Fig. 1
(Data source: http://igv.org/)
Genomic structure of CDKN2B-AS1 locus and the common genetic single nucleotide polymorphisms with phenotypic traits. a CDKN2B-AS1 is located at the human CDKN2A/B locus at 9p21.3, and spans a nearly 350 kb genomic region. b It contains three protein-coding genes (red) along with the CDKN2B-AS1 lncRNA (blue). The protein-coding genes include (1) S-methyl-5′-thioadenosine phosphorylase (MTAP), (2) CDKN2A that encodes splice variants p16INK4A and p14ARF", and (3) CDKN2B that encodes p15INK4B". MTAP lies at one end of the locus, 192 kb telomeric to the 5′ start of CDKN2B-AS1. The selected variant for the present study is shown. ARF alternate reading frame, CDK cyclin-dependent kinase. c At the centromeric end of the locus, CDKN2B-AS1 has a 19–21 exon span over a 126 kb region. CDKN2A lies between CDKN2B-AS1and MTAP. The CDKN2B-AS1 first exon is located 300 bp upstream of ARF in the transcription start site; CDKN2B (two exons) is located within the CDKN2B-AS1 first intron, in an antisense direction. (Data source: http://ensembl.org). d The common genetic single nucleotide polymorphisms with phenotypic traits from Genome-Wide Association Studies screening for 9p21.3 locus. Diseases (black) and cancer (red) traits are illustrated. The studied SNP (green) is shown near the end of the CDKN2B-AS1 gene