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LOC111413017 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:65682731-65683930 [ Homo sapiens (human) ]

Gene ID: 111413017, updated on 17-Sep-2024

Summary

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Gene symbol
LOC111413017
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:65682731-65683930
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. 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 1 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on P300/CBP. Two subregions marked by the H3K27ac and H3K4me1 histone modifications were also shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells. A subregion was also validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. That subregion contains a conserved motif for the NFE2L2 activator, and mutation of the motif results in reduced enhancer activity. [provided by RefSeq, Nov 2022]
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Genomic context

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See LOC111413017 in Genome Data Viewer
Location:
11q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65915260..65916619)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65908338..65909697)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65682731..65684090)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5020 Neighboring gene coiled-coil domain containing 85B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65661089-65661593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5021 Neighboring gene FOS like 1, AP-1 transcription factor subunit Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65666730-65666957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3567 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5022 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr11:65685650-65686569 and GRCh37_chr11:65686570-65687490 Neighboring gene chromosome 11 open reading frame 68 Neighboring gene DR1 associated protein 1

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
  4. 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-H3K4me1 hESC enhancer GRCh37_chr11:65682971-65683530
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65683531-65684090
  • NFE2L2 activator MPRA enhancer 146/147
  • NFE2L2 motif-containing MPRA enhancer 146/147
  • massively parallel reporter assay enhancer 146/147

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_055850.3 

    Range
    101..1460
    Download
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    65915260..65916619
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    65908338..65909697
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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