From: Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease
Genes by gene class | GenBank accession number (reference transcript*) | GenBank accession number (variant transcript*) | Alternative splicing event: change of mRNA transcript composition in AD†| Alternatively spliced region | Splice array p value |
---|---|---|---|---|---|
Calcium channels | Â | Â | Â | Â | Â |
CACNA1A | NM_023035 | CQ723237 | ASA: 23% ↓ reference/total ratio | EXON 23 | 0.007 |
 | NM_023035 | U79668 | ASD: 36% ↓ variant/reference ratio | EXON 48 | 0.022 |
CACNA1C | NM_000719 | CQ722691 | ASD: 19% ↑ reference/total ratio | EXON 27 | 0.033 |
CACNA1G | NM_018896 | NM_198376 | PIED: 14% ↓ variant/reference ratio | EXON 36 | <0.001 |
CACNA1I | NM_001003406 | AX068892 | ASD: 29% ↓ variant/total ratio | EXON 16 | 0.049 |
CACNA2D1 | NM_000722 | BG210356 | NE: 55% ↑ reference/total ratio | INTRON 3 | 0.021 |
Chloride channels | Â | Â | Â | Â | Â |
CLCN2 | NM_004366 | BC021578 | ES: 14% ↓ reference/total ratio | EXON 13 | 0.041 |
 | NM_004366 | BF002578 | NE: 38% ↓ variant/total ratio | 3' downstream | 0.042 |
CLCN6 | NM_001286 | NM_021736 | ES: 15% ↓ reference/total ratio | EXON 12 | 0.022 |
CLCNKA | NM_004070 | CQ733615 | ASD: 27% ↓ variant/reference | EXON 15 | 0.039 |
Sodium channels | Â | Â | Â | Â | Â |
SCN2A2 | NM_021007 | CQ730725 | ES: 16% ↓ variant/total ratio | EXON 11 | 0.023 |
SCN7A | NM_002976 | BC062699 | ES: 39% ↓ reference/total ratio | EXON 1 | 0.027 |
SCNN1D | NM_002978 | AX230571 | ASA: 17% ↓ variant/reference ratio | EXON 1 | 0.045 |
Potassium channels | Â | Â | Â | Â | Â |
KCNAB1 | NM_172160 | NM_172159 | NE: 21% ↓ variant/reference | INITRON 1 | 0.028 |
KCNAB2 | NM_003636 | AI933060 | NE: 51% ↓ variant/total ratio | 3' downstream | 0.017 |
 | NM_003636 | AI090677 | NEs: 105% ↑ variant/reference ratio | INTRON 7 | 0.039 |
 | NM_003636 | BM925038 | PIED: 65% ↑ variant/reference ratio | EXON 16 | 0.045 |
KCNF1 | NM_002236 | AI566537 | PIED: 51% ↑ variant/reference ratio | EXON 1 | 0.045 |
KCNG1 | NM_172318 | BF569197 | ASD: 23% ↓ variant/reference ratio | EXON 1 | 0.005 |
 | NM_172318 | AI968477 | ASD: 28% ↑ reference/total ratio | EXON 1 | 0.031 |
KCNH5 | NM_172376 | NM_139318 | ES: 14% ↑ reference/total ratio | EXON 11 | 0.033 |
KCNMB2 | NM_181361 | NM_005832 | NEs: 25% ↓ variant/total ratio | INTRON 1 | 0.030 |
KCNN1 | NM_002248 | BX106650 | ASD: 47% ↑ reference/total ratio | EXON 6 | 0.004 |
 | NM_002248 | BM718136 | ASD: 39% ↑ reference/total ratio | EXON 6 | 0.015 |
KCNQ2 | NM_004518 | NM_172107 | NE: 70% ↑ variant/reference ratio | INTRON 10 | 0.038 |
 | NM_004518 | BG772772 | NEs: 55% ↑ variant/reference ratio | EXONS 7-9 | 0.016 |
KCNQ3 | NM_004519 | CQ725469 | PIED: 47% ↓ reference/total ratio | EXON 15 | 0.036 |
GABA receptors | Â | Â | Â | Â | Â |
GABRA3 | NM_000808 | AX897950 | ES: 48% ↑ reference/total ratio | EXON 7 | 0.037 |
GABRA5 | NM_000810 | AL035782 | EsS: 65% ↑ variant/reference ratio | EXONS 2/3 | 0.030 |
GABRA6 | NM_000811 | AK090735 | IR: 72% ↓ variant/total ratio | INTRON 6 | 0.037 |
Ionotropic glutamate receptors | Â | Â | Â | Â | Â |
GRIK2 | NM_021956 | CQ715784 | ASD: 57% ↓ reference/total ratio | EXON 10 | 0.007 |
GRIK4 | NM_014619 | CQ734018 | NEs: 35% ↓ variant/total ratio | INTRON 1 | 0.006 |
GRIK5 | NM_002088 | AJ249209 | NE: 52% ↑ variant/reference ratio | INTRON 18 | 0.037 |
Transient receptor potential cation channels | Â | Â | Â | Â | Â |
TRPM7 | NM_017672 | CQ728707 | ES: 6% ↓ reference/total ratio | EXON 4 | 0.048 |
FXYD domain ion transport regulators | Â | Â | Â | Â | Â |
FXYD5 | NM_014164 | BU164524 | NE: 36% ↓ variant/reference ratio | INTRON 1 | 0.030 |
Inositol triphosphate receptors | Â | Â | Â | Â | Â |
ITPR1 | NM_002222 | CQ719499 | ES: 15% ↓ reference/total ratio | EXON 23 | 0.030 |
Two pore segment channels | Â | Â | Â | Â | Â |
TPCN1 | NM_017901 | BG899733 | NE: 49% ↑ variant/reference ratio | INTRON 1 | 0.016 |
Mucolipin | Â | Â | Â | Â | Â |
MCOLN1 | NM_020533 | CA489568 | ASD: 95% ↑ variant/reference ratio | EXON 7 | 0.026 |
 | NM_020533 | AJ293659 | IR: 33% ↑ variant/total ratio | INTRON 5 | 0.032 |
Ryanodine receptors | Â | Â | Â | Â | Â |
RYR1 | NM_000540 | CQ717972 | PIED: 30% ↑ reference/total ratio | EXON 91 | 0.011 |
 | NM_000540 | CQ730824 | ES: 35% ↑ variant/reference ratio | EXON 35 | 0.042 |
Miscellaneous other ion channels/interacting proteins | Â | Â | Â | Â | Â |
TM4SF11 (plasmolipin) | NM_015993 | R16034 | NE: 21% ↑ variant/reference ratio | INTRON 1 | 0.016 |
GMRP-1 (potassium channel tetramerization protein) | NM_032320 | BG722430 | NE: 26% ↑ variant/reference ratio | INTRON 1 | 0.031 |