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LOC126807369 BRD4-independent group 4 enhancer GRCh37_chr5:38830048-38831247 [ Homo sapiens (human) ]

Gene ID: 126807369, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126807369
Gene description
BRD4-independent group 4 enhancer GRCh37_chr5:38830048-38831247
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 4 enhancer that depends on the BRD2, P300/CBP, MED14 and CDK7 cofactors, but it has limited or no dependence on the BRD4 bromodomain protein. [provided by RefSeq, Sep 2022]
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Genomic context

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See LOC126807369 in Genome Data Viewer
Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (38829946..38831145)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (39079167..39080367)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OSMR divergent transcript Neighboring gene transmembrane protein 126A pseudogene Neighboring gene Sharpr-MPRA regulatory region 7781 Neighboring gene uncharacterized LOC107986414 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:38810677-38811177 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:38879339-38879838 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:38878837-38879338 Neighboring gene oncostatin M receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:38907734-38908234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:38908235-38908735 Neighboring gene NANOG hESC enhancer GRCh37_chr5:38916726-38917255 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_84767 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_84768 Neighboring gene RPTOR independent companion of MTOR complex 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:39011967-39012173 Neighboring gene androgen induced 1 pseudogene 1

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_083683.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    38829946..38831145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    39079167..39080367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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