HPin7 | HPin8 | Reference | Row | |
---|---|---|---|---|
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 |