LOC108281126 G6PD and IKBKG intron CAGE-defined low expression enhancer [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108281126
Gene description: G6PD and IKBKG intron CAGE-defined low expression enhancer
Gene type: biological region
Feature type(s): misc_feature: CAGE_cluster
regulatory: enhancer
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This genomic region is located in 5' introns of both the G6PD (glucose-6-phosphate dehydrogenase) and IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma) opposite strand genes. The major subregion was validated as an enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in HCT116 colorectal carcinoma cells, where it was defined as a group 1 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on P300/CBP. Another subregion was defined as a low expression actively transcribed enhancer based on the presence of balanced bidirectional capped transcripts by cap analysis of gene expression (CAGE), and was validated by reporter assays in HeLa cervical cancer cells. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by ATAC-STARR-seq (assay for transposase-accessible chromatin with STARR-seq) in GM12878 lymphoblastoid cells. [provided by RefSeq, Jun 2023]
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Genomic context

Location:: Xq28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (154541534..154543269)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (152777917..152779652)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (153770951..153771484)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

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General gene information

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Other Names

ATAC-STARR-seq lymphoblastoid active region 30066
G6PD and IKBKG intron low CAGE FANTOM5 enhancer
P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:153769749-153770948

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.