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Table 2 The normal repeat ranges for 13 genes estimated by RepeatHMM-DB, in comparison to normal/pathogenic repeat ranges based on prior knowledge from literature

From: Genome-wide detection of short tandem repeat expansions by long-read sequencing

Type Gene Codon Normal Est. Ref. Pathogenic
DRPLA (Dentatorubral-pallidoluysian atrophy) ATN1 or DRPLA CAG 6–35 11–22 19 49–88
HD (Huntington's disease) HTT CAG 6–35 17–30 21 36–250
SBMA (Spinal-bulbar muscular atrophy) AR CAG 9–36 18–27 23 38–62
SCA1 (Spinocerebellar ataxia Type 1) ATXN1 CAG 6–35 23–32 29 49–88
SCA2 (Spinocerebellar ataxia Type 2) ATXN2 CAG 14–32 15–22 23 33–77
SCA3 (Spinocerebellar ataxia Type 3) ATXN3 CAG 12–39 11–28 14 55–86
SCA6 (Spinocerebellar ataxia Type 6) CACNA1A CAG 4–18 7–14 13 21–30
SCA7 (Spinocerebellar ataxia Type 7) ATXN7 CAG 7–17 9–12 10 38–120
FRAXA (Fragile X syndrome) FMR1, on the X-chr CGG 6–53 20–30 20 230+/55–200
FRAXE (Fragile XE mental retardation) AFF2, on the X-chr CCG 6–35 25–35 29 200+
FRDA (Friedreich's ataxia) FXN or X25 GAA 7–34 7–10 6 100+
DM (Myotonic dystrophy) DMPK CTG 5–34 5–16 20 50+
SCA8 (Spinocerebellar ataxia Type 8) ATXN8 or SCA8 CTG 16–37 8–21 26 110–250
  1. Est.: the estimated normal repeat ranges in RepeatHMM-DB; Ref.: the repeat counts from the reference genome GRCh38/hg38; Normal: the normal repeat ranges from prior knowledge