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. 2020 Aug 14;1(1):100008. doi: 10.1016/j.xhgg.2020.100008

Figure 3.

Figure 3

Germline and somatic de novo variants, identified via RUFUS, in CDH probands

(A) De novo germline and somatic variants unique to a single tissue and shared between two tissues (coding, gene-associated non-coding, or non-gene-associated variants) were found in the 4 CDH probands. 5 genes (PEX6, SCARB1, OLFM3, ZNF792, AR, and THSD7A) contained germline coding variants. Genes with coding variants are highlighted in red. #/#/# = exon (coding) variants/UTR + intron variants/intergenic variants.

(B) Five genes with germline de novo coding variants overlaid on all genes expressed in mouse PPFs at E12.5 (ZNF792 has no mouse ortholog). RNA-seq reads normalized using TPM. Black line denotes TPM = 0, and red dashed line denotes TPM = 10. Only SCARB1, PEX6, and THSD7A are expressed in the PPFs at approximately ≥10 TPM.