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LOC112272622 BRD4-independent group 4 enhancer GRCh37_chr15:85956328-85957527 [ Homo sapiens (human) ]

Gene ID: 112272622, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112272622
Gene description
BRD4-independent group 4 enhancer GRCh37_chr15:85956328-85957527
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 sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. The major subregion 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, 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 naive human embryonic stem cells. Another subregion was also validated as a functional enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Nov 2022]
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Genomic context

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Location:
15q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (85412642..85414296)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (83164693..83166347)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85956749..85957043)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10011 Neighboring gene RNA, U7 small nuclear 79 pseudogene Neighboring gene A-kinase anchoring protein 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85958383-85958882 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85977313-85978117 Neighboring gene fatty acid binding protein 5 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10014 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85996962-85997509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85997510-85998056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10017 Neighboring gene Sharpr-MPRA regulatory region 6632 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42228 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42230 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6784 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42240 Neighboring gene NANOG hESC enhancer GRCh37_chr15:86171542-86172083 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42264 Neighboring gene RNA, U6 small nuclear 1280, pseudogene

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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

  • H3K27ac hESC enhancer GRCh37_chr15:85955873-85956374
  • H3K27ac hESC enhancer GRCh37_chr15:85956375-85956874
  • Sharpr-MPRA regulatory region 6429

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_056756.3 

    Range
    101..1755
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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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    85412642..85414296
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    83164693..83166347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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