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LOC122861273 Sharpr-MPRA regulatory region 3165 [ Homo sapiens (human) ]

Gene ID: 122861273, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122861273
Gene description
Sharpr-MPRA regulatory region 3165
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 both HepG2 liver carcinoma cells (group: HepG2 Repressive DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin) and K562 erythroleukemia cells (group: K562 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 LOC122861273 in Genome Data Viewer
Location:
2q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (192773043..192773337)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (193261459..193261753)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (193637769..193638063)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CAVIN2 and TMEFF2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 5853 Neighboring gene DNAJB1 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:192867249-192867501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16884 Neighboring gene transmembrane protein with EGF like and two follistatin like domains 2 Neighboring gene NANOG hESC enhancer GRCh37_chr2:192976090-192976700 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:192994983-192995675 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:192995676-192996367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:193059605-193060180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:193372281-193372872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:193372873-193373463 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:193406886-193407706 Neighboring gene NANOG hESC enhancer GRCh37_chr2:193600042-193600633 Neighboring gene PCGEM1 prostate-specific transcript Neighboring gene ribosomal protein S17 pseudogene 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:193795141-193795642 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:193795643-193796142 Neighboring gene uncharacterized LOC107985969 Neighboring gene MPRA-validated peak3996 silencer

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_077089.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    192773043..192773337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    193261459..193261753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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