Figure 1. ssSNP distribution in splice site. Splice sites are classified into 5' and 3' splice sites by location in the exon junction site.
Figure 2. The number of ssSNPs in a gene structure. The "CDS" in the figure means the number of ssSNPs to be discovered between start and end positions of CDS region. Outside ends of UTR regions were excluded because there is no exon junction site.
Figure 3. Chromosomal distribution of ssSNPs.
Figure 4. Strength alternation of splice site including ssSNP. "Splice.site.strength" means the strength values of exon junction sites in reference genome (reference SNP alleles). The values of altered strength by ssSNPs are presented as "Altered.splice.site.strength" (alternate SNP alleles). Alternate SNP alleles have revealed much lower strength scores than reference SNP alleles.
Figure 5. Length distribution of adjacent exons and introns to be flanked from ssSNP. The value of Y-axis means logarithms of the lengths. For elimination of alignement errors, short introns under 100 base pair were filtered out.
Figure 6. Distribution of alternate SNP alleles in splice sites. The scores in this figure are the number of alternate SNP alleles. A) Variation of the 5' splice site (GT). B) Variation of the 3' splice site (AG).
Figure 7. DNA substitution mutations by ssSNP. This figure shows transition and transversion ratios by SNPs in donor and accept sites.
Figure 8. Two types of ssSNP effects for exon variation. We checked chromosomal positions of splice sites at loci of both arrows marks. A) Exon extention by ssSNP in the 5' splice site. B) Exon extension by ssSNP in the 3' splice site. C) Exon skipping by ssSNP in the 5' splice site. D) Exon skipping by ssSNP in the 3' splice site. E) The number of exon extension and skipping events for SNP, transcript, and SNP-Transcript pais.