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LOC123256951 Sharpr-MPRA regulatory region 14541 [ Homo sapiens (human) ]

Gene ID: 123256951, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123256951
Gene description
Sharpr-MPRA regulatory region 14541
Gene type
biological region
Feature type(s)
regulatory: 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 the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Oct 2021]
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Genomic context

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See LOC123256951 in Genome Data Viewer
Location:
3q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (178202221..178202515)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (181005370..181005664)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (177920009..177920303)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374234 Neighboring gene RNA, U6 small nuclear 1120, pseudogene Neighboring gene Sharpr-MPRA regulatory region 11026 Neighboring gene uncharacterized LOC105374235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:177899843-177900344 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:177924996-177925652 Neighboring gene MPRA-validated peak4943 silencer Neighboring gene MPRA-validated peak4945 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:178061465-178061964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20848 Neighboring gene long intergenic non-protein coding RNA 1014 Neighboring gene RNA, 5S ribosomal pseudogene 148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20851 Neighboring gene peptidylprolyl isomerase A pseudogene 75

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

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)

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_077369.1 

    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    178202221..178202515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    181005370..181005664
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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