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LOC111591502 GATA motif-containing MPRA enhancer 275 [ Homo sapiens (human) ]

Gene ID: 111591502, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111591502
Gene description
GATA motif-containing MPRA enhancer 275
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 motif for a GATA activator. Mutation of this motif results in reduced enhancer activity. [provided by RefSeq, Dec 2017]
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Genomic context

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See LOC111591502 in Genome Data Viewer
Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (18177512..18177656)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (18307061..18307205)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (18217135..18217279)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:18126389-18126937 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:18126938-18127485 Neighboring gene phosphoribosyl pyrophosphate synthetase 1 like 1 Neighboring gene MPRA-validated peak6414 silencer Neighboring gene MPRA-validated peak6415 silencer Neighboring gene microRNA 1302-6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25679 Neighboring gene histone deacetylase 9 Neighboring gene uncharacterized LOC124900248 Neighboring gene Sharpr-MPRA regulatory region 1729 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:18436382-18437097 Neighboring gene NANOG hESC enhancer GRCh37_chr7:18447067-18447568 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:18459909-18461108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25680 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:18548259-18549458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17987 Neighboring gene NANOG hESC enhancer GRCh37_chr7:18590148-18590649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:18613316-18613854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:18613855-18614393 Neighboring gene casein kinase 1 alpha 1 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
  3. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

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 275
  • massively parallel reporter assay enhancer 275

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_056093.1 

    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    18177512..18177656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    18307061..18307205
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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