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LOC121627888 Sharpr-MPRA regulatory region 4174 [ Homo sapiens (human) ]

Gene ID: 121627888, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627888
Gene description
Sharpr-MPRA regulatory region 4174
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. The major subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. Another subregion was validated as an 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 matched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC121627888 in Genome Data Viewer
Location:
19q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (53898775..53899708)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (56978480..56979414)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54402029..54402323)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54300296-54300796 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54301378-54301878 Neighboring gene NLR family pyrin domain containing 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54332809-54333578 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54334349-54335116 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54335887-54336656 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54337427-54338194 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:54339735-54340504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54342811-54343580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54343581-54344348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54361270-54361770 Neighboring gene MYADM antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54369942-54370917 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54372027-54372940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54372941-54373854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54385903-54386454 Neighboring gene myeloid associated differentiation marker Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54395841-54396380 Neighboring gene protein kinase C gamma Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54410617-54411158 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 7 Neighboring gene MPRA-validated peak3551 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:54460576-54461110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54463321-54464221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54465032-54465552 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54483237-54483769 Neighboring gene microRNA 935

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. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54402031-54402962

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_075079.2 

    Range
    101..1034
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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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    53898775..53899708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    56978480..56979414
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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