TABLE 5.
RNAseq results of positive SNVs detected in this ASD cohort.
| ID | Gene | Nucleotide change | Type of mutation | Ensemble ID | Express in blood | Patient RNA expression level | Mean RNA expression level |
|---|---|---|---|---|---|---|---|
| ASD0046 | ASH1L | c.8595delT | Frameshift | ENSG00000116539 | yes | 1,196.02 | 1,206.834 |
| ASD0061 | EP300 | c.4242T>G | Non-sense | ENSG00000100393 | yes | 2520.55 | 2718.56 |
| ASD0063 | SCN2A | c.4550_4551del | Frameshift | ENSG00000136531 | no | - | - |
| ASD0134 | ADNP | c.2156_2157insA | Non-sense | ENSG00000101126 | yes | 1,663.37 | 1791.54 |
| ASD0148 | SHANK3 | c.4728_4740del | Frameshift | ENSG00000251322 | no | - | - |
| ASD0162 | NF1 | c.7395-2A>T | Splicing | ENSG00000196712 | yes | 534.96 | 615.19 |
| ASD0219 | PRKD1 | c.41_71del | Frameshift | ENSG00000184304 | no | - | - |
| ASD0221 | SCN2A | c.605 + 1G>A | Splicing | ENSG00000136531 | no | - | - |
| ASD0294 | PTEN | c.546dupA | Frameshift | ENSG00000171862 | yes | 3095.66 | 3948.45 |
| ASD0326 | SCN2A | c.1570C>T | Non-sense | ENSG00000136531 | no | - | - |
Patient RNA expression level: The RNA expression quantity of indicated gene of the index ASD patient; Mean RNA expression level: The average value of RNA expression quantity of the indicated gene in total 354 ASD patients.