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. Author manuscript; available in PMC: 2019 May 31.
Published in final edited form as: Cell. 2018 May 31;173(6):1356–1369.e22. doi: 10.1016/j.cell.2018.03.051

Figure 1. NOTCH2NL is located in a neurodevelopmental disease locus and exhibits variable gene and protein features.

Figure 1

(A) Location of NOTCH2NL genes (red) and additional genes derived from human segmental duplication (light blue). TAR syn=Thrombocytopenia Absent Radius syndrome. (B) Gene and protein features of NOTCH2 and NOTCH2NL. (C) De novo assembly result of NOTCH2NL loci for H9 human ESCs and relative allele expression from week 5 cortical organoids. *Not enough nucleotide differences present to distinguish between the two NOTCH2NLsh-2ntdel alleles. (D) Observed NOTCH2NL paratypes in 15 individuals. See also Fig. S1, S3, Table S1, S4.