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LOC121627934 Sharpr-MPRA regulatory region 1007 [ Homo sapiens (human) ]

Gene ID: 121627934, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121627934
Gene description
Sharpr-MPRA regulatory region 1007
Gene type
biological region
Feature type(s)
regulatory: enhancer
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. A subregion 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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate 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 LOC121627934 in Genome Data Viewer
Location:
22q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24146238..24146616)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24607851..24608229)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24542205..24542583)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372959 Neighboring gene glutathione S-transferase theta 4 Neighboring gene calcineurin binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24487229-24487730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24487731-24488230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:24527017-24527518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24540118-24540852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24540853-24541588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18761 Neighboring gene skeletal muscle cis-regulatory module in CABIN1 intron Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24571075-24571934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24585541-24586182 Neighboring gene MPRA-validated peak4472 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18765 Neighboring gene sushi domain containing 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24601258-24602226 Neighboring gene uncharacterized LOC124905090 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:24609597-24610123

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 active region 18760

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_075125.2 

    Range
    101..479
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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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    24146238..24146616
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    24607851..24608229
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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