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LOC126806988 BRD4-independent group 4 enhancer GRCh37_chr4:15151436-15152635 [ Homo sapiens (human) ]

Gene ID: 126806988, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126806988
Gene description
BRD4-independent group 4 enhancer GRCh37_chr4:15151436-15152635
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 (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 both are marked by the H3K27ac and H3K4me1 histone modifications. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate 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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See LOC126806988 in Genome Data Viewer
Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (15149020..15151011)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (15130791..15132782)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (15150644..15152635)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene C1QTNF7 antisense RNA 1 Neighboring gene RN7SK pseudogene 170 Neighboring gene uncharacterized LOC124900673 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:15159790-15160509 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:15160510-15161228 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:15183990-15185189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21337 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:15257102-15257650 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:15280553-15281190 Neighboring gene C1q and TNF related 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21339 Neighboring gene uncharacterized LOC107986185

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 within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. 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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 21336
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:15150644-15151600
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:15151601-15152557

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_083309.2 

    Range
    101..2092
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    15149020..15151011
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    15130791..15132782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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