Figure 4.
Functional RNA-seq study demonstrated significant transcriptional stability deficiencies for both noncoding variants. (A) For case 2 (DBAS8/RPS7), robust intron retention extending to RPS7 c.-19+98 (red arrow and frame) was revealed in the proband and mother only when compared with father and controls with the aberrant transcript usage rate shown below. (B) Zoomed-in view of the +98 intron retention demonstrating the new transcript usage rate. (C) RNA functional evidence showing that the c.-19G>C variant is confined to those transcripts with retention. (D) For the DBAS1/RPS19 case, a novel exon 3′ (red arrow) immediately upstream of the RPS19 c.172+350C>T variant was identified uniquely in the proband when compared with controls. (E) New exon 3′ usage rate and sequence analysis depicting unique junctional splicing and several stop-gain codons within the 81-bp novel exon 3′. UDN, undiagnosed diseases network.

Functional RNA-seq study demonstrated significant transcriptional stability deficiencies for both noncoding variants. (A) For case 2 (DBAS8/RPS7), robust intron retention extending to RPS7 c.-19+98 (red arrow and frame) was revealed in the proband and mother only when compared with father and controls with the aberrant transcript usage rate shown below. (B) Zoomed-in view of the +98 intron retention demonstrating the new transcript usage rate. (C) RNA functional evidence showing that the c.-19G>C variant is confined to those transcripts with retention. (D) For the DBAS1/RPS19 case, a novel exon 3′ (red arrow) immediately upstream of the RPS19 c.172+350C>T variant was identified uniquely in the proband when compared with controls. (E) New exon 3′ usage rate and sequence analysis depicting unique junctional splicing and several stop-gain codons within the 81-bp novel exon 3′. UDN, undiagnosed diseases network.

This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal