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LOC111465015 HNF4 motif-containing MPRA enhancer 256 [ Homo sapiens (human) ]

Gene ID: 111465015, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111465015
Gene description
HNF4 motif-containing MPRA enhancer 256
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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Location:
11q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (121067517..121067661)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (121091263..121091407)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (120938226..120938370)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene glutamate ionotropic receptor kainate type subunit 4 Neighboring gene uncharacterized LOC101929208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120826209-120826709 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120829234-120829455 Neighboring gene high mobility group box 1 pseudogene 42 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3997 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3999 Neighboring gene TBCEL-TECTA readthrough Neighboring gene tubulin folding cofactor E like Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 Neighboring gene tectorin alpha Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:121083583-121084082 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:121106857-121107396 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:121107397-121107936 Neighboring gene uncharacterized LOC105369533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:121107937-121108476 Neighboring gene TRPC6 pseudogene 5

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

  • HNF4 activator MPRA enhancer 256
  • massively parallel reporter assay enhancer 256

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_055919.1 

    Range
    101..245
    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
    121067517..121067661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    121091263..121091407
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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