Fig. 1.

RNAseq analysis predicts CHRFAM7A effect on the synapse as a structure. a. Relevant sample and data distribution in the ROSMAP study. b. Demographic characterization of the cohort with RNAseq and SRM proteomics data. c. Kernel distribution of Aβ peptide quantified by SRM in disease groups in the ROSMAP cohort demonstrates disease relevance (created with BioRender.com). d. Aβ peptide and CHRFAM7A gene expression associated pathways (red, upregulated, blue downregulated) using a multivariable regression model. Aβ associated pathways align with AD related neurodegeneration including increased ECM and decreased metabolism. CHRFAM7A top 3 pathways are related to the synapse without neurotransmitter specificity suggesting a functional role in the synapse as a structure. e. Heatmap depicting the leading edges of the top pathway positively associated with CHRFAM7A expression. f. Pie chart depicting the frequency of cytoskeleton (48%) and Ca2+ signalling (19%) associated genes in top 100 positively correlated genes with CHRFAM7A. g. Pie chart depicting the distribution of structural gene categories. h. Violin plots of cytoskeleton (top panel) and Ca²⁺ signalling associated genes (bottom panel) in CHRFAM7A gene expression quartiles. To compare the difference of means between quartiles, Kruskal–Wallis test (non-parametric ANOVA) was performed.