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LOC126653402 BRD4-independent group 4 enhancer GRCh37_chr21:46785000-46786199 [ Homo sapiens (human) ]

Gene ID: 126653402, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126653402
Gene description
BRD4-independent group 4 enhancer GRCh37_chr21:46785000-46786199
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 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, Aug 2022]Summary: This genomic region was validated as an active enhancer by ChIP-STARR-seq in naive human embryonic stem cells, where it associates with the NANOG transcription factor and is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Dec 2022]
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Genomic context

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Location:
chromosome: 21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (45365085..45366284)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (43731041..43732240)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46766854-46767770 Neighboring gene uncharacterized LOC105372839 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46773249-46774123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46777975-46778628 Neighboring gene CRISPRi-validated cis-regulatory element chr21.1536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46782348-46783073 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:46783494-46784693 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46786885-46787636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46787637-46788388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46790350-46790860 Neighboring gene uncharacterized LOC124905041 Neighboring gene MT-CO1 pseudogene 3

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-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46785381-46786132

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_081895.1 

    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    45365085..45366284
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    43731041..43732240
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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Molecular Biology Databases