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. Author manuscript; available in PMC: 2022 Jan 11.
Published in final edited form as: Cancer Cell. 2021 Jan 11;39(1):83–95.e4. doi: 10.1016/j.ccell.2020.12.011

Figure 4: Assessing aberrant splicing in CREBBP caused by somatic splice site variants.

Figure 4:

(A) Zoomed-out “dense” Cohort View of somatic SNV/indels across the genomic region encoding CREBBP. Dots represent variants, where color indicates mutation class and size corresponds to the number of cases. Zoomed-in detail shows a recurrent variant (detected in 4 (0.3%) out of 1,201 B-ALL samples analyzed by WGS or WES) disrupting the canonical splice donor site (cyan) in intron 20.

(B) Variant tooltip panel for the variant from (A), showing the four harboring tumors, matching dbSNP ID, and pathogenic ClinVar classification.

(C) Sample View of one of the tumors (PANWHJ) showing RNA-seq splice junction and coverage. In the splice junction track, dot size and Y-axis position indicates junction read count. A novel junction (box arrow) skips exon 20. Diagram of this exon skipping event (box detail) displays junction read counts and translation frame prediction (in-frame).

(D) CREBBP view of NM_004380, with the same set of tracks in (C). The RING domain (blue) spans exons 19 to 21.

See also Figure S2. Live link: https://proteinpaint.stjude.org/gp/crebbp.splicesite.html