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LOC111413045 NFE2L2 motif-containing MPRA enhancer 194 [ Homo sapiens (human) ]

Gene ID: 111413045, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111413045
Gene description
NFE2L2 motif-containing MPRA enhancer 194
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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See LOC111413045 in Genome Data Viewer
Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (104219446..104219590)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (104181139..104181283)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (104613224..104613368)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369947 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23741 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23744 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23747 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23754 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23756 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23757 Neighboring gene long intergenic non-protein coding RNA 2385 Neighboring gene Sharpr-MPRA regulatory region 15351 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104609333-104609949 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104609950-104610565 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23775 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23777 Neighboring gene thioredoxin reductase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:104628245-104628471 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23786 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23788 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23792 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23801 Neighboring gene uncharacterized LOC124903002 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23817 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:104665873-104667072 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23822 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23828 Neighboring gene ribosomal protein L18a pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 5029 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:104680011-104681210 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:104681597-104682144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:104682145-104682690 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23836 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104697445-104698317 Neighboring gene EP300 interacting inhibitor of differentiation 3

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 194
  • massively parallel reporter assay enhancer 194

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_055875.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    104219446..104219590
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    104181139..104181283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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