGC | ZIC2 | Coding | 0.1 | 0 | 2.00 | − 1.00 | 1.00 | 45 | 42 | 48 | Holoprosencephaly | 609,637 |
chr14 | 23,321,472 | 23,321,502 | GGC | PABPN1 | Coding | − 0.1 | 0 | 1.00 | − 1.00 | 0.00 | 30 | 27 | 30 | Oculopharyngeal muscular dystrophy | 164,300 |
chrX | 25,013,649 | 25,013,697 | GGC | ARX | Coding | 0.2 | 0 | 1.00 | 0.00 | 1.00 | 49 | 48 | 51 | Early infantile epileptic encephalopathy | 308,350 |
chrX | 140,504,316 | 140,504,361 | GGC | SOX3 | Coding | 0.0 | 0 | 2.00 | − 1.00 | 1.00 | 45 | 42 | 48 | Mental retardation with isolated growth hormone deficiency | 300,123 |
chr1 | 149,390,802 | 149,390,842 | GGC | NOTCH2NLC | 5′UTR | 6.7 | 6 | 5.00 | 3.00 | 8.00 | 60 | 49 | 64 | Neuronal intranuclear inclusion disease | 603,472 |
chr8 | 104,588,965 | 104,588,999 | CCG | LRP12 | 5′UTR | 0.3 | 0 | 2.00 | − 1.00 | 1.00 | 35 | 31 | 37 | Ocuropharyngodistal myopathy | 164,310 |
chr10 | 79,826,315 | 79,826,404 | GGC | LOC642361,NUTM2B-AS1 | Non coding exon | 2.6 | 3 | 3.00 | 1.00 | 4.00 | 97 | 92 | 101 | Ocuropharyngodistal myopathy | 618,637 |
chr19 | 14,496,042 | 14,496,085 | CCG | GIPC1 | 5′UTR | 1.6 | 0 | 3.00 | − 1.00 | 2.00 | 48 | 40 | 49 | Ocuropharyngodistal myopathy | 618,940 |
chrX | 147,912,050 | 147,912,110 | GGC | FMR1 | 5′UTR | 8.7 | 9 | 5.00 | 6.00 | 11.00 | 86 | 78 | 93 | Fragile X syndrome/tremor-ataxia syndrome | 300,624/300,623 |
chrX | 148,500,637 | 148,500,682 | GGC | AFF2 | 5′UTR | 2.2 | 2 | 5.00 | 0.00 | 5.00 | 52 | 45 | 60 | Fragile X syndrome | 309,548 |
chr3 | 63,912,685 | 63,912,715 | CAG | ATXN7 | Coding | 0.2 | 0 | 2.00 | − 1.00 | 1.00 | 30 | 27 | 33 | Spinocerebellar ataxia 7 | 164,500 |
chr4 | 3,074,876 | 3,074,939 | CAG | HTT | Coding | − 1.2 | − 2 | 3.00 | − 3.00 | 0.00 | 59 | 54 | 63 | Huntington disease | 143,100 |
chr6 | 16,327,635 | 16,327,722 | CAG | ATXN1 | Coding | − 1.1 | − 1 | 4.00 | − 3.00 | 1.00 | 84 | 78 | 90 | Spinocerebellar ataxia 1 | 164,400 |
chr6 | 170,561,907 | 170,562,021 | CAG | TBP | Coding | − 2.7 | − 3 | 3.00 | − 4.00 | − 1.00 | 106 | 102 | 111 | Spinocerebellar ataxia 17 | 607,136 |
chr12 | 6,936,716 | 6,936,773 | CAG | ATN1 | Coding | − 2.5 | − 2 | 5.00 | − 5.00 | 0.00 | 49 | 42 | 57 | Dentatorubral-pallidoluysian atrophy | 125,370 |
chr12 | 111,598,950 | 111,599,019 | CAG | ATXN2 | Coding | − 1.4 | − 1 | 1.00 | − 2.00 | − 1.00 | 65 | 63 | 66 | Spinocerebellar ataxia 2 | 183,090 |
chr14 | 92,071,010 | 92,071,040 | CAG | ATXN3 | Coding | 7.2 | 8 | 10.00 | 1.00 | 11.00 | 51 | 33 | 63 | Spinocerebellar ataxia 3 | 109,150 |
chr19 | 13,207,858 | 13,207,897 | CAG | CACNA1A | Coding | − 2.0 | − 2 | 2.00 | − 3.00 | -1.00 | 33 | 30 | 36 | Spinocerebellar ataxia 6 | 183,086 |
chrX | 67,545,317 | 67,545,386 | CAG | AR | Coding | − 1.7 | − 2 | 5.00 | − 4.00 | 1.00 | 64 | 57 | 72 | Spinal and Bulbar Muscular Atrophy | 313,200 |
chr2 | 190,880,868 | 190,880,920 | GCA | GLS | 5′UTR | − 4.3 | − 3 | 6.75 | − 8.00 | − 1.25 | 39 | 28 | 48 | Global developmental delay, progressive ataxia, and elevated glutamine | 618,412 |
chr18 | 55,586,153 | 55,586,229 | AGC | TCF4 | 5′UTR | − 5.5 | − 7 | 9.00 | − 10.00 | − 1.00 | 59 | 46 | 73 | Fuchs corneal dystrophy | 602,272 |
chr19 | 45,770,204 | 45,770,264 | CAG | DMPK | 3′UTR | − 9.4 | − 9 | 5.00 | − 12.00 | − 7.00 | 32 | 24 | 39 | Myotonic dystrophy 1 | 160,900 |
chr2 | 96,197,066 | 96,197,124 | AAAAT | STARD7 | intron | 2.9 | 1 | 3.00 | 0.00 | 3.00 | 72 | 58 | 73 | Myoclonic epilepsy | 607,876 |
chr3 | 183,712,187 | 183,712,226 | TTTTA | YEATS2 | intron | 11.0 | 2 | 30.00 | 0.00 | 30.00 | 94 | 39 | 189 | Myoclonic epilepsy | 615,127 |
chr4 | 159,342,526 | 159,342,618 | AAAAT | RAPGEF2 | Intron | 0.5 | 1 | 1.00 | 0.00 | 1.00 | 94 | 92 | 97 | Epilepsy, familial adult myoclonic, 7 | 618,075 |
chr5 | 10,356,339 | 10,356,411 | AAAAT | MARCHF6 | Intron | 0.4 | 0 | 1.00 | 0.00 | 1.00 | 74 | 72 | 77 | Myoclonic epilepsy | 613,608 |
chr8 | 118,366,815 | 118,366,918 | AAAAT | SAMD12 | Intron | − 0.8 | − 1 | 3.00 | − 2.00 | 1.00 | 99 | 93 | 108 | Epilepsy, familial adult myoclonic, 1 | 601,068 |
chr16 | 24,613,438 | 24,613,532 | AAAAT | TNRC6A | Intron | − 5.0 | − 5 | 2.00 | − 6.00 | − 4.00 | 69 | 64 | 74 | Epilepsy, familial adult myoclonic, 6 | 618,074 |
chr16 | 66,490,396 | 66,490,466 | AAAAT | BEAN1 | Intron | 24.1 | 3 | 7.00 | − 1.00 | 6.00 | 190 | 65 | 100 | Spinocerebellar ataxia 31 | 117,210 |