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LOC121725130 Sharpr-MPRA regulatory region 227/3570 [ Homo sapiens (human) ]

Gene ID: 121725130, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121725130
Gene description
Sharpr-MPRA regulatory region 227/3570
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 enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress 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:
3p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (14508961..14509255)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (14511367..14511661)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (14550469..14550763)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14435811-14436550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19507 Neighboring gene RNA, 5S ribosomal pseudogene 124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19508 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:14447712-14447882 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:14451820-14453019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14094 Neighboring gene solute carrier family 6 member 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14462886-14463709 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14463710-14464532 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:14469801-14469955 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14473371-14474282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14476107-14477018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14477019-14477930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14480905-14481405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14492974-14493781 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14500879-14501379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14501865-14502386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14502387-14502908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14502909-14503430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14513531-14514422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14537432-14537994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14539103-14539603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14546947-14547448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14547449-14547948 Neighboring gene glutamate receptor interacting protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14555415-14555916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14559661-14560465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14562934-14563775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14563776-14564616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14566631-14567132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14567133-14567632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14573046-14573836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14573837-14574627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14577662-14578621 Neighboring gene RNA, U6 small nuclear 905, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14584584-14585084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14589426-14589926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14605328-14605895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14615395-14615896 Neighboring gene RHBDF1 pseudogene 1

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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid silent region 14095
  • Sharpr-MPRA regulatory region 227
  • Sharpr-MPRA regulatory region 3570

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_075599.1 

    Range
    101..395
    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    14508961..14509255
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    14511367..14511661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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