|
Entry
|
Chr
|
Start
|
End
|
Width
|
Gene name
|
Strand
|
Number of cases
|
Number of control
|
CEGA score
|
Splicing site
|
Type
|
|---|
|
a
|
Chr2
|
236577649
|
236583540
|
5892
|
AGAP1
|
+
|
2
|
1
|
31
|
236579701-2
|
P
|
|
b
|
Chr3
|
114167766
|
114174803
|
7038
|
ZBTB20
|
-
|
2
|
0
|
832
|
114173425-6
|
P
|
|
c
|
Chr5
|
14440397
|
14444098
|
3702
|
TRIO
|
+
|
1
|
1
|
192
|
14441469-70
|
P
|
|
d
|
Chr5
|
58722748
|
58727155
|
4408
|
PDE4D
|
-
|
1
|
4
|
300
|
58726119-20
|
N
|
|
e
|
Chr7
|
75266093
|
75269827
|
3735
|
HIP1
|
-
|
3
|
2
|
144
|
75268368-9
|
N
|
|
f
|
Chr11
|
84147024
|
84149361
|
2338
|
DLG2*
|
-
|
11
|
5
|
557
|
84148430-1
|
Pa
|
|
g
|
Chr11
|
84429842
|
84432885
|
3044
|
DLG2*
|
-
|
13
|
2
|
97
|
84431338-9
|
Nb
|
|
h
|
Chr11
|
84843131
|
84844944
|
1814
|
DLG2
|
-
|
3
|
0
|
862
|
84843811-2
|
P
|
|
i
|
Chr17
|
61227923
|
61231987
|
4065
|
TANC2
|
+
|
2
|
6
|
194
|
61228741-2
|
E
|
|
j
|
Chr22
|
28832791
|
28840308
|
7518
|
TTC28
|
-
|
2
|
1
|
553
|
28838873-4
|
P
|
|
k
|
Chr22
|
36355185
|
36358538
|
3354
|
RBFOX2
|
-
|
1
|
0
|
NA
|
36357610-1
|
P
|
- Each row details an intronic H3K4me3 peak region overlapping any smallest region of overlap (SRO) meeting the following criteria: deleted in at least one case individual and demonstrating the presence of both transcription factor binding sites and CAGE peaks, of a H3K4me3/H3K4me1 peak ratio greater than 1, and of at least one abrupt RNA-Seq delta coverage of 20. We provide the name of the gene the intron belongs to, the number of case and control patients (sum of DGV and GDD/ID) found in the cohorts, and the exact location of the splicing site. The asterisk next to the gene name represents a significant statistical enrichment after Bonferroni correction of NDD patients in such region with p < 0.05 (see “Results”; Additional file 2). “CEGA score” documents the conservation score across vertebrates as reported in the Conserved Elements from Genomics Alignments database [63]. The “Type” column reports whether such a region is predicted as promoter (P) or exon (E) by Ensembl (archive 75, Feb 2014) or as novel (N). Coordinates are in hg19
-
aThis region corresponds to HPin8
-
bThis region corresponds to HPin7
