Human (hg19, DLG2)
|
Location (UCSC)
|
Intron 7
|
Intron 8
|
Fig. 1
|
1
|
Number of del (DLG2 cohorta)
|
15 (29)b
|
16 (29)b
|
Fig. 1
|
2
|
Number of del GDD/ID cases
|
7 (14)
|
4 (14)
|
Methods
|
3
|
Number of del GDD/ID control
|
4 (19)
|
1 (19)
|
Methods
|
4
|
Number of del DGV
|
0 (24)
|
0 (24)
|
Fig. S10c
|
5
|
Number of del called from 1KG
|
0 (15)
|
2 (15)
|
Fig. S11c
|
6
|
Roadmap Epigenomics prediction
|
Active promoter
|
Active promoter
|
Fig. S16, S17c
|
7
|
Roadmap Epigenomics highest peak
|
H3K4me3 in brain tissues
|
H3K4me3 in brain tissues
|
Fig. 2
|
8
|
ncRNA
|
lnc-TMEM126B-2:1
|
No
|
Results
|
9
|
FANTOM5 CAGE reads
|
Yes
|
Yes
|
Fig. S30, S31c
|
10
|
FANTOM5 CAGE expression
|
Brain
|
Brain
|
Fig. S32c
|
11
|
Number of human ESTs
|
2
|
2
|
Fig. S30, S31c
|
12
|
Ensembl predicted DLG2 exon
|
No
|
Yes
|
Table S2c
|
13
|
ENCODE fetal brain RNA-Seq peaks
|
Yes
|
Yes
|
Fig. S39, S40c
|
14
|
JunctionSeq promoter and first exon de novo prediction
|
Yes
|
Yes
|
Fig. S54c
|
15
|
5′ splice site
|
AG.GT
|
AG.GT
|
Fig. S43, S44c
|
16
|
Coding exon
|
Yes
|
Yes
|
Results
|
17
|
Splicing into
|
Exon 8
|
Exon 11
|
Results
|
18
|
Recursive exon motif
|
No
|
No
|
Results
|
19
|
Mouse (mm9, Dlg2)
|
Location
|
Intron 1
|
Intron 2
|
Fig S12, S13c
|
20
|
Epigenomics (from ENCODE)
|
H3K4me3 in cerebellum
|
H3K4me3 in cerebellum
|
Fig S12, S13c
|
21
|
Ensembl exon prediction
|
Yes
|
Yes
|
Fig S12, S13c
|
22
|
Coding exon
|
Yes
|
Yes
|
Results
|
23
|
Splicing into
|
Exon 2
|
Exon 4
|
Results
|
24
|