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. Author manuscript; available in PMC: 2016 Dec 1.
Published in final edited form as: Lancet Oncol. 2015 Oct 28;16(16):1659–1666. doi: 10.1016/S1470-2045(15)00369-1

Figure 2. ETV6 variants identified by targeted sequencing in 4,405 unselected ALL cases.

Figure 2

(A) ETV6 was sequenced using Illumina HiSeq platform following capture-based enrichment of this genomic region in 4,405 unselected ALL cases. Variants in non-ALL controls were based on publicly available data from the NHLBI Exome Sequencing Project cohort (N=6,503). Exnoic variants are classified as frameshift, nonsense, missense, and splicing (green, blue, red, or orange solid circles, respectively) for ALL cases (green vertical lines) and non-ALL controls (gray vertical lines). Functional domains are indicated by color based on Pfam annotation. Each circle represents a unique individual carrying the indicated variant (heterozygous or homozygous) except variants recurring in more than 10 individuals for which the number in the circle indicates the exact frequency. (B) ALL-related ETV6 variants are highly enriched in the ETS domain which consists of 3 helices (yellow boxes) and 4 β-sheets (yellow arrows). H3 is responsible for direct binding with DNA, which is negatively regulated by the CID domain (H4 and H5, orange boxes) at the C-terminal. Variant function is denoted by the color of each line.