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LOC111519897 NFE2L2 motif-containing MPRA enhancer 85 [ Homo sapiens (human) ]

Gene ID: 111519897, updated on 17-Sep-2024

Summary

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Gene symbol
LOC111519897
Gene description
NFE2L2 motif-containing MPRA enhancer 85
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:
4p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (4660090..4660234)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (4629719..4629863)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (4661817..4661961)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene syntaxin 18 Neighboring gene uncharacterized LOC107986254 Neighboring gene Sharpr-MPRA regulatory region 11878 Neighboring gene uncharacterized LOC124900165 Neighboring gene STX18 antisense RNA 1 (head to head) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15215 Neighboring gene long intergenic non-protein coding RNA 3091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4584074-4584574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4611951-4612940 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:4641873-4642792 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:4643711-4644628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4652800-4653697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4666938-4667438 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:4668341-4668936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15216 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:4672506-4673099 Neighboring gene small nucleolar RNA, C/D box 162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21231 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:4760651-4761066 Neighboring gene uncharacterized LOC101928279 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:4764243-4765442 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:4782258-4783457

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. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

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 85
  • massively parallel reporter assay enhancer 85

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_055949.1 

    Range
    101..245
    Download
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    4660090..4660234
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    4629719..4629863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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