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LOC126807316 BRD4-independent group 4 enhancer GRCh37_chr5:11022334-11023533 [ Homo sapiens (human) ]

Gene ID: 126807316, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126807316
Gene description
BRD4-independent group 4 enhancer GRCh37_chr5:11022334-11023533
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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Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (11022222..11023421)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (10959844..10961043)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized CTD-2154B17.1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:10904846-10905500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22383 Neighboring gene uncharacterized LOC105374654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10987709-10988210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22384 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:11065447-11066374 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:11069015-11069605 Neighboring gene RNA, U6 small nuclear 429, pseudogene Neighboring gene catenin delta 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:11141031-11141205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22385 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80752 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:11385794-11386750 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:11466555-11466731 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:11528941-11529462 Neighboring gene NANOG hESC enhancer GRCh37_chr5:11700418-11700919 Neighboring gene NANOG hESC enhancer GRCh37_chr5:11797120-11797650 Neighboring gene Sharpr-MPRA regulatory region 1238 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:12237819-12238658 Neighboring gene RNA, U6 small nuclear 679, pseudogene

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_083630.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    11022222..11023421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    10959844..10961043
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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