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. 2007 Sep 4;8(9):R180. doi: 10.1186/gb-2007-8-9-r180

Table 3.

Comparison of indel and SNP density by ENCODE experimental features

Indels Validated SNPs

bp/100 kb 99% CI bp bp/100 kb
Manual 43.4 34.4 to 54.7 14,390 95.9
Random 43.4 37.5 to 50.2 16,343 109.0
Overall 43.4 38.3 to 49.1 30,733 102.4
RNA transcription
 CDS 0.7 0.1 to 8.6 421 62.4
 TSS 3.3 42 68.7
 RACEfrags 6.6 1.3 to 33.9 278 65.4
 TARs/transfrags 12.3 6.8 to 22.3 591 93.1
 Pseudo-exons 19.1 5.8 to 63.3 132 96.9
 3' UTR 23.6 13.5 to 41.3 370 84.8
 3' UTR 27.4 3.8 to 198.7 97 83.2
 TUF 36.9 20.2 to 67.6 423 97.6
Open chromatin
 FAIRE-sites 23.8 15.5 to 36.7 1,232 89.8
 DHS (NHGRI) 19.7 8.3 to 46.9 297 95.9
 DHS (Regulome) 27.0 13.4 to 54.4 450 90.1
DNA-protein interaction/transcript regulation
 HisPolTAF 32.4 22.5 to 46.5 850 79.0
 Seq_specific (all motifs) 35.8 23.1 to 55.3 1,098 93.5
 SeqSp (sequence specific factors) 42.5 20.1 to 89.5 421 79.4
Ancestral repeats 26.5 21.7 to 32.5 5,749 95.9
Evolutionary constraint
 MCS strict 4.1 1.6 to 10.4 229 30.6
 MCS moderate 11.2 6.8 to 18.5 667 44.0
 MCS loose 26.4 20.9 to 33.4 2,052 56.4
Cell cycle
 EarlyRepSeg 43.5 33.3 to 56.9 6,165 89.8
 MidRepSeg 43.2 35.3 to 53.0 7,418 95.7
 LateRepSeg 41.9 32.9 to 53.3 8,896 111.3

bp, base pairs; CDS, coding sequence; CI, confidence interval; DHS, DNAse hypersensitive sites; ENCODE, Encyclopedia of DNA Elements; FAIRE, formaldehyde assisted isolation of regulatory elements; kb, kilobases; MCS, multi-species conserved sequence; NHGRI, National Human Genome Research Institute; transfrag, transcribed fragment; RACEfrag, rapid amplification of cDNA ends fragment; SNP, single nucleotide polymorphism; TAR, transcriptionally active region; TSS, transcription start site; TUF, transcripts of unknown function; UTR, untranslated region.