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LOC126861469 BRD4-independent group 4 enhancer GRCh37_chr12:16089367-16090566 [ Homo sapiens (human) ]

Gene ID: 126861469, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861469
Gene description
BRD4-independent group 4 enhancer GRCh37_chr12:16089367-16090566
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: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (15936433..15937632)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (15813693..15814882)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724146 Neighboring gene Sharpr-MPRA regulatory region 5867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6072 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:16063956-16064700 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:16064701-16065444 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:16069411-16069624 Neighboring gene serine/threonine kinase receptor associated protein Neighboring gene MPRA-validated peak1581 silencer Neighboring gene deoxyribose-phosphate aldolase Neighboring gene egl-9 family hypoxia-inducible factor 3 pseudogene 1 Neighboring gene VISTA enhancer hs798 Neighboring gene Sharpr-MPRA regulatory region 3277 Neighboring gene uncharacterized LOC101928362 Neighboring gene solute carrier family 15 member 5

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_085968.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    15936433..15937632
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    15813693..15814882
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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