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Table 2 Genes sorted by total number of ESR gain or loss mutations

From: Exon identity crisis: disease-causing mutations that disrupt the splicing code

Gene

No of ESR gains

Percentage of

 

and losses

gene

F8

221

28.4

CFTR

173

30.1

LDLR

143

27.1

FBN1

135

24.9

DMD

120

45.8

F9

101

32.8

NF1

89

39.6

COL4A5

84

43.5

PAH

79

23.0

GLA

69

34.8

OTC

66

28.9

BTK

64

25.7

BRCA1

61

35.9

ATP7B

60

25.5

ATM

58

34.3

MEN1

58

37.2

ABCA4

56

19.0

MLH1

55

35.7

COL7A1

53

28.3

CYBB

53

40.2

MSH2

51

40.5

COL1A1

49

21.1

GCK

48

28.2

TSC2

47

30.3

COL1A2

45

26.0

MYH7

45

23.9

  1. The table shows genes with mutations that cause the loss or gain of a disease-enriched ESR, based on data from [68]. Cancer-associated tumor suppressor genes from the Cancer Census [69] and oncogenes are in bold.
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Genome Biology

ISSN: 1474-760X

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