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. 2022 Apr 8;11(8):1260. doi: 10.3390/cells11081260

Figure 1.

Figure 1

Schematic representations of NR2F1 gene localization, expression profile and pathogenic point variants. The human NR2F1 gene, located on chromosome 5 (region 5q14–q15), codes for a 3.824 base pairs (bp)-long transcript containing three distinct exons, translated into a 423 amino acid (aa)-long protein (Source: Human hg38 chr5:93583222-93594611 UCSC Genome Browser v427). The NR2F1 expression profile in different tissues and organs is shown as normalized transcript per million (nTPM). Source: human transcriptome dataset at Human Protein Atlas (HPA) (Query: ENSG00000175745-NR2F1). NR2F1 haploinsufficiency in BBOSAS patients is caused by gene deletion or by loss-of-function mutations affecting one allele. Small indels and point variants (black asterisks) tend to fall in the ATG starting codon (1), in the DBD (2) or in the LBD (3). Protein truncations (or frameshift variants followed by truncation at variable distance) are listed with a grey asterisk (4). All variants indicated by asterisks are also listed in the boxes, grouped by gene region or variant type. Whole-gene deletions, not shown here, are listed together with point variants in Table 1.