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LOC111464988 GATA motif-containing MPRA enhancer 235 [ Homo sapiens (human) ]

Gene ID: 111464988, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111464988
Gene description
GATA motif-containing MPRA enhancer 235
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 LOC111464988 in Genome Data Viewer
Location:
1q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (167548505..167548649)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (166899962..166900106)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (167517742..167517886)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1529 Neighboring gene CD247 molecule Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167455187-167455767 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167472740-167473240 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:167486398-167487597 Neighboring gene uncharacterized LOC107985224 Neighboring gene aldo-keto reductase family 1 member D1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167509239-167509739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1530 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:167533326-167534525 Neighboring gene cellular repressor of E1A stimulated genes 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2042 Neighboring gene ribosomal protein S18 pseudogene 4 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:167586581-167587780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167604143-167604666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167604667-167605189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2047 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:167625876-167626070 Neighboring gene RCSD domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2049 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:167649515-167649718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2050 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:167658487-167659686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167666863-167667545 Neighboring gene Sharpr-MPRA regulatory region 8181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2051

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 235
  • massively parallel reporter assay enhancer 235

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_055905.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    167548505..167548649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    166899962..166900106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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