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Table 2 The most hydroxymethylated loci in prefrontal cortex and cerebellum are enriched in distinict genomic regions

From: Variation in 5-hydroxymethylcytosine across human cortex and cerebellum

Loci with detectable 5hmC in brain (%)

1,000 loci with highest 5hmC in prefrontal cortex

1,000 loci with highest 5hmC in cerebellum

Detectable 5hmC sites (%)

Enrichment (95 % CI)

P value

Detectable 5hmC sites (%)

Enrichment (95 % CI)

P value

All probes (N = 79,263)

1,000

-

-

1,000

-

-

 CpG island feature

  Island

7,837 (9.9 %)

121 (12.1 %)

1.25 (1.03–1.52)

0.022

275 (27.5 %)

3.46 (2.99–3.99)

7.01E-55

  Shore

22,593 (28.5 %)

472 (47.2 %)

2.24 (1.97–2.55)

3.19E-35

276 (27.6 %)

0.96 (0.83–1.10)

0.549

  Shelf

11,674 (14.7 %)

93 (9.3 %)

0.59 (0.47–0.74)

4.29E-07

121 (12.1 %)

0.80 (0.65–0.97)

0.019

  Outside

36,342 (45.8 %)

307 (30.7 %)

0.52 (0.46–0.60)

3.37E-22

326 (32.6 %)

0.57 (0.50–0.65)

2.94E-17

  Unannotated

817 (1.0 %)

7 (0.7 %)

0.68 (0.27–1.41)

0.426

2 (0.2 %)

0.19 (0.02–0.70)

3.94E-03

 Gene feature

  Intergenic

9,604 (12.1 %)

89 (8.9 %)

0.71 (0.56–0.88)

1.48E-03

74 (7.4 %)

0.58 (0.45–0.74)

1.56E-06

  Distal promoter

3,703 (4.7 %)

46 (4.6 %)

0.98 (0.71–1.33)

1.000

19 (1.9 %)

0.40 (0.24–0.62)

4.88E-06

  Proximal promoter

16,979 (21.4 %)

365 (36.5 %)

2.11 (1.85–2.40)

3.10E-27

206 (20.6 %)

0.95 (0.81–1.11)

0.561

  Gene body

46,238 (58.3 %)

474 (47.4 %)

0.64 (0.57–0.73)

5.30E-12

670 (67.0 %)

1.45 (1.27–1.66)

2.60E-08

  Downstream

1,922 (2.4 %)

19 (1.9 %)

0.78 (0.47–1.23)

0.350

29 (2.9 %)

1.20 (0.80–1.74)

0.351

  Unannotated

817 (1.0 %)

7 (0.7 %)

0.68 (0.27–1.41)

0.426

2 (0.2 %)

0.19 (0.02–0.70)

3.94E-03

 Transcription factor binding Site

25,482 (32.1 %)

545 (54.5 %)

2.53 (2.22–2.87)

2.57E-47

383 (38.3 %)

1.31 (1.15–1.49)

4.97E-05

 Dnase 1 hypersensitivity site

8,155 (10.3 %)

150 (15 %)

1.54 (1.28–1.84)

3.95E-06

143 (14.3 %)

1.45 (1.21–1.74)

8.42E-05

Alternative transcription events (N = 30,659 probes)

398

-

-

451

-

-

  A3SS

798 (2.6 %)

8 (2.0 %)

0.77 (0.33–1.54)

0.632

22 (4.9 %)

1.92 (1.18–2.96)

6.74E-03

  A5SS

827 (2.7 %)

12 (3.0 %)

1.12 (0.57–1.90)

0.640

17 (3.8 %)

1.41 (0.81–2.30)

0.185

  AFE

9,159 (29.9 %)

158 (39.7 %)

1.55 (1.25–1.90)

3.41E-05

112 (24.8 %)

0.78 (0.62–0.96)

0.020

  ALE

3,017 (9.8 %)

27 (6.8 %)

0.67 (0.43–0.99)

0.041

46 (10.2 %)

1.04 (0.75–1.42)

0.811

  CE

16,604 (54.2 %)

185 (46.5 %)

0.74 (0.60–0.90)

2.37E-03

208 (46.1 %)

0.72 (0.60–0.88)

7.17E-04

  CNE

3,755 (12.2 %)

53 (13.3 %)

1.10 (0.81–1.48)

0.490

62 (13.7 %)

1.14 (0.86–1.50)

0.347

  EI

50 (0.2 %)

1 (0.3 %)

1.54 (0.04–9.04)

0.482

2 (0.4 %)

2.73 (0.32–10.43)

0.174

  II

6,003 (19.6 %)

89 (22.4 %)

1.18 (0.92–1.50)

0.163

87 (12.3 %)

0.98 (0.77–1.25)

0.952

  IR

3,529 (11.5 %)

63 (15.8 %)

1.45 (1.08–1.90)

0.011

80 (17.7 %)

1.66 (1.28–2.12)

1.08E-04

  MXE

3,814 (12.4 %)

43 (10.8 %)

0.85 (0.61–1.17)

0.259

35 (7.8 %)

0.59 (0.41–0.84)

1.90E-03

  1. The level of enrichment of the top 1,000 loci in each brain region was determined by Fisher’s exact test. 5hmC, 5-hydroxymethylcytosine; CI, confidence interval; A3SS, alternative 3’ splice site; A5SS, alternative 5’ splice site; AFE, alternative first exon; ALE, alternative last exon; CE, cassette exon; CNE, constitutive exon; EI, exon isoforms; II, intron isoforms; IR, intron retention; MXE, mutually exclusive exon