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LOC111413047 GATA motif-containing MPRA enhancer 196 [ Homo sapiens (human) ]

Gene ID: 111413047, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111413047
Gene description
GATA motif-containing MPRA enhancer 196
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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Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (113914326..113914470)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (113925988..113926132)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (114456948..114457092)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene AP4B1 antisense RNA 1 Neighboring gene BCL2 like 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1541 Neighboring gene adaptor related protein complex 4 subunit beta 1 Neighboring gene DNA cross-link repair 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1218 Neighboring gene HIPK1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:114480377-114480904 Neighboring gene homeodomain interacting protein kinase 1 Neighboring gene MPRA-validated peak375 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:114519457-114520034 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:114521340-114522173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:114523841-114524673 Neighboring gene olfactomedin like 3

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 196
  • massively parallel reporter assay enhancer 196

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_055877.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    113914326..113914470
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    113925988..113926132
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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