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LOC113939914 Sharpr-MPRA regulatory region 10762 [ Homo sapiens (human) ]

Gene ID: 113939914, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113939914
Gene description
Sharpr-MPRA regulatory region 10762
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:
10q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (116676326..116676952)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (117570652..117571278)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (118436169..118436463)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene pancreatic lipase related protein 2 (gene/pseudogene) Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:118393650-118394849 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:118405699-118406228 Neighboring gene HSPA12A antisense RNA 1 Neighboring gene sperm microtubule inner protein 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118441833-118442334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118442335-118442834 Neighboring gene heat shock protein family A (Hsp70) member 12A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118450610-118451348 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:118453631-118454602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:118501942-118502646 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:118502647-118503350 Neighboring gene ribosomal protein L5 pseudogene 27 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:118526330-118526895 Neighboring gene uncharacterized LOC105378498

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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • H3K4me1 hESC enhancer GRCh37_chr10:118435837-118436347

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_063700.2 

    Range
    101..727
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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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    116676326..116676952
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791790.1 Reference GRCh38.p14 PATCHES

    Range
    87322..87948
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    117570652..117571278
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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