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LOC111556143 GATA motif-containing MPRA enhancer 88 [ Homo sapiens (human) ]

Gene ID: 111556143, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111556143
Gene description
GATA motif-containing MPRA enhancer 88
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 LOC111556143 in Genome Data Viewer
Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (119665701..119665845)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (119652983..119653127)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (120103506..120103650)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:119807339-119808538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7114 Neighboring gene coiled-coil domain containing 60 Neighboring gene uncharacterized LOC105370027 Neighboring gene NANOG hESC enhancer GRCh37_chr12:119828163-119828664 Neighboring gene NANOG hESC enhancer GRCh37_chr12:119861020-119861540 Neighboring gene MPRA-validated peak2000 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:119924434-119924986 Neighboring gene MPRA-validated peak2001 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120031567-120032140 Neighboring gene transmembrane protein 233 Neighboring gene RN7SK pseudogene 197 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120106633-120107268 Neighboring gene uncharacterized LOC124903033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120115207-120115708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120115709-120116208 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:120117012-120118211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120125555-120126425 Neighboring gene protein kinase AMP-activated non-catalytic subunit beta 1 Neighboring gene microRNA 1178 Neighboring gene citron rho-interacting serine/threonine kinase

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 88
  • massively parallel reporter assay enhancer 88

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_055970.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    119665701..119665845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    119652983..119653127
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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