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LOC126861571 BRD4-independent group 4 enhancer GRCh37_chr12:73266315-73267514 [ Homo sapiens (human) ]

Gene ID: 126861571, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861571
Gene description
BRD4-independent group 4 enhancer GRCh37_chr12:73266315-73267514
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 includes enhancers that were validated by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay. In HCT116 colorectal carcinoma cells, a subregion 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. Another subregion was also validated as an enhancer by ChIP-STARR-seq in naive human embryonic stem cells, where it associates with the NANOG transcription factor. [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (72872447..72873734)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (72850580..72851867)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene thyrotropin releasing hormone degrading enzyme Neighboring gene NANOG hESC enhancer GRCh37_chr12:72837794-72838295 Neighboring gene MPRA-validated peak1828 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:72913564-72914146 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:72914147-72914728 Neighboring gene H3 histone pseudogene 35 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:72984702-72984887 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:73033440-73033988 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:73102101-73102706 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:73209905-73210447 Neighboring gene uncharacterized LOC105369838 Neighboring gene MPRA-validated peak1829 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:73394447-73395222 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:73584169-73585368 Neighboring gene long intergenic non-protein coding RNA 2444

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

  • NANOG hESC enhancer GRCh37_chr12:73266227-73266728

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_086070.2 

    Range
    101..1388
    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    72872447..72873734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    72850580..72851867
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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