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LOC111365179 HNF4 motif-containing MPRA enhancer 23 [ Homo sapiens (human) ]

Gene ID: 111365179, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111365179
Gene description
HNF4 motif-containing MPRA enhancer 23
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:
12p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (15629255..15629399)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (15506481..15506625)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (15782189..15782333)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase receptor type O Neighboring gene ribosomal protein S2 pseudogene 42 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:15678492-15679691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6067 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:15687897-15689096 Neighboring gene uncharacterized LOC105369672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6070 Neighboring gene EGFR pathway substrate 8, signaling adaptor Neighboring gene RNA, U6 small nuclear 251, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4278 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4279 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4280 Neighboring gene mitochondrial ribosomal protein S7 pseudogene 2

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 23
  • massively parallel reporter assay enhancer 23

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_055792.1 

    Range
    101..245
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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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    15629255..15629399
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    15506481..15506625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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