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LOC111413037 GATA motif-containing MPRA enhancer 176/177 [ Homo sapiens (human) ]

Gene ID: 111413037, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111413037
Gene description
GATA motif-containing MPRA enhancer 176/177
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 a GATA 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 LOC111413037 in Genome Data Viewer
Location:
11p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (12116529..12116673)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (12208383..12208527)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (12138076..12138220)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2547 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:12087483-12088682 Neighboring gene Sharpr-MPRA regulatory region 886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:12114457-12114957 Neighboring gene long intergenic non-protein coding RNA 2989 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:12125283-12125783 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:12132043-12132746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:12158230-12158730 Neighboring gene microtubule associated monooxygenase, calponin and LIM domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:12160461-12161004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:12161005-12161546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:12184971-12185470 Neighboring gene Sharpr-MPRA regulatory region 10887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:12200287-12201161 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:12203881-12204381 Neighboring gene microRNA 6124 Neighboring gene Sharpr-MPRA regulatory region 12121 Neighboring gene uncharacterized LOC124902634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:12238418-12238918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:12238919-12239419

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

  • GATA activator MPRA enhancer 176/177
  • massively parallel reporter assay enhancer 176/177

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_055867.1 

    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    12116529..12116673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    12208383..12208527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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