Fig. 5: Several SNVs in B2M are associated with alternate acceptor and alternate donor usage. | Nature Communications

Fig. 5: Several SNVs in B2M are associated with alternate acceptor and alternate donor usage.

From: Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer

Fig. 5

A IGV snapshot of three intronic variant positions (GRCh38—chr15:g.44715421A>G, chr15:g.44715422G>T, chr15:g.44715702G>C) found to be associated with alternate acceptor and donor usage that leads to the formation of unknown transcript products. This result was found using the default splice variant window parameter (i2e3). B Zoomed in view of the variants identified by RegTools that are associated with alternate acceptor and donor usage. Two of these variant positions flank the acceptor site and one variant flanks the donor site of the area that is being affected. C Sashimi plot visualizations for samples containing the identified variants that show (1) alternate acceptor usage (red) or (2) alternate donor usage (orange).

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