Fig. 2.

Consequences of the rs2277460 (Panel A) and rs1048990 (Panel B) nucleotide substitutions on functional potential of corresponding genomic regions of the PSMA6 gene. Promoter and exon are coloured in white, 5′-UTR is coloured in grey; sequences of coding and noncoding genes' regions are presented by capital and small letters respectively. Positive and negative DNA strands are indicated by capital letters P and N respectively. The transcription factors family and matrix names are separated by symbol of division and given according to MatInspector, Release 7.4 online tool at www.genomatix.de/: BARB/BARBIE.01 — barbiturate-inducible element; P53F/P53.07 — tumour suppressor p53; DMRT/DMRT3.01 — double sex and mab-3 related TF 3. Splicing enhancers are indicated by solid up-directed horizontal braces; splicing silencers are indicated by interrupted down-directed horizontal braces; splicing enhancer and silencers motifs are abbreviated according to Human Splicing Finder Version 2.4 at http://www.umd.be/HSF. Other abbreviations: ESR — exonic splicing regulatory sequence. Asterix (*) indicates situation when several splicing signals of the same type could occupy the sequence and overlap each other.