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Figure 4 | Genome Biology

Figure 4

From: OncoCis: annotation of cis-regulatory mutations in cancer

Figure 4

Example of a potential cis- regulatory mutation associated with CDK6 . (A) Summary of OncoCis annotations of a mutation that is strongly suggestive of altering cis-regulation of CDK6. (B) Distribution of expression level of CDK6 in the sample with the potential cis-regulatory mutation (red) and samples without cis-regulatory mutations of CDK6 (black). (C) Illustration of the location of the potential cis-regulatory mutation within intron 4 of CDK6 along with its relative position to HMEC DHS, H3K4me1 and H3K27ac peaks. The potential for the mutation to alter the THAP transcription factor consensus binding site is shown along with cross-species conservation of the mutated base and its adjacent sequences in mammals. (D) Luciferase reporter assays for the putative CDK6 enhancer (chr7:92,347,263-92,347,759) showing control (SV/luc), wild-type sequence (SV/luc/CDK6wt), and chr7:92,347,495 G > C mutation (SV/luc/CDK6mut) in the HCC1143 breast cancer cell line. The results depicted are representative of three independent experiments.

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