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LOC111500310 HNF4 motif-containing MPRA enhancer 267 [ Homo sapiens (human) ]

Gene ID: 111500310, updated on 17-Sep-2024

Summary

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Gene symbol
LOC111500310
Gene description
HNF4 motif-containing MPRA enhancer 267
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 conserved motif for the HNF4 activator. Mutation of this motif results in reduced enhancer activity. [provided by RefSeq, Nov 2017]
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Genomic context

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See LOC111500310 in Genome Data Viewer
Location:
5q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (134626450..134626594)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (135152075..135152219)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (133962140..133962284)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16363 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:133868144-133868644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133873253-133873806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133874500-133875431 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133875432-133876362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133876363-133877294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23151 Neighboring gene jade family PHD finger 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133884143-133885142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16365 Neighboring gene U7 small nuclear RNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133916765-133917297 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133917298-133917829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23156 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133928109-133928702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23158 Neighboring gene secretion associated Ras related GTPase 1B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16366 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133968413-133968969 Neighboring gene RNA, U6 small nuclear 1311, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23159 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:133984123-133984660 Neighboring gene U7 small nuclear RNA Neighboring gene SEC24 homolog A, COPII coat complex component

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 267
  • massively parallel reporter assay enhancer 267

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_055925.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    134626450..134626594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    135152075..135152219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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