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LOC111365170 NFE2L2 motif-containing MPRA enhancer 190/191 [ Homo sapiens (human) ]

Gene ID: 111365170, updated on 17-Sep-2024

Summary

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Gene symbol
LOC111365170
Gene description
NFE2L2 motif-containing MPRA enhancer 190/191
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. A subregion 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 conserved motif for the NFE2L2 activator. Mutation of this motif results in reduced enhancer activity. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC111365170 in Genome Data Viewer
Location:
Xq
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154002271..154002417)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152275962..152276108)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153267722..153267868)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene host cell factor C1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:153234675-153234853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30045 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153235869-153236718 Neighboring gene HCFC1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21079 Neighboring gene transmembrane protein 187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30047 Neighboring gene microRNA 3202-2 Neighboring gene microRNA 3202-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30048 Neighboring gene CRISPRi-validated cis-regulatory element chrX.2695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153265676-153266176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153277410-153278394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153278395-153279378 Neighboring gene interleukin 1 receptor associated kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153285318-153286287 Neighboring gene microRNA 718

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
  3. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, 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 Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 30051
  • NFE2L2 activator MPRA enhancer 190/191
  • massively parallel reporter assay enhancer 190/191

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_055758.2 

    Range
    101..247
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    154002271..154002417
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    152275962..152276108
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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