Table 1.
SALS1 patients | SALS2 patients | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Chr. | Start | Stop | Aberration Size (bps) | Frequency (%) | NeuroArray genes | Chr. | Start | Stop | Aberration Size (bps) | Frequency (%) | NeuroArray genes | |
DUPLICATIONS | 14 | 31552632 | 31552690 | 59 | 76.47 | AP4S1 | 14 | 31552632 | 31552690 | 59 | 76.92 | AP4S1 |
17 | 17716576 | 17720711 | 4136 | 70.59 | SREBF1 | 17 | 17716576 | 17720711 | 4136 | 69.23 | SREBF1 | |
X | 122318451 | 122336599 | 18149 | 70.59 | GRIA3 | 22 | 24376158 | 24384300 | 8143 | 69.23 | GSTT1 | |
X | 122318291 | 122318451 | 161 | 64.71 | GRIA3 | 17 | 17720711 | 17726812 | 6102 | 61.54 | SREBF1 | |
7 | 100493729 | 100493862 | 134 | 58.82 | ACHE | 9 | 129272014 | 129458220 | 186207 | 53.85 | LMX1B | |
X | 122318031 | 122318291 | 261 | 58.82 | GRIA3 | 9 | 131388073 | 131394672 | 6600 | 53.85 | — | |
X | 122336599 | 122459975 | 123377 | 58.82 | GRIA3 | 17 | 17715816 | 17716576 | 761 | 53.85 | SREBF1 | |
17 | 17720711 | 17726812 | 6102 | 52.94 | SREBF1 | 1 | 55331123 | 55527185 | 196063 | 46.15 | DHCR24, PCSK9 | |
7 | 100488043 | 100490289 | 2247 | 47.06 | ACHE | 2 | 127807997 | 128439169 | 631173 | 46.15 | BIN1, LIMS2 | |
7 | 100493373 | 100493729 | 357 | 47.06 | ACHE | 2 | 241657356 | 241728764 | 71409 | 46.15 | KIF1A | |
9 | 131388073 | 131394672 | 6600 | 47.06 | — | 5 | 176853852 | 176869527 | 15676 | 46.15 | GRK6 | |
DELETIONS | 1 | 47716828 | 47775972 | 59145 | 88.24 | STIL | 3 | 155547586 | 155560259 | 12674 | 69.23 | SLC33A1 |
20 | 33986975 | 35569474 | 1582500 | 88.24 | UQCC, NFS1, PHF20, EPB41L1, DLGAP4, NDRG3, TLDC2, SAMHD1 | 20 | 33986975 | 35575306 | 1588332 | 69.23 | UQCC, NFS1, PHF20, EPB41L1, DLGAP4, NDRG3, TLDC2, SAMHD1 | |
20 | 35569474 | 35575306 | 5833 | 82.35 | SAMHD1 | 1 | 47767175 | 47770585 | 3411 | 61.54 | STIL | |
1 | 47435653 | 47716828 | 281176 | 76.47 | STIL | 18 | 9117815 | 9134199 | 16385 | 61.54 | NDUFV2 | |
2 | 32339724 | 32429834 | 90111 | 76.47 | SPAST, SLC30A6 | 3 | 155560259 | 155560361 | 103 | 53.85 | SLC33A1 | |
3 | 155551254 | 155560202 | 8949 | 76.47 | SLC33A1 | 12 | 111956174 | 111993684 | 37511 | 53.85 | ATXN2 | |
9 | 128001127 | 128001733 | 607 | 76.47 | HSPA5 | 1 | 47435653 | 47767175 | 331523 | 46.15 | STIL | |
1 | 47775972 | 47776133 | 162 | 70.59 | STIL | 1 | 47770585 | 47770755 | 171 | 46.15 | STIL | |
2 | 32323849 | 32339724 | 15876 | 70.59 | SPAST, SLC30A6 | 2 | 32314495 | 32409410 | 94916 | 46.15 | SPAST, SLC30A6 | |
2 | 32429834 | 32432100 | 2267 | 70.59 | SPAST, SLC30A6 | 10 | 70432579 | 70441196 | 8618 | 46.15 | TET1 | |
3 | 155547586 | 155551254 | 3669 | 70.59 | SLC33A1 | 14 | 92527804 | 92562372 | 34569 | 46.15 | ATXN3 |
The table lists the gains and losses that occurred in at least 10% of the two previously characterized transcriptome-based SALS subgroups. The chromosomal regions, including the start and end positions, aberration size, frequency in SALS patients and CNV embedded NeuroArray genes are listed. Chromosomal positions are referred to the human reference sequence hg19 assembly. Genes previously identified as potential risk factors in ALS are in bold.