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LOC125177386 Sharpr-MPRA regulatory region 8769 [ Homo sapiens (human) ]

Gene ID: 125177386, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125177386
Gene description
Sharpr-MPRA regulatory region 8769
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. The major subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it is marked by the H3K4me1 histone modification. Another subregion was validated as a 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). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
16q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (86337223..86338273)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (92405054..92406104)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86329547-86330048 Neighboring gene long intergenic non-protein coding RNA 2135 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:86331997-86332570 Neighboring gene Sharpr-MPRA regulatory region 7763 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:86340947-86342146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86342206-86342723 Neighboring gene uncharacterized LOC124903745 Neighboring gene long intergenic non-protein coding RNA 917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86393693-86394193 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86410784-86411320 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46362 Neighboring gene LINC00917-FENDRR intergenic CAGE-defined mid-level expression enhancer Neighboring gene VISTA enhancer hs1 Neighboring gene Sharpr-MPRA regulatory region 1422 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:86466900-86467129 Neighboring gene chloride intracellular channel 1 pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:86499943-86501142 Neighboring gene FOXF1 adjacent non-coding developmental regulatory RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86531905-86532529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86534107-86534663

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. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

General gene information

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Other Names

  • H3K4me1 hESC enhancer GRCh37_chr16:86370948-86371879

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_080443.2 

    Range
    101..1151
    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    86337223..86338273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    92405054..92406104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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