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LOC125371523 Sharpr-MPRA regulatory region 1615 [ Homo sapiens (human) ]

Gene ID: 125371523, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125371523
Gene description
Sharpr-MPRA regulatory region 1615
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 both HepG2 liver carcinoma cells (group: HepG2 Repressive DNase unmatched - State 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
19q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (42139737..42140431)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44959113..44959807)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene glutamate ionotropic receptor kainate type subunit 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14697 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10683 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10684 Neighboring gene zinc finger protein 574 Neighboring gene POU class 2 homeobox 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14702 Neighboring gene microRNA 4323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42653684-42654184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42654185-42654685 Neighboring gene long non-coding regulator of POU2F2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42659146-42659674 Neighboring gene POU2F2 antisense RNA 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:42669363-42669586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42680337-42680839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42700904-42701445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42703016-42703552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14706 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:42720960-42721165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42722188-42723064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42723065-42723940 Neighboring gene death effector domain containing 2

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_chr19:42643889-42644390

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_080824.2 

    Range
    101..795
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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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    42139737..42140431
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    44959113..44959807
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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