LOC108491824 EXT1 intron enhancer-blocking element 8-1-1 [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108491824
Gene description: EXT1 intron enhancer-blocking element 8-1-1
Gene type: biological region
Feature type(s): regulatory: enhancer_blocking_element
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 an intron of the EXT1 (exostosin glycosyltransferase 1) gene on chromosome 8. It was identified as a putative enhancer-blocking chromatin insulator based on CTCF association and DNase I hypersensitivity in multiple cell types by ChIP-seq and genome-wide chromatin accessibility assays. It was validated as a functional enhancer-blocking element based on its ability to block activity of an enhancer when positioned between the enhancer and a promoter in a lentiviral reporter assay. [provided by RefSeq, Aug 2016]
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Genomic context

Location:: 8q24.11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (117861937..117863051)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (118990325..118991439)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (118874176..118875290)

Chromosome 8 - NC_000008.11 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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General gene information

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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.