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LOC111365187 HNF1 motif-containing MPRA enhancer 48 [ Homo sapiens (human) ]

Gene ID: 111365187, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111365187
Gene description
HNF1 motif-containing MPRA enhancer 48
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 HNF1 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:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (68784525..68784669)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (62991391..62991535)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (69251242..69251386)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69203012-69203538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69203539-69204063 Neighboring gene RNA, U6 small nuclear 921, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69229160-69229660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69229661-69230161 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36402 Neighboring gene uncharacterized LOC107984709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69247495-69247996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5870 Neighboring gene Sharpr-MPRA regulatory region 7662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69256702-69257317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5872 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69261405-69261949 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8619 Neighboring gene ZFP36 ring finger protein like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69283011-69283750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8629 Neighboring gene Sharpr-MPRA regulatory region 4438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69310317-69310829 Neighboring gene mago homolog 3, pseudogene

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

  • HNF1 activator MPRA enhancer 48
  • massively parallel reporter assay enhancer 48

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_055801.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    68784525..68784669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    62991391..62991535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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