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LOC111465018 GATA motif-containing MPRA enhancer 260 [ Homo sapiens (human) ]

Gene ID: 111465018, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111465018
Gene description
GATA motif-containing MPRA enhancer 260
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:
8p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (26391159..26391303)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (26667723..26667867)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (26248675..26248819)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19038 Neighboring gene protein phosphatase 2 regulatory subunit Balpha Neighboring gene Sharpr-MPRA regulatory region 13890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:26192157-26192656 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:26239047-26240246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19039 Neighboring gene Sharpr-MPRA regulatory region 12075 Neighboring gene SDA1 domain containing 1 pseudogene 1 Neighboring gene BCL2 interacting protein 3 like Neighboring gene Sharpr-MPRA regulatory region 1267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27127 Neighboring gene DNAJB6 pseudogene 2 Neighboring gene vegetative cell wall protein gp1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19042

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 260
  • massively parallel reporter assay enhancer 260

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_055922.1 

    Range
    101..245
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    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    26391159..26391303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    26667723..26667867
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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