Table 2 Biological processes significantly enriched among genes carrying a higher number of rare or low frequency variants in Dup7 carriers
From: Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
Outcome phenotype | Variable | Pathway category | Pathway/function | Number of genes in pathway | Number of observed variants | B (coefficient) | P value | FDR |
|---|---|---|---|---|---|---|---|---|
BroadInd SS | Likely damaging missense variants (5%) | Neuroset | Brain Pre-natal (PC1 bottom 33%) | 3038 | 451 | − 2.75 | 3.10 × 10–3 | 0.078 |
CSS | LoF variants (5%) | Neuroset | Brain low/absent expression | 4601 | 145 | 0.574 | 3.19 × 10–3 | 0.078 |
LoF variants (5%) | Neuroset | Genic intolerance, very low (Q1) | 4153 | 164 | 0.662 | 5.87 × 10–3 | 0.078 | |
GCA | LoF variants (1%) | Neuroset | Nervous System Development | 1874 | 8 | − 25.2 | 2.28 × 10–3 | 0.074 |
LoF variants (1%) | GO | Side of membrane [GO:0098552] | 426 | 3 | − 43.0 | 3.61 × 10–4 | 0.148 | |
LoF variants (1%) | GO | External Side of Plasma Membrane [GO:0009897] | 232 | 3 | − 43.0 | 3.61 × 10–4 | 0.148 |