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LOC111556163 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:14270712-14271911 [ Homo sapiens (human) ]

Gene ID: 111556163, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111556163
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:14270712-14271911
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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 was predicted to be a cell type-specific enhancer 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 1 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on P300/CBP. A subregion was also validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. The subregion contains a motif for the NFE2L2 activator, and mutation of the motif results in reduced enhancer activity. [provided by RefSeq, Aug 2022]
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Genomic context

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Location:
6p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (14270481..14271680)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (14143004..14144204)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (14271202..14271346)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 133 pseudogene Neighboring gene MPRA-validated peak5669 silencer Neighboring gene uncharacterized LOC105374940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24049 Neighboring gene MPRA-validated peak5670 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:14235700-14236200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:14236201-14236701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24050 Neighboring gene NANOG hESC enhancer GRCh37_chr6:14265410-14265941 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:14273182-14274095 Neighboring gene long intergenic non-protein coding RNA 1108 Neighboring gene uncharacterized LOC124901266

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. Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay. Kheradpour P, et al. Genome Res, 2013 May. PMID 23512712, Free PMC Article
  2. Mapping and analysis of chromatin state dynamics in nine human cell types. Ernst J, et al. Nature, 2011 May 5. PMID 21441907, Free PMC Article
  3. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, 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

  • NFE2L2 activator MPRA enhancer 158
  • NFE2L2 motif-containing MPRA enhancer 158
  • massively parallel reporter assay enhancer 158

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_056065.2 

    Range
    101..1300
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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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    14270481..14271680
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    14143004..14144204
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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