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LOC111365168 NFE2L2 motif-containing MPRA enhancer 148 [ Homo sapiens (human) ]

Gene ID: 111365168, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111365168
Gene description
NFE2L2 motif-containing MPRA enhancer 148
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 a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 22:ReprW, weaker Polycomb repression) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). A sub-region also functioned as an enhancer by high-throughput massively parallel reporter assays (MPRAs) in both HepG2 and K562 cells. The sub-region contains a conserved motif for the NFE2L2 activator, and mutation of the motif results in reduced enhancer activity. [provided by RefSeq, Dec 2018]
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Genomic context

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Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (36527003..36527297)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (36667358..36667652)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (36566609..36566903)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18100 Neighboring gene NANOG hESC enhancer GRCh37_chr7:36197697-36198217 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36254183-36255020 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36255021-36255856 Neighboring gene endonuclease/exonuclease/phosphatase family domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:36285803-36286305 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36297422-36298230 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36298231-36299037 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36320693-36321354 Neighboring gene Sharpr-MPRA regulatory region 9097 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36351141-36351658 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:36399716-36400433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18101 Neighboring gene microtubule associated tyrosine carboxypeptidase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:36429116-36429706 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:36429707-36430297 Neighboring gene anillin, actin binding protein Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:36544967-36546166 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98398 Neighboring gene acyloxyacyl hydrolase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36655105-36655606 Neighboring gene AOAH intronic transcript 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:36693505-36694049 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:36701053-36701595 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:36802118-36803317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25844 Neighboring gene nucleophosmin 1 pseudogene 18

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. 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

  • NFE2L2 activator MPRA enhancer 148
  • Sharpr-MPRA regulatory region 12778
  • massively parallel reporter assay enhancer 148

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_055756.2 

    Range
    101..395
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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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    36527003..36527297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    36667358..36667652
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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