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LOC111429603 FOXA motif-containing MPRA enhancer 200 [ Homo sapiens (human) ]

Gene ID: 111429603, updated on 17-Sep-2024

Summary

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Gene symbol
LOC111429603
Gene description
FOXA motif-containing MPRA enhancer 200
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 K562 erythroleukemia 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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See LOC111429603 in Genome Data Viewer
Location:
1q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (202087062..202087206)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (201344610..201344754)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202056190..202056334)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene arginyl aminopeptidase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201973460-201974102 Neighboring gene ELF3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201977313-201977954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201979681-201980614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201980615-201981549 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:201982359-201983558 Neighboring gene microRNA 6740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201987061-201987829 Neighboring gene E74 like ETS transcription factor 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202038709-202039458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202041245-202041744 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202053789-202054548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202054549-202055308 Neighboring gene uncharacterized LOC105371684 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:202072166-202073140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202073141-202074115 Neighboring gene cysteine rich protein 1 pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202077042-202078015 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10703 Neighboring gene uncharacterized LOC105371683 Neighboring gene G protein-coupled receptor 37 like 1

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

  • FOXA activator MPRA enhancer 200
  • massively parallel reporter assay enhancer 200

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_055882.1 

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    202087062..202087206
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    201344610..201344754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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