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LOC111365143 FOXA motif-containing MPRA enhancer 10/11 [ Homo sapiens (human) ]

Gene ID: 111365143, updated on 10-Dec-2024

Summary

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Gene symbol
LOC111365143
Gene description
FOXA motif-containing MPRA enhancer 10/11
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 both low-throughput reporter assays and high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. This enhancer contains a moderately conserved motif for the FOXA activator. Mutation of this motif results in loss of enhancer activity. [provided by RefSeq, Nov 2017]
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Genomic context

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See LOC111365143 in Genome Data Viewer
Location:
1q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (182291726..182292225)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (181648420..181648919)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (182260861..182261360)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371642 Neighboring gene Sharpr-MPRA regulatory region 10342 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:182112509-182112685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:182112694-182113362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:182113363-182114030 Neighboring gene YPEL5 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 1344 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:182199023-182199595 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:182218347-182218848 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:182231616-182231824 Neighboring gene Sharpr-MPRA regulatory region 4291 Neighboring gene NANOG hESC enhancer GRCh37_chr1:182270844-182271361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1617 Neighboring gene RNA, U6 small nuclear 152, pseudogene Neighboring gene ribosomal protein L18 pseudogene 2

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

  • FOXA activator MPRA enhancer 10
  • FOXA activator MPRA enhancer 11
  • massively parallel reporter assay enhancer 10/11

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_055679.1 

    Range
    101..600
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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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    182291726..182292225
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    181648420..181648919
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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