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LOC120807611 H3K27me3-DHS negatively-acting regulatory element H2 [ Homo sapiens (human) ]

Gene ID: 120807611, updated on 10-Oct-2023

Summary

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Gene symbol
LOC120807611
Gene description
H3K27me3-DHS negatively-acting regulatory element H2
Gene type
biological region
Feature type(s)
regulatory: transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region was predicted to be a gene regulatory element based on the presence of histone H3 lysine 27 tri-methylation overlapping a DNase I hypersensitive site (H3K27me3-DHS). It was experimentally validated as a negatively-acting cis element that reduces activity of an enhancer-driven reporter gene in K562 erythroleukemia cells. [provided by RefSeq, Mar 2021]
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Genomic context

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Location:
10q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (70243569..70244005)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (71112518..71112954)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72003325..72003761)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S25 pseudogene 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71981496-71981996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71981997-71982497 Neighboring gene inorganic pyrophosphatase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2443 Neighboring gene neuropeptide FF receptor 1 Neighboring gene Sharpr-MPRA regulatory region 3619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72042967-72043468 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:72051346-72051556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3500 Neighboring gene leucine rich repeat containing 20 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2444 Neighboring gene Sharpr-MPRA regulatory region 4423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72094756-72095256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3502 Neighboring gene NANOG hESC enhancer GRCh37_chr10:72128656-72129157 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72141592-72142211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2445

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. Reduced H3K27me3 levels in diffuse gliomas: association with 1p/19q codeletion and difference from H3K27me3 loss in malignant peripheral nerve sheath tumors. Kitahama K, et al. Brain Tumor Pathol, 2021 Jan. PMID 32989606
  2. Identification of human silencers by correlating cross-tissue epigenetic profiles and gene expression. Huang D, et al. Genome Res, 2019 Apr. PMID 30886051, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Reduced H3K27me3 levels in diffuse gliomas: association with 1p/19q codeletion and difference from H3K27me3 loss in malignant peripheral nerve sheath tumors.
    Title: Reduced H3K27me3 levels in diffuse gliomas: association with 1p/19q codeletion and difference from H3K27me3 loss in malignant peripheral nerve sheath tumors.
Submit: New GeneRIF Correction

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_073737.1 

    Range
    101..537
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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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    70243569..70244005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    71112518..71112954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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Other Literature Sources
Molecular Biology Databases