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LOC122756671 Sharpr-MPRA regulatory region 9030 [ Homo sapiens (human) ]

Gene ID: 122756671, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122756671
Gene description
Sharpr-MPRA regulatory region 9030
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 18:Pol2, Pol2 specific locations, majority in genes but substantial portion in intergenic locations). [provided by RefSeq, Sep 2021]
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Genomic context

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See LOC122756671 in Genome Data Viewer
Location:
2p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (24833200..24833494)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (24867944..24868238)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (25056069..25056363)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15435 Neighboring gene peptidyl-tRNA hydrolase domain containing 1 Neighboring gene centromere protein O Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25044835-25045378 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25045379-25045923 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25048335-25048894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25048895-25049453 Neighboring gene uncharacterized LOC105377626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25056543-25057467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25057468-25058391 Neighboring gene adenylate cyclase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25097035-25097779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25121605-25122524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25126133-25126634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25126635-25127134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15436 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11235 Neighboring gene uncharacterized LOC124907742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25149032-25149746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15437 Neighboring gene DnaJ heat shock protein family (Hsp40) member C27 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:25180226-25181180 Neighboring gene ribosomal protein S13 pseudogene 5

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_076887.1 

    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
    24833200..24833494
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    24867944..24868238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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