Table 3.
Structurally, functionally, and evolutionary distinct families of human-specific regulatory sequences (HSRS) manifest common enrichment patterns of associations with 8405 hsSNC-linked genes
| Classification category/reference database | Number of records (hg19) | Associated genes | Common with all 8405 hsSNC-linked genes | Percent, hsSNCs genes | Percent, HSRS genes |
|---|---|---|---|---|---|
| Fixed human-specific insertions. | 11,878 | 7979 | 5290 | 62.94 | 66.30 |
| Human-specific TE loci expressed in human dorsolateral prefrontal cortex | 4637 | 4051 | 2719 | 32.35 | 67.12 |
| Set of duplicated regions in GRCh38 space | 7599 | 6618 | 3654 | 43.47 | 55.21 |
| Fixed human-specific deletions | 5883 | 5489 | 3835 | 45.63 | 69.87 |
| Human-specific STR expansions | 4875 | 4844 | 3354 | 39.90 | 69.24 |
| hsTFBS | 3803 | 1087 | 750 | 8.92 | 69.00 |
| ace-DHS | 3538 | 3445 | 2553 | 30.37 | 74.11 |
| FHSRR | 4249 | 2810 | 1899 | 22.59 | 67.58 |
| Human-specific STR contractions | 1279 | 973 | 554 | 6.59 | 56.94 |
| hESC_FHSRR_DHS | 1932 | 1458 | 1096 | 13.04 | 75.17 |
| DHS_FHSRR (non-hESC) | 2118 | 552 | 307 | 3.65 | 55.62 |
| Human accelerated regions (HARs) | 2745 | 2281 | 1890 | 22.49 | 82.86 |
| haDHS | 524 | 747 | 659 | 7.84 | 88.22 |
| Human-biased CNCC enhances | 1000 | 1439 | 1110 | 13.21 | 77.14 |
| Chimp-biased CNCC enhances | 1000 | 1445 | 1106 | 13.16 | 76.54 |
| H3K4me3 peaks with human-specific enrichment in prefrontal neurons | 410 | 578 | 308 | 3.66 | 53.29 |
| Human-specific hESC functional enhancers | 1619 | 1214 | 816 | 9.71 | 67.22 |
| All HSRS | 59,089 | 13,824 | 7406 | 88.11 | 53.57 |