HAR | Genome Location (hg19) | Closest gene | Experimental approach | Biological function | Domain of expression | Reported functional difference | Postulated phenotypic association | Reference |
---|---|---|---|---|---|---|---|---|
HAR1 | chr20:61,733,447–61,733,630 | HAR1F; HAR1R | qPCR; in situ hybridization | RNA gene | Cajal-Retzius neurons | RNA secondary structure | Brain development | [18] |
HAR2/HACNS1 | chr2:236773664–236774209 | AGAP1 (CENTG2); GBX2 | Transgenic mice | Enhancer | Limb, branchial arches | Gain of function | Limb development | [59] |
2xHAR.142 | chr14:34048651–34048815 | NPAS3 | Transgenic mice | Enhancer | Forebrain, midbrain, spinal cord | Gain of function | Brain development | [57] |
HAR202 | chr14:34045570–34045772 | NPAS3 | Transgenic zebrafish | Enhancer | Central nervous system | Loss of function | Brain development | [58] |
ANC516 | chr10:36238421–36239039 | FZD8 | Transgenic mice | Enhancer | Forebrain, midbrain, spinal cord | Gain of function | Brain development | [56] |
2xHAR.238 | chr2:121832784–121833140 | GLI2, TFCP2L1 | Transgenic mice | Enhancer | Forebrain, midbrain, hindbrain and spinal cord | Loss of function | Brain development | [37] |
2xHAR.114 | chr20:30425200–30425393 | MYLK2, FOXS1 | Transgenic mice | Enhancer | Limb and spinal cord | Loss of function | Limb development | [37] |
2xHAR.164 | chr2:133346894–133347089 | ANKRD30BL, GPR39, LYPD1, NCKAP5 | Transgenic mice | Enhancer | Forebrain, midbrain, hindbrain, spinal cord | Gain of function | Brain development | [37] |
2xHAR.170 | chr5:153640309–153640363 | GALNT10, SAP30L, HAND1 | Transgenic mice | Enhancer | Isthmus and spinal cord | Loss and gain of function | Brain development | [37] |
HAR25 | chr4:182271922–182272882 | ODZ3 | Transgenic mice | Enhancer | Eye | Loss of function | Eye development | [37] |
ANC705 | chr15:61,979,891–61,980,090 | VPS13C, RORA | Epigenetic marks | Enhancer | Neural crest | Gain of function | Neural crest development | [44] |
HAR89; 2xHAR.305 | chr1:3,089,780–3,089,980 | PRDM16 | Epigenetic marks | Enhancer | Neural crest | Gain of function (chimp) | Neural crest development | [44] |
2xHAR.236 | chr1:53,992,480–53,992,679 | GLIS1 | Epigenetic marks | ENHANCER | Neural crest | Gain of function (chimp) | Neural crest development | [44] |
HACNS825 | chr2:217,728,749–217,728,948 | TNP1; LOC105373876 | Epigenetic marks | ENHANCER | Neural crest | Gain of function (chimp) | Neural crest development | [44] |
2xHAR87 | chr11:115648183–115648526 | CADM1 | Epigenetic marks and 4-C | ENHANCER | Cerebellum | Gain of function compared to macaque | Synapse regulation | [43] |
DAR-12/HACNS219 | chr5:158227696–158229500 | RNF145 | Luciferase | ENHANCER | SK-N-MC cells | Gain of function | Hematological traits | [38] |