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LOC111501769 NFE2L2 motif-containing MPRA enhancer 286 [ Homo sapiens (human) ]

Gene ID: 111501769, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111501769
Gene description
NFE2L2 motif-containing MPRA enhancer 286
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 high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. This enhancer contains a conserved motif for the NFE2L2 activator. Mutation of this motif results in reduced enhancer activity. [provided by RefSeq, Nov 2017]
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Genomic context

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Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (61141587..61141731)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (61020383..61020527)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (61607259..61607403)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:61368907-61369440 Neighboring gene NFIA antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:61520031-61520904 Neighboring gene Sharpr-MPRA regulatory region 5981 Neighboring gene Sharpr-MPRA regulatory region 2485 Neighboring gene nuclear factor I A Neighboring gene Sharpr-MPRA regulatory region 4387 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:61713056-61713264 Neighboring gene NANOG hESC enhancer GRCh37_chr1:61715889-61716390 Neighboring gene NFIA antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:61766471-61767069 Neighboring gene MPRA-validated peak260 silencer Neighboring gene Sharpr-MPRA regulatory region 1245 Neighboring gene MPRA-validated peak261 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr1:61902263-61902764 Neighboring gene VISTA enhancer hs1309 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:61942976-61943490 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:61946773-61947972 Neighboring gene uncharacterized LOC105378766

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

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 286
  • massively parallel reporter assay enhancer 286

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_055936.1 

    Range
    101..245
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    61141587..61141731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    61020383..61020527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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