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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki–Lupski syndrome diagnosis

Fig. 2

Genomic structure of 17p11.2 CNV and ChromHMM ENCODE regulatory sites. (Top) The maternally inherited deletion spans a maximum of about 688 kb and encompasses 9 genes (white). Arrows represent gene orientation. (Bottom) Enlarged region of deletion shows that the maximum distal breakpoint leaves RAI1 coding regions (white) intact. ChromHMM annotated regulatory sites within H1-hESC from ENCODE are labeled directly underneath. Red = active promoter including transcriptional start site, pink = inactive promoter, dark grey = polycomb repressed, yellow = weak enhancer, light green = low activity sites, and blue = insulator sites

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Molecular Cytogenetics

ISSN: 1755-8166