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LOC126860755 BRD4-independent group 4 enhancer GRCh37_chr9:125026651-125027850 [ Homo sapiens (human) ]

Gene ID: 126860755, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126860755
Gene description
BRD4-independent group 4 enhancer GRCh37_chr9:125026651-125027850
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 primed human embryonic stem cells, where both are associated with the NANOG transcription factor and are marked by the H3K27ac and H3K4me1 histone modifications, and one is additionally associated with OCT4. 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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Location:
chromosome: 9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (122264022..122265964)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (134461541..134463483)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3979 Neighboring gene MORN repeat containing 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:124962138-124962350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124988963-124989468 Neighboring gene LIM homeobox 6 Neighboring gene MPRA-validated peak7328 silencer Neighboring gene RNA binding motif protein 18 Neighboring gene mitochondrial ribosome recycling factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125098749-125099354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125099355-125099958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125105266-125105789 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:125112881-125113087 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:125126021-125127220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125137981-125138948 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:125145815-125147014 Neighboring gene prostaglandin-endoperoxide synthase 1 Neighboring gene uncharacterized LOC124902264 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:125164273-125165472

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 active region 28927
  • NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:125027273-125028243
  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:125026301-125027272

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_085255.2 

    Range
    101..2043
    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    122264022..122265964
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    134461541..134463483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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