Regulation of gene expression |
Multiple highly recurrent, large CNVs, MeCP2, MBD5, CHD3, CHD7, CHD8, EHMT1, FOXP2 |
Neuronal morphogenesis; Axon and dendrite growth and branching. Experience-dependent synapse modification; Synaptic plasticity |
Pre-mRNA splicing |
A2BP1/FOX1 |
Many |
Protein localization, translation, turnover |
FMR1, CYFIP1, NHE6I9, UBE3A |
Neuronal morphogenesis; Axon and dendrite growth and branching; Experience-dependent synapse modification; Synaptic plasticity |
Synaptic transmission |
CACNA1C, CACNA1H, RIMS3, SYN1, GRIK2 |
Experience-dependent synapse modification; Synaptic plasticity |
Cell signaling |
TSC1/2, PTEN, MAPK3, MET, PTCHD1, RELN |
Neuronal morphogenesis; Axon and dendrite growth and branching. Experience-dependent synapse modification; Synaptic plasticity |
Synaptic scaffolding and cytoskeletal proteins |
AHI1, SHANK2/3 |
Experience-dependent synapse modification. Synaptic plasticity |
Neuronal cell adhesion |
CNTNAP2, NLGN3, NLGN4X, IL1RAPL1, NRXN1, CNTN4 |
Neuronal morphogenesis, Axon and dendrite growth and branching; Experience-dependent synapse modification; Synaptic plasticity |