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LOC111500319 NFE2L2 motif-containing MPRA enhancer 276 [ Homo sapiens (human) ]

Gene ID: 111500319, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111500319
Gene description
NFE2L2 motif-containing MPRA enhancer 276
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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Location:
5q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (173782196..173782340)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (174322571..174322715)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (173209199..173209343)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984118 Neighboring gene long intergenic non-protein coding RNA 1484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:173147588-173148088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:173148089-173148589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23663 Neighboring gene uncharacterized LOC124901138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:173198292-173199282 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:173204773-173205972 Neighboring gene uncharacterized LOC107986482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23666 Neighboring gene long intergenic non-protein coding RNA 1485 Neighboring gene Sharpr-MPRA regulatory region 2476 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23667 Neighboring gene Sharpr-MPRA regulatory region 12964 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4558 Neighboring gene Sharpr-MPRA regulatory region 12084 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4561 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4562 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:173301919-173302077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23669 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:173317123-173317624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:173317625-173318124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23671 Neighboring gene Sharpr-MPRA regulatory region 4386 Neighboring gene cytoplasmic polyadenylation element binding protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:173368663-173369301

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 276
  • massively parallel reporter assay enhancer 276

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_055929.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    173782196..173782340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    174322571..174322715
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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