Fig. 4

Schematic representation of human NSD1 protein domain organization. Vertical lines represent the site of intron splicing. From left to right: PWWP, PHD1, PHD6 = variant C5HC3 PHD finger 6. AWS = pre-SET domain. NID = nuclear receptor-interaction. NLS = nuclear localization signals. Most of the deletions, insertions, and nonsense variations occur in the NLS1 domain, missense in the PHD 5 and 6 domain and splice-site in the PWWP 2, PHD 3 and 4 domain. SMART predicted functional and catalytic domains, vertical lines represent sites of introns, pink rectangles represent low complexity regions and green rectangle coiled coil region. Simple predicted architecture is formed by 10 functional domains, PWWP 1–2, PHD 1–4, RING, AWS, SET and Post-SET