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LOC111556158 HNF4 motif-containing MPRA enhancer 127 [ Homo sapiens (human) ]

Gene ID: 111556158, updated on 17-Sep-2024

Summary

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Gene symbol
LOC111556158
Gene description
HNF4 motif-containing MPRA enhancer 127
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 motif for the HNF4 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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See LOC111556158 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (100583073..100583217)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (100431436..100431580)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (101048629..101048773)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cell division cycle 14A Neighboring gene uncharacterized LOC105379827 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:100927704-100928325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1383 Neighboring gene Sharpr-MPRA regulatory region 2368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:101004119-101004968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:101004969-101005817 Neighboring gene G protein-coupled receptor 88 Neighboring gene ribosomal protein L7a pseudogene 17 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:101088137-101088435 Neighboring gene long intergenic non-protein coding RNA 1349

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 Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • HNF4 activator MPRA enhancer 127
  • massively parallel reporter assay enhancer 127

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_055980.1 

    Range
    101..245
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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
    100583073..100583217
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    100431436..100431580
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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