Table 5. .
Ensembl Genes and Fetal Brain Gene Expression in Regions Defined by de Novo CNVs in Children with Idiopathic MR[Note]
SAGE Tag Expression Bins |
|||||||||||||
Family | De Novo CNV | Chromosome | Starting Breakpoint (bp) |
Ending Breakpoint (bp) |
No. of Ensembl Gene Predictions in Region | No. of Genes Mapped by SAGE Tags | 1–5 | 6–9 | 10–49 | 50–99 | 100+ | Total Tags | Total Tags in Genes |
1895 | Deletion | 13 | 18867056 | 24517730 | 63 | 16 | 70 | 20 | 6 | 1 | 0 | 97 | 45 |
3476 | Deletion | 4 | 82146749 | 93214433 | 112 | 22 | 113 | 29 | 15 | 8 | 4 | 169 | 57 |
4794 | Duplication | 16 | 925718 | 3864938 | 165 | 47 | 109 | 43 | 33 | 11 | 10 | 206 | 102 |
4818 | Deletion | 12 | 63342649 | 66780095 | 29 | 9 | 31 | 9 | 9 | 0 | 0 | 49 | 22 |
5003 | Deletion | 2 | 50857428 | 51178791 | 0 | 0 | 9 | 3 | 0 | 0 | 0 | 12 | 0 |
5566 | Deletion | 14 | 20741117 | 20918741 | 3 | 0 | 1 | 1 | 1 | 0 | 0 | 3 | 0 |
5994a | Mosaic trisomy | 9 | … | … | 1,362 | 433 | 1,085 | 344 | 284 | 50 | 23 | 1,786 | 1,113 |
6168 | Duplication | 17 | 45093545 | 46196038 | 37 | 12 | 47 | 15 | 15 | 5 | 1 | 83 | 32 |
6545 | Deletion | 7 | 3304850 | 6940933 | 73 | 15 | 56 | 20 | 20 | 2 | 2 | 100 | 43 |
7807 | Deletion | 22 | 26138764 | 27552525 | 17 | 3 | 31 | 7 | 3 | 0 | 0 | 41 | 12 |
8326 | Deletion | 14 | 19584863 | 21207935 | 72 | 12 | 34 | 11 | 11 | 2 | 1 | 59 | 26 |
Note.— Expression levels were estimated by the number of unique tag types per expression level bin (normalized to tags per million) in long SAGE Library LSAGE_Brain_fetal_normal_B_S.
Starting and ending breakpoints are not shown because CNV involves the whole chromosome.