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. 2019 Jul 10;9:9968. doi: 10.1038/s41598-019-46355-w

Table 1.

The top most frequent copy number gain and loss in both SALS patient subgroups.

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.