Skip to main content

Table 2 Genes included in the targeted next generation sequencing strategy

From: Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Official gene symbol Legacy name Ref Seq NM # # Exons Size of coding exons (bp) Targeted region size (bp) Theoretical coverage
DDB1   NM_001923.4 27 3423 6,150 94.67 %
DDB2 XPE NM_000107.2 10 1284 2,268 99.03 %
ERCC1   NM_001983.3 10 894 2,102 99.57 %
ERCC2 XPD NM_000400.3 23 2283 4,894 98.12 %
ERCC3 XPB NM_000122.1 15 2349 3,864 99.48 %
ERCC4 XPF NM_005236.2 11 2751 3,862 100.00 %
ERCC5 XPG NM_000123.3 15 3561 5,076 100.00 %
ERCC6 CSB NM_000124.3 21 4482 9,127 99.99 %
ERCC8 CSA NM_000082.3 12 1191 3,256 98.65 %
GTF2H5 TTD-A NM_207118.2 3 216 418 100.00 %
MPLKIP TTDN1 NM_138701.3 2 540 742 100.00 %
POLH   NM_006502.2 11 2142 3,152 100.00 %
USP7   NM_003470.2 31 3309 6,440 93.88 %
UVSSA KIAA1530 NM_020894.2 14 2130 3,443 99.07 %
XPA   NM_000380.3 6 822 1,428 100.00 %
XPC   NM_004628.4 16 2823 4,767 100.00 %
   Total 227 34200 58,721  
  1. Targeted genomic regions covered coding exons with their intron boundaries (50 pb) from the major isoform of 16 genes involved in NER pathway. 5’ and 3’ untranslated regions (UTR) were included for ERCC6(CSB) and ERCC8(CSA) genes only. The total panel size was 62 kb considering the 3 genes located on sex chromosomes (SRY, AMELX and AMELY) added as gender internal quality control