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LOC121366053 Sharpr-MPRA regulatory region 2638 [ Homo sapiens (human) ]

Gene ID: 121366053, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121366053
Gene description
Sharpr-MPRA regulatory region 2638
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 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 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). This region also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, May 2021]
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Genomic context

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See LOC121366053 in Genome Data Viewer
Location:
10q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (46052389..46052683)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (46933273..46933567)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (51543139..51543433, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene nuclear receptor coactivator 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:51574030-51574225 Neighboring gene Sharpr-MPRA regulatory region 5969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3324 Neighboring gene uncharacterized LOC105378287 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:51551103-51551604 Neighboring gene microseminoprotein beta Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:51541582-51542406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:51528729-51529229 Neighboring gene ribosomal protein L23a pseudogene 61 Neighboring gene Sharpr-MPRA regulatory region 10026 Neighboring gene Sharpr-MPRA regulatory regions 2667 and 7132 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 7, pseudogene

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_074403.1 

    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    46052389..46052683
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    46933273..46933567
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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