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LOC111365160 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100743381-100744088 [ Homo sapiens (human) ]

Gene ID: 111365160, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111365160
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100743381-100744088
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 ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. Two subregions were also validated as functional enhancers by high-throughput massively parallel reporter assays (MPRAs) in both HepG2 liver carcinoma cells and K562 erythroleukemia cells. Each of those subregions contains two motifs for the NFE2L2 activator, and mutation of either motif results in reduced enhancer activity. Another subregion was also validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with MPRAs) in both HepG2 cells (group: HepG2 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin) and K562 cells (group: K562 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (101100100..101100807)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (102422905..102423612)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100743449..100743743)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene mucin 17, cell surface associated Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100709117-100709986 Neighboring gene RN7SK pseudogene 54 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100727119-100727619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100730454-100731094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100731095-100731734 Neighboring gene tripartite motif containing 56 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100742673-100743380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100751090-100752040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100752041-100752991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100755193-100755694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100760705-100761406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100765023-100765642 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100766263-100766880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100769261-100770040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100770821-100771600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100771601-100772380 Neighboring gene serpin family E member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100778603-100779104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100781393-100782168 Neighboring gene negCOR silencer S6 Neighboring gene Sharpr-MPRA regulatory region 5920 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100798163-100798663 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:100799642-100800841 Neighboring gene microRNA 4653 Neighboring gene adaptor related protein complex 1 subunit sigma 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. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  4. 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
  5. 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

  • NFE2L2 activator MPRA enhancer 153
  • NFE2L2 activator MPRA enhancer 54
  • NFE2L2 motif-containing MPRA enhancers 54 and 153
  • Sharpr-MPRA regulatory region 10406
  • massively parallel reporter assay enhancers 54 and 153

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_055748.4 

    Range
    101..808
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    101100100..101100807
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    102422905..102423612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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