Table 3. “ENS genes” that are a CCR in rare CN losses and that have a zebrafish orthologue.
| ExAC/ GnomAD intolerance scores | |||||||
|---|---|---|---|---|---|---|---|
| Patient | RSNC | Gene | Missense Z | pLI | Deletion single | Deletion CNV | CNV region |
| P_000479 | 4,16 | SLC8A1 | 2.23 | 1.00 | -0.02 | 0.31 | chr2:40,624,267–40,646,501 |
| P_000512 | 8,31 | TUBB # | 5.71 | 0.98 | -2.85 | -1.72 | chr6:28,005,012–31,683,185 |
| GNL1 | 2.52 | 1.00 | 1.03 | 0.70 | |||
| GABBR1 | 4.98 | 1.00 | 1.36 | 1.23 | |||
| P_000537 | 6,92 | MAPK8 | 2.92 | 1.00 | 0.84 | -2.25 | chr10: 49,033,586–52,431,193 |
| P_000561 | 6,08 | UFD1L | 2.77 | 1.00 | 1.06 | -2.53 | chr22:18,861,209–21,630,630 |
| P_000567 | 7,98 | TBX2 | 1.75 | 0.99 | -0.01 | 0.53 | chr17:58,076,721–60,362,868 |
| USP32 | 3.55 | 1.00 | -2.85 | -0.93 | |||
| P_002431 | 9,37 | AKT3 | 4.03 | 1.00 | -2.61 | -1.20 | chr1:243,963,527–244,016,804 |
Genes marked with an # also have a loss of function variant in an independent HSCR cohort (see Table 4). Depicted are the risk score non coding (RSnc)(see S7 Table) and the CNV and variant intolerance scores (missense Z/pLI) derived from http://gnomad.broadinstitute.org/ and http://exac.broadinstitute.org/about.