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LOC122056816 Sharpr-MPRA regulatory region 12118 [ Homo sapiens (human) ]

Gene ID: 122056816, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122056816
Gene description
Sharpr-MPRA regulatory region 12118
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 3:PromF, promoter flanking) and K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 5:Enh, candidate strong enhancer, 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 (28644617..28644911)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (28486582..28486876)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28971129..28971423)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28907091-28907876 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28907877-28908662 Neighboring gene small nucleolar RNA, H/ACA box 16A Neighboring gene small nucleolar RNA host gene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28919769-28920505 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28925585-28926166 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28928951-28929451 Neighboring gene RAB42, member RAS oncogene family Neighboring gene TATA-box binding protein associated factor 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28971631-28972130 Neighboring gene TAF12 divergent transcript Neighboring gene RNA, U11 small nuclear Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28998036-28998554 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29007753-29008252 Neighboring gene glucocorticoid modulatory element binding protein 1 Neighboring gene small Cajal body-specific RNA 24

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_076272.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    28644617..28644911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    28486582..28486876
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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