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LOC122056822 Sharpr-MPRA regulatory region 1173 [ Homo sapiens (human) ]

Gene ID: 122056822, updated on 12-Sep-2024

Summary

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Gene symbol
LOC122056822
Gene description
Sharpr-MPRA regulatory region 1173
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 non-DNase unmatched - State 21:Repr, strong Polycomb repression) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC122056822 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (30856302..30856596)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (30708584..30708878)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (31329149..31329443)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1778 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31317155-31317674 Neighboring gene Sharpr-MPRA regulatory region 1191 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31320286-31321089 Neighboring gene RN7SK pseudogene 91 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31322620-31323120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31323121-31323621 Neighboring gene uncharacterized LOC400748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31343383-31344254 Neighboring gene syndecan 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31358623-31359123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31363707-31364422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31368603-31369362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 563

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_076278.1 

    Range
    101..395
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    30856302..30856596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    30708584..30708878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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