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Table 1 Gene loci, segmental duplications and transcription evidence associated with internal tandem repeat-driven modifications

From: Tandem repeats modify the structure of human genes hosted in segmental duplications

    RNA support
Modifications Associated gene loci Associated SDs Unique match Best match Multiple match
Exon (53) 180 474 48 5 2
Intron (27) 106 370 21 4 1
Both (18) 76 154 - - -
Total (80) 210 496 68 9 3
  1. In 18 cases, the same variable ITR can result in both exon and intron modifications. RNAs supporting the modification can have a unique or best match in that locus, or multiple matches in the genome (see Materials and methods).