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LOC111413012 H3K4me1 hESC enhancer GRCh37_chr11:120088347-120088930 [ Homo sapiens (human) ]

Gene ID: 111413012, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111413012
Gene description
H3K4me1 hESC enhancer GRCh37_chr11:120088347-120088930
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 an active 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. A subregion was also validated as an 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. [provided by RefSeq, Jan 2023]
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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 (120217639..120218222)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (120240472..120241024)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (120088747..120088891)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902773 Neighboring gene uncharacterized LOC105369530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120067578-120068078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120068079-120068579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120080493-120081034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120091419-120091918 Neighboring gene out at first homolog Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120105831-120106053 Neighboring gene POU class 2 homeobox 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:120119877-120120516 Neighboring gene Sharpr-MPRA regulatory region 564 Neighboring gene uncharacterized LOC649133 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120135803-120135974 Neighboring gene uncharacterized LOC105369531 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120146894-120147083

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
  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

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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 139
  • HNF4 motif-containing MPRA enhancer 139
  • massively parallel reporter assay enhancer 139

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_055845.2 

    Range
    101..684
    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
    120217639..120218222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    120240472..120241024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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