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LOC111365189 HNF1, HNF4 and FOXA motif-containing MPRA enhancers 45, 51 and 106/107 [ Homo sapiens (human) ]

Gene ID: 111365189, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111365189
Gene description
HNF1, HNF4 and FOXA motif-containing MPRA enhancers 45, 51 and 106/107
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. Three overlapping sub-regions were validated as functional enhancers by high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. Each sub-region contains a motif for the HNF1, HNF4 and FOXA activators. Mutation of any of these motifs results in reduced enhancer activity. [provided by RefSeq, Dec 2017]
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Genomic context

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See LOC111365189 in Genome Data Viewer
Location:
20p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (8155417..8155601)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (8197382..8197566)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (8136064..8136248)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13354 Neighboring gene TMX4 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 6433 Neighboring gene 20p12 distal LINE-mediated recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12668 Neighboring gene phosphorylase kinase regulatory subunit beta pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17536 Neighboring gene phospholipase C beta 1 Neighboring gene PLCB1 intronic transcript 1 Neighboring gene NANOG hESC enhancer GRCh37_chr20:8290037-8290646 Neighboring gene uncharacterized LOC124900459 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:8444621-8445820

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 106/107
  • HNF1 activator MPRA enhancer 45
  • HNF4 activator MPRA enhancer 51
  • massively parallel reporter assay enhancers 45, 51 and 106/107

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_055803.3 

    Range
    101..285
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    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    8155417..8155601
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    8197382..8197566
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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