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LOC123497963 Sharpr-MPRA regulatory region 9682 [ Homo sapiens (human) ]

Gene ID: 123497963, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123497963
Gene description
Sharpr-MPRA regulatory region 9682
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 K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 13:Ctcf, distal CTCF/candidate insulator without open chromatin). [provided by RefSeq, Dec 2021]
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Genomic context

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Location:
5q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (124632136..124632430)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (125148583..125148877)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (123967829..123968123)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1170 Neighboring gene uncharacterized LOC107986448 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:123644150-123645142 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80867 Neighboring gene uncharacterized LOC105379155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16277 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:123777990-123778496 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:123804163-123805004 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:123832600-123833191 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:123833192-123833782 Neighboring gene NANOG hESC enhancer GRCh37_chr5:123837876-123838461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23009 Neighboring gene NANOG hESC enhancer GRCh37_chr5:123890213-123891101 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:123935182-123935396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23011 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:123984206-123984714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23012 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:123995996-123996689 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:123998129-123998646 Neighboring gene zinc finger protein 608 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:124044787-124045526 Neighboring gene NANOG hESC enhancer GRCh37_chr5:124068918-124069490 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:124073123-124073732 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:124074341-124074948 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:124077846-124078540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23013 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:124079931-124080624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23014 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:124082573-124083571 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:124083572-124084570 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:124086863-124087461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16279 Neighboring gene uncharacterized LOC105379156

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_077814.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    124632136..124632430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    125148583..125148877
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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