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LOC126807279 BRD4-independent group 4 enhancer GRCh37_chr4:190802184-190803383 [ Homo sapiens (human) ]

Gene ID: 126807279, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126807279
Gene description
BRD4-independent group 4 enhancer GRCh37_chr4:190802184-190803383
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. The major subregion had activity 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. Two subregions marked by the H3K27ac histone modification were also shown to be active enhancers by ChIP-STARR-seq in primed human embryonic stem cells. [provided by RefSeq, Oct 2022]
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Genomic context

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Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (189880899..189882228)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (193243224..193247179)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene FRG1 divergent transcript Neighboring gene uncharacterized LOC124900882 Neighboring gene uncharacterized LOC105377619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:190749322-190749822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:190749823-190750323 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:190767193-190767906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:190767907-190768620 Neighboring gene long intergenic non-protein coding RNA 1596 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:190862333-190862832 Neighboring gene FSHD region gene 1 Neighboring gene MLLT10 pseudogene 2

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

  • H3K27ac hESC enhancer GRCh37_chr4:190802054-190802562
  • H3K27ac hESC enhancer GRCh37_chr4:190802563-190803071

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_083600.2 

    Range
    101..1430
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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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    189880899..189882228
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187543.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    217925..219254
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_187679.1 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    529628..530957
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    193243224..193247179
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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