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LOC126860296 MED14-independent group 3 enhancer GRCh37_chr8:8219633-8220832 [ Homo sapiens (human) ]

Gene ID: 126860296, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126860296
Gene description
MED14-independent group 3 enhancer GRCh37_chr8:8219633-8220832
Gene type
biological region
Feature type(s)
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 was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells, where it was defined as a group 3 enhancer that depends on the BRD2, BRD4, P300/CBP and CDK7 cofactors, but it has limited or no dependence on the MED14 core Mediator complex subunit. A subregion was also validated as an enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it is marked by the H3K27ac histone modification. [provided by RefSeq, Dec 2022]
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Genomic context

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Location:
chromosome: 8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (8362117..8363316)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (11380268..11381467, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:8093271-8093782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:8094341-8094892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:8094893-8095443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26963 Neighboring gene family with sequence similarity 86, member A pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:8101423-8102622 Neighboring gene ALG1 like 13, pseudogene Neighboring gene Sharpr-MPRA regulatory region 6714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18893 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:8145864-8146364 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:8153089-8154288 Neighboring gene uncharacterized LOC124901879 Neighboring gene PEAK1 related, kinase-activating pseudokinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:8233601-8234540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:8238570-8239092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:8239093-8239613 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18895 Neighboring gene uncharacterized LOC105379222 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:8256091-8256704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:8269459-8270166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:8270167-8270872 Neighboring gene long intergenic non-protein coding RNA 2949

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, Free PMC Article
  2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, Free PMC Article

GeneRIFs: Gene References Into Functions

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

General gene information

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Other Names

  • H3K27ac hESC enhancer GRCh37_chr8:8219977-8220477

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.

Genomic

  1. NG_084796.1 

    Range
    101..1300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    8362117..8363316
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    4984525..4985724 complement
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    11380268..11381467 complement
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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