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LOC123493311 Sharpr-MPRA regulatory region 489 [ Homo sapiens (human) ]

Gene ID: 123493311, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123493311
Gene description
Sharpr-MPRA regulatory region 489
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
5q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (56670202..56670496)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (57498435..57498729)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (55966029..55966323)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:55810478-55810978 Neighboring gene ribosomal protein L26 pseudogene 19 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:55830028-55830580 Neighboring gene chromosome 5 putative open reading frame 67 Neighboring gene MPRA-validated peak5248 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22568 Neighboring gene VISTA enhancer hs1638 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:55933112-55933681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22571 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:56052539-56053040 Neighboring gene growth/differentiation factor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22572 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16021 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16022 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:56112185-56113008 Neighboring gene Sharpr-MPRA regulatory region 15646 Neighboring gene NANOG hESC enhancer GRCh37_chr5:56121191-56121701 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86205 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:56139908-56140150 Neighboring gene mitogen-activated protein kinase kinase kinase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:56146868-56147047 Neighboring gene uncharacterized LOC124901214

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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

  • ATAC-STARR-seq lymphoblastoid active region 22569

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_077735.1 

    Range
    101..395
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    56670202..56670496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    57498435..57498729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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