Fig. 3

Variant annotation pipeline. This figure illustrates the pipeline for processing three genetic variations identified by exome sequencing as potential causative de novo point mutations in sporadic autism spectrum disorders. The symbols used in this figure are the same as in Fig. 2. The analysis starts by lifting the genomic coordinates of the three point mutations from the originally provided NCBI36 coordinates to GRCh37. Conservation and variation consequence information is added before the affected genes are identified. Ultimately, pharmacological information is retrieved for the three proteins affected by each of the point mutations