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LOC125418077 Sharpr-MPRA regulatory region 15350 [ Homo sapiens (human) ]

Gene ID: 125418077, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125418077
Gene description
Sharpr-MPRA regulatory region 15350
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 both HepG2 liver carcinoma cells (group: HepG2 Repressive DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched). 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 (42107683..42108073)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (40497763..40498153)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13337 Neighboring gene zinc finger and BTB domain containing 21 Neighboring gene ZNF295 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43460101-43460604 Neighboring gene uncharacterized LOC107985502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43461111-43461614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43463997-43464496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43479981-43480564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43480565-43481148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43487460-43488014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43492613-43493114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43493115-43493614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43496211-43496710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43495709-43496210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43501841-43502776 Neighboring gene uromodulin like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43513487-43513992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43523509-43524067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43524068-43524625 Neighboring gene UMODL1 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43540119-43540824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43541661-43542598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43542599-43543535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43544863-43545636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43545637-43546408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43613112-43613612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43628760-43629260 Neighboring gene uncharacterized LOC105372814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43640159-43640690 Neighboring gene ATP binding cassette subfamily G member 1 Neighboring gene RNA, 5S ribosomal pseudogene 492

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 18503

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_081103.2 

    Range
    101..491
    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    42107683..42108073
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    40497763..40498153
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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