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LOC123464493 Sharpr-MPRA regulatory region 14852 [ Homo sapiens (human) ]

Gene ID: 123464493, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123464493
Gene description
Sharpr-MPRA regulatory region 14852
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 23:Low, low signal proximal to active elements). [provided by RefSeq, Nov 2021]
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Genomic context

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Location:
3q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (194086800..194087094)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (196783467..196783761)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (193804589..193804883)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2026 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:193714630-193715557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:193721507-193722022 Neighboring gene developmental pluripotency associated 2 pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 2028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:193749967-193750544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:193774732-193775677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:193780351-193780851 Neighboring gene uncharacterized LOC102724877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15014 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:193853895-193855094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21016 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:193858467-193859461 Neighboring gene RNA, 7SL, cytoplasmic 215, pseudogene Neighboring gene hes family bHLH transcription factor 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

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_077478.1 

    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
    194086800..194087094
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    196783467..196783761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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