Skip to main content
Fig. 2 | BMC Genomics

Fig. 2

From: Characteristics of allelic gene expression in human brain cells from single-cell RNA-seq data analysis

Fig. 2

Effects of functionally disrupted alleles on expression in human brain cells. a Boxplots showing the numbers of adult21 brain cells expressing reference (R) or alternative (A) alleles (allelic read depth ≥ 2). Each point represents a heterozygous SNP whose classification was derived from the exome summary results by wANNOVAR annotation (see Methods). b Boxplots showing the percentages of reference reads (vs total reads) at hetSNPs sites in adult21 brain cells (read depth for each of the alleles was ≥2 and the sum of read depths was ≥10). The SNV classification of hetSNPs: S, synonymous (n = 559); N, non-synonymous (n = 435); L, stoploss (n = 6); G, stopgain (n = 6). SIFT classification: S, synonymous (n = 578); T, tolerated (n = 340); D, deleterious (n = 77). Polyphen2_HDIV classification: S, synonymous (n = 587); B, benign (n = 387); P, possibly damaging (n = 49), D: probably damaging (n = 72). Polyphen2_HVAR classification: S, synonymous (n = 587); B, benign (n = 315); P, possibly damaging (n = 43), D: probably damaging (n = 50). As the numbers of functionally disrupted SNPs were small, we also plotted individual points with summary statistics illustrated by boxplots. Note that a SNP expressed in multiple cells would appear as multiple points in panel b. Results for other individuals were in Additional file 1: Figures S5 and S6

Back to article page