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LOC122056857 Sharpr-MPRA regulatory region 9521 [ Homo sapiens (human) ]

Gene ID: 122056857, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122056857
Gene description
Sharpr-MPRA regulatory region 9521
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 8:EnhW, candidate weak enhancer and open chromatin) and K562 erythroleukemia cells (group: K562 Repressive DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45300237..45300531)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (45171783..45172077)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45765909..45766203)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:45479433-45479969 Neighboring gene zinc finger SWIM-type containing 5 Neighboring gene uroporphyrinogen decarboxylase Neighboring gene oligosaccharyltransferase complex subunit pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 10410 Neighboring gene MPRA-validated peak198 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45670855-45671755 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45671756-45672655 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:45688973-45689613 Neighboring gene uncharacterized LOC105378691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 828 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 962 Neighboring gene long intergenic non-protein coding RNA 1144 Neighboring gene Sharpr-MPRA regulatory region 12838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 965 Neighboring gene 4-hydroxyphenylpyruvate dioxygenase like

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_076313.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    45300237..45300531
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    45171783..45172077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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