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LOC121627950 Sharpr-MPRA regulatory region 5125 [ Homo sapiens (human) ]

Gene ID: 121627950, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627950
Gene description
Sharpr-MPRA regulatory region 5125
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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase matched - 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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Location:
22q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (43945810..43946203)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (44428945..44429338)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (44341789..44342083)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44223866-44224628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44240991-44241816 Neighboring gene sulfotransferase family 4A member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44247635-44248134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44256209-44256708 Neighboring gene Sharpr-MPRA regulatory region 15126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44279103-44279833 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:44293320-44294519 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44301043-44301543 Neighboring gene patatin like phospholipase domain containing 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44317583-44318083 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:44319500-44320244 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:44320245-44320987 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:44347552-44347721 Neighboring gene patatin like phospholipase domain containing 3 Neighboring gene H3K27ac hESC enhancers GRCh37_chr22:44350547-44351299 and GRCh37_chr22:44351300-44352051 Neighboring gene ribosomal protein L35a pseudogene 36 Neighboring gene SAMM50 sorting and assembly machinery component Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19196 Neighboring gene uncharacterized LOC124905131 Neighboring gene parvin beta

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 across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. 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 19192

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_075142.2 

    Range
    101..494
    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    43945810..43946203
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    44428945..44429338
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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