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Table 3 List of all the putative RNA editing modifications observed in the cohort of 16 samples, in the 118 genes and regulatory regions covered by both DNA target sequencing and RNA sequencing

From: Genomic, transcriptomic and RNA editing analysis of human MM1 and VV2 sporadic Creutzfeldt-Jakob disease

Region

Position

Consequence

Class_counts

Gene

Chr19

42,490,154

Splicing, intronic

1 MM1, 1 VV2

ATP1A3

Chr11

47,493,737

Splicing, intronic

1 MM1

CELF1

Chr1

207,741,245

Synonimous

1 VV2

CR1

Chr3

184,039,770

Synonimous

1 VV2

EIF4G1

Chr22

32,871,936

Intronic

3 MM1, 4 VV2

FBXO7

Chr2

233,712,272

Synonimous

2 VV2

GIGYF2

Chr7

26,236,175

Splicing, intronic

4 MM1, 2 VV2

HNRNPA2B1

Chr7

26,236,172

Splicing, intronic

3 MM1, 2 VV2

HNRNPA2B1

Chr12

40,671,989

Missense (Ile723Val)

1 VV2

LRRK2

Chr11

85,742,663

Splicing, intronic

1 VV2

PICALM

Chr8

27,255,263

Synonimous

1 MM1, 2 VV2

PTK2B

Chr4

90,749,343

Splicing, intronic

1 VV2

SNCA

Chr6

170,871,040

Synonimous

2 MM1, 4 VV2

TBP

Chr6

170,871,046

Intronic

2 MM1, 4 VV2

TBP

Chr6

170,871,013

Synonimous

2 MM1, 2 VV2

TBP

Chr9

132,576,302

Synonimous

1 MM1

TOR1A

Chr20

57,022,720

3′UTR

2 VV2 e 2 MM1

VAPB

Chr15

62,306,194

Splicing, intronic

6 MM1, 6 VV2

VPS13C