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LOC126806491 BRD4-independent group 4 enhancer GRCh37_chr2:211225248-211226447 [ Homo sapiens (human) ]

Gene ID: 126806491, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806491
Gene description
BRD4-independent group 4 enhancer GRCh37_chr2:211225248-211226447
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: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (210360524..210361723)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (210841302..210842501)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907972 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:211111447-211112014 Neighboring gene LANCL1 antisense RNA 1 Neighboring gene myosin light chain 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:211229754-211230953 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:211294046-211295245 Neighboring gene NANOG hESC enhancer GRCh37_chr2:211307490-211308075 Neighboring gene LanC like glutathione S-transferase 1 Neighboring gene NANOG hESC enhancer GRCh37_chr2:211346110-211346611 Neighboring gene carbamoyl-phosphate synthase 1 Neighboring gene NANOG hESC enhancer GRCh37_chr2:211405459-211406038 Neighboring gene CPS1 intron CAGE-defined high expression enhancer 1 Neighboring gene CPS1 intron CAGE-defined high expression enhancer 2 Neighboring gene CPS1 intronic transcript 1

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_082811.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    210360524..210361723
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    210841302..210842501
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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