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LOC125418065 Sharpr-MPRA regulatory region 10330 [ Homo sapiens (human) ]

Gene ID: 125418065, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125418065
Gene description
Sharpr-MPRA regulatory region 10330
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 8:EnhW, candidate weak enhancer and 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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Location:
21q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (34974172..34974466)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (33356961..33357255)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:36118001-36118502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:36118503-36119002 Neighboring gene Sharpr-MPRA regulatory region 10169 Neighboring gene long intergenic non-protein coding RNA 1426 Neighboring gene RUNX1 element RE2 Neighboring gene RUNX family transcription factor 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:36208094-36209293 Neighboring gene RUNX1 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:36237597-36238796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:36239537-36240204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:36240205-36240870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13274 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:36258151-36258922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:36258923-36259694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13276 Neighboring gene Sharpr-MPRA regulatory region 10978 Neighboring gene NANOG hESC enhancer GRCh37_chr21:36332885-36333440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18412 Neighboring gene Sharpr-MPRA regulatory region 3099 Neighboring gene Sharpr-MPRA regulatory region 4684 Neighboring gene RUNX1 enhancer RE1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18417 Neighboring gene RUNX1 intronic transcript 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:36466332-36466488 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:36477528-36477706 Neighboring gene Sharpr-MPRA regulatory region 12281 Neighboring gene uncharacterized LOC124905015 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:36589399-36590598

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 18409

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_081091.1 

    Range
    101..395
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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
    34974172..34974466
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    33356961..33357255
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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