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LOC111589211 NFE2L2 motif-containing MPRA enhancer 239 [ Homo sapiens (human) ]

Gene ID: 111589211, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111589211
Gene description
NFE2L2 motif-containing MPRA enhancer 239
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 K562 erythroleukemia cells. This enhancer contains a motif for the NFE2L2 activator. Mutation of this motif results in reduced enhancer activity. [provided by RefSeq, Dec 2017]
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Genomic context

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Location:
8q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (130672837..130672981)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (131800178..131800322)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (131685083..131685227)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:131370073-131371035 Neighboring gene uncharacterized LOC124902026 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:131380037-131380536 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:131388200-131388776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:131431296-131431799 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19554 Neighboring gene Sharpr-MPRA regulatory region 3250 Neighboring gene uncharacterized LOC105375758 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:131540148-131541347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27988 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101181 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:131739458-131740657 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:131759497-131759683 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19555 Neighboring gene uncharacterized LOC105375762 Neighboring gene adenylate cyclase 8 Neighboring gene uncharacterized LOC105375761

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 239
  • massively parallel reporter assay enhancer 239

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_056082.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    130672837..130672981
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    131800178..131800322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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