Fig. 2: De novo variants in non-coding genes RNU4-2 and CHASERR. | npj Genomic Medicine

Fig. 2: De novo variants in non-coding genes RNU4-2 and CHASERR.

From: Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay

Fig. 2

a De novo small variants in the critical region of RNU4-2 in Pt0712 and Pt2092. Lollipop plot: Pathogenic/Likely pathogenic variants in ClinVar (https://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/clinvar_20250608.vcf.gz). Green rectangle: RNA secondary structure. Heatmap plot: aggregated allele counts of single-nucleotide variants at each genomic position, derived from gnomAD v4.1.0 (https://gnomad.broadinstitute.org/data). b De novo deletion affecting CHASERR in Pt2190. Shown is an IGV view of read coverage and reads supporting the deletion. Read coloring follows the conventions of IGV for paired-end alignments (https://igv.org/doc/desktop/#UserGuide/tracks/alignments/paired_end_alignments).

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