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Table 3 The 1,000 top tissue-specific hydroxymethylated positions (TS-HMPs) between the prefrontal cortex and cerebellum are enriched in distinct genomic regions

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

 

Loci with detectable 5hmC in brain (%)

Top 1,000 loci with tissue-specific differences

Sites with detectable 5hmC (%)

Enrichment (95 % CI)

P value

All probes (N = 79,263)

1,000

-

-

 CpG island feature

  Island

7,837 (9.9 %)

317 (31.7 %)

4.23 (3.68–4.85)

6.37E-79

  Shore

22,593 (28.5 %)

209 (20.9 %)

0.66 (0.57–0.77)

6.20E-08

  Shelf

11,674 (14.7 %)

92 (9.2 %)

0.59 (0.47–0.73)

2.64E-07

  Outside

36,342 (45.8 %)

381 (38.1 %)

0.73 (0.64–0.83)

9.82E-07

  Unannotated

817 (1.0 %)

1 (0.1 %)

0.10 (0.00–0.54)

7.00E-04

 Gene feature

  Intergenic

9,604 (12.1 %)

132 (13.2 %)

1.10 (0.91–1.33)

0.306

  Distal promoter

3,703 (4.7 %)

25 (2.5 %)

0.52 (0.34–0.78)

6.30E-04

  Proximal promoter

16,979 (21.4 %)

121 (12.1 %)

0.50 (0.41–0.61)

3.32E-14

  Gene body

46,238 (58.3 %)

690 (69.0 %)

1.59 (1.39–1.82)

5.15E-12

  Downstream

1,922 (2.4 %)

31 (3.1 %)

1.29 (0.87–1.85)

0.178

  Unannotated

817 (1.0 %)

1 (0.1 %)

0.10 (0.00–0.54)

7.00E-04

 Transcription factor binding site

25,482 (32.1 %)

125 (12.5 %)

0.30 (0.25–0.36)

1.30E-46

 Dnase 1 hypersensitivity site

8,155 (10.3 %)

280 (28.0 %)

3.39 (2.94–3.91)

3.51E-54

Alternative transcription events (N = 30,659)

404

-

-

  A3SS

798 (2.6 %)

14 (3.5 %)

1.34 (0.72–2.29)

0.270

  A5SS

827 (2.7 %)

17 (4.2 %)

1.58 (0.91–2.59)

0.087

  AFE

9,159 (29.9 %)

92 (22.8 %)

0.69 (0.54–0.88)

1.77E-03

  ALE

3,017 (9.8 %)

40 (9.9 %)

1.01 (0.71–1.40)

0.933

  CE

16,604 (54.2 %)

202 (50.0 %)

0.85 (0.69–1.04)

0.097

  CNE

3,755 (12.2 %)

69 (17.1 %)

1.48 (1.12–1.92)

4.70E-03

  EI

50 (0.2 %)

1 (0.2 %)

1.52 (0.04–8.91)

0.487

  II

6,003 (19.6 %)

59 (14.6 %)

0.70 (0.52–0.93)

0.011

  IR

3,529 (11.5 %)

54 (13.4 %)

1.19 (0.87–1.59)

0.240

  MXE

3,814 (12.4 %)

39 (9.7 %)

0.75 (0.53–1.05)

0.095

  1. The level of enrichment of the top 1,000 loci 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