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LOC126863049 BRD4-independent group 4 enhancer GRCh37_chr20:49874837-49876036 [ Homo sapiens (human) ]

Gene ID: 126863049, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126863049
Gene description
BRD4-independent group 4 enhancer GRCh37_chr20:49874837-49876036
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 LOC126863049 in Genome Data Viewer
Location:
chromosome: 20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (51258300..51259499)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (53028893..53030092)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372661 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:49735490-49736325 Neighboring gene uncharacterized LOC105372662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49737507-49738012 Neighboring gene ribosomal protein SA pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13040 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49838165-49838839 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49838840-49839513 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49853584-49854170 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49922777-49923737 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:49927461-49928450 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:49928451-49929439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49938175-49938676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49944615-49945493 Neighboring gene uncharacterized LOC124904930 Neighboring gene Sharpr-MPRA regulatory region 14118 Neighboring gene uncharacterized LOC105372663 Neighboring gene nuclear factor of activated T cells 2

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_087546.1 

    Range
    101..1300
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    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    51258300..51259499
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    53028893..53030092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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