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Table 1 Comparison of sdSNP properties between ASEs and CSEs

From: A comprehensive survey of human polymorphisms at conserved splice dinucleotides and its evolutionary relationship with alternative splicing

Properties of sdSNP on ASEs on CSEs
Heterozygosity1) 0.24 (S.E. 0.03) 0.19 (S.E. 0.03)
SNP density2) 0.030% 0.037%
#HITs accordance with GT-AG rule3) 35/47 (74%) 100/175 (57%)
Splice score with matched allele4) 8.534 (S.E. 0.454) 7.835 (S.E. 0.600)
Splice score Δ two alleles5) 8.225 (S.E. 0.087) 8.235 (S.E. 0.128)
  1. 1) Average heterozygosity of sdSNPs.
  2. 2) Density of SNPs in splice dinucleotides. Note that the SNP density in intron regions is 0.139%.
  3. 3) Number of transcripts whose splice sites satisfy the GT-AG rule with the predicted allele/number of transcripts performed allele prediction assuming LD with the nearest cSNP. See Process 5 in Figure 2.
  4. 4) Average score of splice sites with the predicted alleles meeting the GT-AG rule. Splice scores were calculated using the MaxEnt program.
  5. 5) Average differences in score between the two splice sites from the two alleles of each sdSNP.