Table 1. Summary of hCDKL5 transcript isoforms.
Human | ||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
X-chromosome coordinates | CDKL5 isoform | |||||||||||||
Exon | Size (bp) | Exon start | Exon end | 1 | 2 | 3 | 4 | 5 | ||||||
1 | 88 | 18425608 | 18425695 | + | + | + | + | + | ||||||
1a# | 333 | 18426069 | 18426401 | + | ||||||||||
1b# | 229 | 18426691 | 18426919 | + | ||||||||||
44 | 18426876 | 18426919 | + | |||||||||||
1c | 38 | 18442224 | 18442261 | + | ||||||||||
1d | 49 | 18442375 | 18442423 | + | ||||||||||
1cd#$ | 200 | 18442224 | 18442423 | + | ||||||||||
1e# | 121 | 18443839 | 18443959 | + | + | |||||||||
141 | 18443819 | 18443959 | + | |||||||||||
2 | 226 | 18506935 | 18507160 | + | + | + | + | + | + | + | + | + | + | + |
3 | 35 | 18510820 | 18510854 | + | + | + | + | + | + | + | + | + | + | + |
4 | 46 | 18564477 | 18564522 | + | + | + | + | + | + | + | + | + | + | + |
5 | 137 | 18575354 | 18575490 | + | + | + | + | + | + | + | + | + | + | + |
6 | 121 | 18579848 | 18579968 | + | + | + | + | + | + | + | + | + | + | + |
7 | 60 | 18581891 | 18581950 | + | + | + | + | + | + | + | + | + | + | + |
8 | 91 | 18584263 | 18584353 | + | + | + | + | + | + | + | + | + | + | + |
9 | 190 | 18587954 | 18588143 | + | + | + | + | + | + | + | + | + | + | + |
10 | 81 | 18595348 | 18595428 | + | + | + | + | + | + | + | + | + | + | + |
11# | 152 | 18598462 | 18598613 | + | + | + | + | + | + | + | + | + | ||
101 | 18598462 | 18598562 | + | + | ||||||||||
12 | 967 | 18603902 | 18604868 | + | + | + | + | + | + | + | + | + | + | + |
13 | 102 | 18608811 | 18608912 | + | + | + | + | + | + | + | + | + | + | + |
14 | 106 | 18609465 | 18609570 | + | + | + | + | + | + | + | + | + | + | + |
15 | 124 | 18613152 | 18613275 | + | + | + | + | + | + | + | + | + | + | + |
16 | 100 | 18619867 | 18619966 | + | + | + | + | + | + | + | + | + | + | + |
17 | 123 | 18623879 | 18624001 | + | + | |||||||||
18 | 120 | 18625128 | 18625247 | + | + | + | + | + | + | + | + | + | + | + |
19# | 217 | 18628371 | 18628587 | + | + | + | ||||||||
7025 | 18628371 | 18635395 | + | + | + | + | + | + | + | + | ||||
10037 | 18628371 | 18638408 | +XL | +XL | +XL | +XL | +XL | +XL | +XL | +XL | ||||
20 | 84 | 18646007 | 18646090 | + | + | + | ||||||||
21 | 183 | 18650410 | 18650592 | + | + | + | ||||||||
22# | 199 | 18653432 | 18653630 | + | + | + |
# novel exon, splice site or UTR, not previously characterised
$ exon 1cd represents a readthrough of exon 1c to the end of exon 1d
Exon numbers, sizes and co-ordinates for the human CDKL5 gene (GRCh38/hg38 assembly). Exon composition of each transcript isoform is indicated. Starting coordinates for the main TSS of each initial exon are italicised; coordinates of polyadenylation sites in each terminal exon are underlined. Bold indicate exons that contain multiple splice sites. Note that isoform hCDKL5_1 is labelled as having sub-isoforms beginning at each of the alternative first exons, 1a, 1b and 1e; this is also expected to be true for isoforms hCDKL5_2, _3 and _4. A subscripted ‘XL’ symbol signifies usage of a more distal polyadenylation signal and consequently the presence of an extended 3’-UTR.