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LOC111365194 FOXA motif-containing MPRA enhancer 62 [ Homo sapiens (human) ]

Gene ID: 111365194, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111365194
Gene description
FOXA motif-containing MPRA enhancer 62
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 FOXA 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:
6p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (52589186..52589330)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (52427933..52428077)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (52453984..52454128)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr6:52362612-52362813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24679 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:52368564-52369763 Neighboring gene translocation associated membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:52389524-52390029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:52390030-52390534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24685 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:52438134-52438662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17284 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17285 Neighboring gene TRAM2 antisense RNA 1 (head to head) Neighboring gene uncharacterized LOC124901330 Neighboring gene SH3 domain binding glutamate rich protein like 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 Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • FOXA activator MPRA enhancer 62
  • massively parallel reporter assay enhancer 62

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_055809.1 

    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    52589186..52589330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    52427933..52428077
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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