Table 4. VISTA enhancer loci deleted in our patients.
Enhancer ID | Enhancer position | Sample | Chromosome region* | Enhancer Bracketing Genes | Enhancer Expression | Expression Pattern |
hs607 | chr12∶16,610,045–16,611,936 | 27 | chr12∶16606713–16665783 | MGST1-LMO3 | Positive | hindbrain (rhombencephalon), neural tube |
hs676 | chr6∶97,544,611–97,545,759 | 25 | chr6∶97375836–97550891 | KIAA1900 (intragenic) | Positive | branchial arch, ear, forebrain, hindbrain |
hs775 | chr18∶77,010,009–77,010,795 | 01 | chr18∶77008844–77024003 | CDR2-HS3ST2 | Positive | forebrain |
deleted regions as detected by sequencing.