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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