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LOC111501790 NFE2L2 motif-containing MPRA enhancer 30 [ Homo sapiens (human) ]

Gene ID: 111501790, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111501790
Gene description
NFE2L2 motif-containing MPRA enhancer 30
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 both liver carcinoma HepG2 cells and erythroleukemia K562 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:
2q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240387738..240387882)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (240881331..240881475)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241327155..241327299)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241191177-241191688 Neighboring gene Sharpr-MPRA regulatory region 2002 Neighboring gene VISTA enhancer hs1750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241226785-241227284 Neighboring gene uncharacterized LOC124906196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241230324-241231300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241232276-241233251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241264697-241265596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241293407-241294054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241294055-241294702 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:241301246-241301403 Neighboring gene VISTA enhancer hs1937 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241313445-241313999 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:241316604-241317104 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:241317105-241317605 Neighboring gene uncharacterized LOC102723825 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241338263-241338901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241339542-241340180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241351335-241351920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241366327-241366828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241366829-241367328 Neighboring gene Sharpr-MPRA regulatory region 14717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241374143-241374719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241376453-241377029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241377081-241377582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241394718-241395368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241397321-241397972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241397973-241398622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241398623-241399273 Neighboring gene GPC1 antisense RNA 1 Neighboring gene glypican 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241417613-241418122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241418633-241419142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241418123-241418632 Neighboring gene microRNA 149 Neighboring gene ankyrin repeat and MYND domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241439369-241439869 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241443459-241443959 Neighboring gene Sharpr-MPRA regulatory region 11390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241467695-241468196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241494599-241495099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12515 Neighboring gene conserved acetylation island sequence C08 enhancer Neighboring gene dual specificity phosphatase 28

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 30
  • massively parallel reporter assay enhancer 30

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_055946.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    240387738..240387882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    240881331..240881475
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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