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LOC120893154 Sharpr-MPRA regulatory region 8666 [ Homo sapiens (human) ]

Gene ID: 120893154, updated on 12-Sep-2024

Summary

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Gene symbol
LOC120893154
Gene description
Sharpr-MPRA regulatory region 8666
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC120893154 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 (113042667..113042961)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (113057072..113057366)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (113585289..113585583)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1207 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:113499595-113500183 Neighboring gene SLC16A1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113511652-113512152 Neighboring gene uncharacterized LOC107985189 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:113538968-113539144 Neighboring gene VISTA enhancer hs1672 Neighboring gene LRIG2 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:113568308-113569055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:113569056-113569802 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:113569803-113570550 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:113570551-113571296 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:113584341-113585260 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:113586182-113587101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1524 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:113615599-113616132 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:113616133-113616664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1527 Neighboring gene leucine rich repeats and immunoglobulin like domains 2 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7885 Neighboring gene ring finger protein, LIM domain interacting pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:113701114-113701959 Neighboring gene ribosomal protein S19 pseudogene 2

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
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, 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)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid silent region 1208

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_073914.1 

    Range
    101..395
    Download
    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
    113042667..113042961
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    113057072..113057366
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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