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LOC126807524 BRD4-independent group 4 enhancer GRCh37_chr5:137799954-137801153 [ Homo sapiens (human) ]

Gene ID: 126807524, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126807524
Gene description
BRD4-independent group 4 enhancer GRCh37_chr5:137799954-137801153
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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 (MPRA). 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 were also shown to be active enhancers by ChIP-STARR-seq in human embryonic stem cells, where are marked by the H3K27ac histone modification and one is additionally marked by H3K4me1. This locus also includes four accessible chromatin subregions that were validated as silencers based on their ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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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 (138464083..138466217)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (138990311..138992445)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23201 Neighboring gene lysine demethylase 3B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137706464-137706964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137706965-137707465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137775379-137775912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23204 Neighboring gene receptor accessory protein 2 Neighboring gene CRISPRi-validated cis-regulatory element chr5.3152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23205 Neighboring gene Sharpr-MPRA regulatory region 15571 Neighboring gene early growth response 1 Neighboring gene ribosomal protein L7 pseudogene 19 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137826688-137827381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137827382-137828074 Neighboring gene uncharacterized LOC124901078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137828769-137829460

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, Free PMC Article
  3. 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

  • ATAC-STARR-seq lymphoblastoid silent region 16396
  • ATAC-STARR-seq lymphoblastoid silent region 16397
  • ATAC-STARR-seq lymphoblastoid silent region 16398
  • ATAC-STARR-seq lymphoblastoid silent region 16399
  • H3K27ac hESC enhancer GRCh37_chr5:137800226-137801066
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137801067-137801906

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_083838.3 

    Range
    101..2235
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    138464083..138466217
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    138990311..138992445
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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