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Table 1 Genes sorted by percentage of ESR loss or gain mutations per gene (for genes with more than 10 such mutations)

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

Gene

Number of ESR

Percentage of

 

loss/gain mutations

mutations in gene

CEP290

18

62.1

CHM

14

56.0

FGA

11

52.4

AGL

12

52.2

PAX3

12

50.0

LAMB3

13

48.1

BRAF

11

47.8

NF2

35

47.3

NIPBL

22

46.8

DMD

120

45.8

EFNB1

12

44.4

KRIT1

16

44.4

CYP27A1

11

44.0

COL4A5

84

43.5

EXT1

18

42.9

TSC1

17

42.5

ALB

21

42.0

EDA

12

41.4

IL2RG

28

41.2

APC

32

41.0

F10

15

40.5

MSH2

51

40.5

CYBB

53

40.2

FECH

12

40.0

NF1

89

39.6

BRCA2

35

38.9

  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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