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LOC126860387 MED14-independent group 3 enhancer GRCh37_chr8:53458378-53459577 [ Homo sapiens (human) ]

Gene ID: 126860387, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126860387
Gene description
MED14-independent group 3 enhancer GRCh37_chr8:53458378-53459577
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. This sequence 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. [provided by RefSeq, Sep 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 (52545818..52547017)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (52921857..52923056)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ST18 C2H2C-type zinc finger transcription factor Neighboring gene uncharacterized LOC101929341 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:53125987-53126195 Neighboring gene VISTA enhancer hs698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27344 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27345 Neighboring gene MPRA-validated peak7016 silencer Neighboring gene ribosomal protein L34 pseudogene 17 Neighboring gene ST18-FAM150A intergenic CAGE-defined low expression enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:53476246-53477222 Neighboring gene ALK and LTK ligand 1 Neighboring gene MPRA-validated peak7018 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:53512288-53512788 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:53541841-53542555 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:53566637-53567138 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:53567139-53567638 Neighboring gene RB1 inducible coiled-coil 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27348 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:53650644-53651144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:53651145-53651645 Neighboring gene uncharacterized LOC105375835 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:53676283-53677482

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

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

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_084887.1 

    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
    52545818..52547017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    52921857..52923056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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