Analysis of LOC115947639 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1604-LGZ)

Introduction

Gene description: H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239330367-239331026
Gene type: biological region
This genomic region represents a DNase I hypersensitive site (DHS) that was predicted to be an enhancer by the ENCODE (ENCyclopedia Of DNA Elements) project based on various combinations of H3K27 acetylation and binding of p300, GATA1 and RNA polymerase II in K562 erythroleukemia cells. A subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. Two subregions were also validated as high-confidence cis-regulatory elements for the ASB1 (ankyrin repeat and SOCS box containing 1) gene on chromosome 2 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells.