Table 3 Summary of information collected and analyzed from different sources regarding HPin7 and HPin8 of DLG2

 Location (UCSC)

Intron 7

Intron 8

Fig. 1

1

 Number of del (DLG2 cohort^a)

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. S10^c

5

 Number of del called from 1KG

0 (15)

2 (15)

Fig. S11^c

6

 Roadmap Epigenomics prediction

Active promoter

Active promoter

Fig. S16, S17^c

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, S31^c

10

 FANTOM5 CAGE expression

Brain

Brain

Fig. S32^c

11

 Number of human ESTs

2

2

Fig. S30, S31^c

12

 Ensembl predicted DLG2 exon

No

Yes

Table S2^c

13

 ENCODE fetal brain RNA-Seq peaks

Yes

Yes

Fig. S39, S40^c

14

 JunctionSeq promoter and first exon de novo prediction

Yes

Yes

Fig. S54^c

15

 5′ splice site

AG.GT

AG.GT

Fig. S43, S44^c

16

 Coding exon

Yes

Yes

Results

17

 Splicing into

Exon 8

Exon 11

Results

18

 Recursive exon motif

No

No

Results

19

 Location

Intron 1

Intron 2

Fig S12, S13^c

20

 Epigenomics (from ENCODE)

H3K4me3 in cerebellum

H3K4me3 in cerebellum

Fig S12, S13^c

21

 Ensembl exon prediction

Yes

Yes

Fig S12, S13^c

22

 Coding exon

Yes

Yes

Results

23

 Splicing into

Exon 2

Exon 4

Results

24