Fig. 5: Distribution of IRAVs in genes with frequent IRAVs. | Nature Communications

Fig. 5: Distribution of IRAVs in genes with frequent IRAVs.

From: Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data

Fig. 5

a, c, d Frequencies of putative pathogenic IRAVs for each pathogenic tier at each splice-site are shown in a TP53, c NF1, and d SMARCA4. b The catalog of IRAVs at the TP53 exon 4 donor site identified in this study. All substitution patterns at the essential splice site, the last exonic base, and the 5th intronic base were covered, as well as several deletions.

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