Fig. 2: Enrichment of functional annotations of the human genome for the Sertoli cell-only (SCO)-associated polymorphisms rs34915133 and rs10842262 (highlighted in red) as well as their proxies. | Communications Biology

Fig. 2: Enrichment of functional annotations of the human genome for the Sertoli cell-only (SCO)-associated polymorphisms rs34915133 and rs10842262 (highlighted in red) as well as their proxies.

From: Trans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndrome

Fig. 2

The different functional features are represented with specific colors, with color grade correlating with the probability of functional impact for each tested variant (darker colors indicate higher probability). This figure summarized the information provided in Supplementary Table 2. CADD combined annotation dependent depletion score, ChIP-seq proteins bound from chromatin immunoprecipitation flowing by sequencing experiments in the testis (using ENCODE data), eQTL expression quantitative trait locus effects in the testis, GRCh38 genome reference consortium human build 38, sQTL splicing quantitative trait locus effects in the testis, TFBS transcription factor binding sites modifications related to transcription factors involved in spermatogenesis based on protein weight matrix data.

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