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LOC122819154 Sharpr-MPRA regulatory region 3869 [ Homo sapiens (human) ]

Gene ID: 122819154, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122819154
Gene description
Sharpr-MPRA regulatory region 3869
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 DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Oct 2021]
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Genomic context

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See LOC122819154 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 (132255096..132255390)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (132690682..132690976)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (133012669..133012963)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 30B like Neighboring gene RNA, U6 small nuclear 1132, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:132919818-132920318 Neighboring gene NANOG hESC enhancer GRCh37_chr2:132971497-132971998 Neighboring gene OCT4 hESC enhancer GRCh37_chr2:132980674-132981222 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:132984155-132984765 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:132998825-132999732 Neighboring gene uncharacterized LOC107985804 Neighboring gene RNA, 18S ribosomal pseudogene Neighboring gene RNA, 5.8S ribosomal pseudogene 5 Neighboring gene microRNA 663b Neighboring gene cell division cycle 27 pseudogene 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_077014.1 

    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
    132255096..132255390
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    132690682..132690976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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