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LOC112997568 BRD4-independent group 4 enhancer GRCh37_chr5:149696468-149697667 [ Homo sapiens (human) ]

Gene ID: 112997568, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112997568
Gene description
BRD4-independent group 4 enhancer GRCh37_chr5:149696468-149697667
Gene type
biological region
Feature type(s)
regulatory: enhancer
RefSeq status
VALIDATED
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. It 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. This sequence 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. A 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 DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Aug 2022]
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Genomic context

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See LOC112997568 in Genome Data Viewer
Location:
5q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (150316905..150318104)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (150853443..150854642)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (149696809..149697103)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149606977-149607538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149607539-149608100 Neighboring gene calcium/calmodulin dependent protein kinase II alpha Neighboring gene ReSE screen-validated silencer GRCh37_chr5:149637006-149637189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149644251-149644786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149672518-149673099 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149673100-149673680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149681719-149682259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:149682260-149682800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149682801-149683340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:149688475-149689108 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:149689109-149689742 Neighboring gene arylsulfatase family member I Neighboring gene uncharacterized LOC105378225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23400 Neighboring gene uncharacterized LOC105378226 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_82342

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

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

  • Sharpr-MPRA regulatory region 14436

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_061565.2 

    Range
    101..1300
    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
    150316905..150318104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    150853443..150854642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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