From: Impairment of translation in neurons as a putative causative factor for autism
Gene | Source database | GenBank protein GI/brief description | # rare synonymous variants (AVs) | # reconstructed synonymous mutations | # common synonymous SNPs |
---|---|---|---|---|---|
AUTS2 | AutDB | 17225457/autism-related protein 1 | 1 | 2 | 2 |
CADPS2 | AutDB | 148839294/calcium-dependent secretion activator 2 | 2 | 5 | 3 |
FOXP2 | AutDB | 298566291/forkhead box protein P2 | 1 | 4 | 2 |
FMR1 | AutDB | fragile X mental retardation 1 | 1 | 4 | 3 |
GRM1 | AGRE | 166999098/metabotropic glutamate receptor 1 | 4 | 8 | 5 |
GRM5 | AGRE | 4504143/metabotropic glutamate receptor 5 | 7 | 3 | 5 |
HRAS | AGRE | 34222246/GTPase HRas | 1 | 0 | 1 |
MAP2K1 | AGRE | 5579478/dual specificity mitogen-activated protein kinase 1 | 1 | 0 | 1 |
MAP2K2 | AGRE | 13489054/dual specificity mitogen-activated protein kinase 2 | 3 | 4 | 4 |
MECP2 | AutDB | 1708973/Methyl-CpG-binding protein 2 | 9 | 2 | 1 |
NLGN3 | AutDB | 262359971/neuroligin-3 | 1 | 0 | 1 |
NRXN1 | AutDB | 154813843/neuronal cell surface protein NRXN1-α | 5 | 10 | 2 |
PIK3CA | AGRE | 54792082/phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit | 4 | 2 | 3 |
RBFOX1 | AutDB | 22538409/RNA binding protein fox-1 homolog 1 | 3 | 6 | 1 |
SHANK2 | AutDB | 254763402/SH3 and multiple ankyrin repeat domains protein 2 | 8 | 6 | 3 |
SHANK3 | AutDB, AGRE | 380748963/SH3 and multiple ankyrin repeat domains protein 3 | 27 | 4 | 9 |
TSC1 | AGRE | 4507693/tuberous sclerosis gene TSC1 | 3 | 2 | 2 |
TSC2 | AGRE | 116256352/tuberous sclerosis 2 protein | 5 | 11 | 8 |
UBE3A | AGRE | 19718764/ubiquitin-protein ligase E3A | 1 | 3 | 5 |