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LOC122056840 Sharpr-MPRA regulatory region 1123 [ Homo sapiens (human) ]

Gene ID: 122056840, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122056840
Gene description
Sharpr-MPRA regulatory region 1123
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 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC122056840 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (36572208..36572502)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (36435115..36435409)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (37037809..37038103)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:36929292-36930491 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36931829-36932691 Neighboring gene mitochondrial ribosomal protein S15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36946417-36947202 Neighboring gene colony stimulating factor 3 receptor Neighboring gene Sharpr-MPRA regulatory region 4345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 757 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:36989208-36989708 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:36989709-36990209 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36999986-37000486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:37000487-37000987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:37054575-37055075 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7558 Neighboring gene ferritin light chain pseudogene 18 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 760 Neighboring gene uncharacterized LOC107984941 Neighboring gene uncharacterized LOC105378648

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_076296.1 

    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
    36572208..36572502
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    36435115..36435409
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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