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LOC111562371 NFE2L2 motif-containing MPRA enhancer 172 [ Homo sapiens (human) ]

Gene ID: 111562371, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111562371
Gene description
NFE2L2 motif-containing MPRA enhancer 172
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:
20q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (41670115..41670259)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (43401899..43402043)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (40298754..40298898)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene chromodomain helicase DNA binding protein 6 Neighboring gene uncharacterized LOC124904904 Neighboring gene ribosomal protein L12 pseudogene 11 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:40195885-40196079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12922 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:40278687-40279204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17896 Neighboring gene uncharacterized LOC124904905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17899 Neighboring gene RNA, U6 small nuclear 1018, pseudogene

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 172
  • massively parallel reporter assay enhancer 172

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_056068.1 

    Range
    101..245
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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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    41670115..41670259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    43401899..43402043
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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