TABLE 4.
RNAseq results of positive CNVs detected in this ASD cohort.
| ID | Chromosome region | Type of change | gene_in_cnv | RNA_in_cnv | zScore_ chr | zScore_ cnv | zScore_ random1 | zScore_ random2 | zScore_ random3 | log2fc_ chr | log2fc_ cnv | log2fc_ random1 | log2fc_ random2 | log2fc_ random3 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ASD0018 | 22q11.2 | Duplication | 92 | 38 | 0.04 | 0.38 | −0.1 | 0.145 | 0.095 | −0.01 | 0.05 | −0.015 | 0.015 | 0 |
| ASD0027 | 7q11.23 | Duplication | 35 | 16 | 0.095 | 3.745 | 0.345 | 0.245 | −0.155 | 0 | 0.48 | 0.03 | 0.02 | −0.01 |
| ASD0060 | 2p16.3 | deletion | 1 | 0 | - | - | - | - | - | - | - | - | - | - |
| ASD0144 | 16p13.11 | duplication | 42 | 17 | −0.06 | 2.3 | −0.29 | −0.03 | 0.5 | −0.015 | 0.38 | −0.06 | −0.01 | 0.06 |
| ASD0203 | 15q11q13 | duplication | 122 | 3 | 0.06 | 2.56 | 0.8 | −0.09 | −0.85 | 0 | 0.38 | 0.1 | −0.03 | −0.12 |
| ASD0214 | 3q26 | deletion | 15 | 1 | 0.03 | −4.86 | −1.26 | 1.74 | 0.69 | −0.01 | −0.41 | −0.1 | 1.12 | 0.19 |
| ASD0222 | 3q29 | deletion | 59 | 22 | 0.05 | −5.025 | 0.205 | −0.23 | 0.01 | 0 | −0.775 | 0.01 | −0.04 | −0.005 |
| ASD0330 | 15q11q13 | duplication | 130 | 5 | −0.01 | 1.41 | 0.31 | −0.23 | 0.46 | −0.01 | 0.32 | −0.06 | −0.04 | 0.09 |
| ASD0343 | 1q21.1 | duplication | 99 | 18 | 0.07 | 2.075 | 0.205 | 0.12 | −0.065 | 0 | 0.385 | 0.02 | 0.005 | −0.015 |
Gene_in_cnv: gene numbers involved in CNV; RNA_in_cnv: gene numbers expressed in blood of the CNV; zScore_chr: Z-score value of the whole chromosome of the CNV; zScore_cnv: Z-score value of the CNV; zScore_random1/2/3: Z-score value of randomly selected non-mutated locations on the chromosome where the CNV is located; log2fc_chr: log2-fold change value of the whole chromosome of the CNV; log2fc_cnv: log2-fold change value of the CNV; log2fc_random1/2/3: log2-fold change value of randomly selected non-mutated locations on the chromosome where the CNV is located.