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LOC125418084 Sharpr-MPRA regulatory region 2317 [ Homo sapiens (human) ]

Gene ID: 125418084, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125418084
Gene description
Sharpr-MPRA regulatory region 2317
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. A subregion 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 6:EnhF, candidate strong enhancer, flanking open chromatin). 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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See LOC125418084 in Genome Data Viewer
Location:
21q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44881434..44881748)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (43242188..43242502)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr21:46227083-46227236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46235315-46235829 Neighboring gene small ubiquitin like modifier 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13389 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13391 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:46243688-46244247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46254495-46254996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46265244-46265744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46265745-46266245 Neighboring gene PTTG1 interacting protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46282185-46282898 Neighboring gene uncharacterized LOC124905039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18578 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:46292726-46293226 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:46293227-46293727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46293885-46294562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46317333-46317948 Neighboring gene integrin subunit beta 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46326258-46326823 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46326824-46327388 Neighboring gene uncharacterized LOC107987303 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46329075-46329574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46333656-46334156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46337409-46338321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46345923-46346812 Neighboring gene ITGB2 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:46347045-46348244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18581

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

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 18579

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_081110.2 

    Range
    101..415
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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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    44881434..44881748
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    43242188..43242502
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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