Figure 2
From: Point-of-care whole-exome sequencing of idiopathic male infertility
Expression patterns of genes harboring putatively damaging variants in nonobstructive azoospermia (NOA) families. (a) Gene expression heat map of all 12 genes harboring rare, predicted damaging recessive variants in NOA families. For each family, expression patterns for all genes surviving stringent filtration were retrieved from the Human Protein Atlas and plotted in a heat map as described in Materials and Methods. Six families had such variants (Supplementary Table S2 online), revealing five candidate genes with testis-specific expression (in bold type and replotted in (b) to demonstrate tissue-specificity). *Additional variants in this gene found in the idiopathic NOA cohort (Table 3); +Mouse model also infertile due to abnormal spermatogenesis (Table 2). RKPM, reads per kilobase per million. (b) Five candidate infertility genes with highly specific testis expression. Normalized expression data obtained from the Human Protein Atlas (http://www.proteinatlas.org; see Materials and Methods for details)29 is plotted for the five candidate genes of interest across a wide range of tissues, sorted first by increased testis expression levels and then by increased expression in other tissues (additional details in Supplementary Figure S2 online).
