U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC111429625 HNF4 motif-containing MPRA enhancer 223 [ Homo sapiens (human) ]

Gene ID: 111429625, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC111429625
Gene description
HNF4 motif-containing MPRA enhancer 223
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. A subregion was validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. That subregion contains a conserved motif for the HNF4 activator, and mutation of the motif results in reduced enhancer activity. Another subregion was also validated as an enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it is marked by the H3K4me1 histone modification. [provided by RefSeq, Jan 2023]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC111429625 in Genome Data Viewer
Location:
11q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119368425..119369371)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119389951..119390897)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119239135..119239279)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119204879-119205770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3979 Neighboring gene C1q and TNF related 5 Neighboring gene ring finger protein 26 Neighboring gene membrane frizzled-related protein Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:119228534-119229733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119243670-119244170 Neighboring gene ubiquitin specific peptidase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119247037-119247615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119247932-119248520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119251478-119252467 Neighboring gene USP2 antisense RNA 1 Neighboring gene major facilitator superfamily domain containing 14B pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119290361-119290928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119292628-119293194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119293195-119293760 Neighboring gene Thy-1 cell surface antigen

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • H3K4me1 hESC enhancer GRCh37_chr11:119239151-119240081
  • HNF4 activator MPRA enhancer 223
  • massively parallel reporter assay enhancer 223

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_055898.2 

    Range
    101..1047
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    119368425..119369371
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    119389951..119390897
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases