Fig. 1

Prioritizing rs304152 as a potential functional SNP in intronic region of MEF2C associated with ALS. (A) A research flow starting from ALS and SCZ GWAS meta-analysis data and extracting functional features for each SNP, then using CNN model to initialize the candidate risk-SNPs followed by filtering, target gene assignment and LD sharing steps. (B) The CNN model performance for prediction of testing blocks for ALS and SCZ model. (C) The prediction score for each SNP in the association block contains MEF2C gene body. Green stars are candidate SNPs. (D) Active regulatory regions coverage and peaks marked by H3K27ac in frontal cortex extracted from GTEX IGV browser. (E) The LD plots for the region from 88.7 to 88.9 Mb in chromosome 5 including candidate SNPs. LD block structure was estimated with the Haploview software. The red brocket, rs304152, is the chosen SNP which has the high LD scores with other blue brocket candidate risk-SNPs, rs700587, rs304153 and rs304151. (F) Violin plots of the MEF2C normalized expression level according to alleles of rs304152 in different brain regions. The information was extracted from GTEX database