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LOC116309134 H3K4me1 hESC enhancer GRCh37_chr22:38800019-38800518 [ Homo sapiens (human) ]

Gene ID: 116309134, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116309134
Gene description
H3K4me1 hESC enhancer GRCh37_chr22:38800019-38800518
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 represents a DNase I hypersensitive site (DHS) that was predicted to be an enhancer by the ENCODE (ENCyclopedia Of DNA Elements) project based on various combinations of H3K27 acetylation and binding of p300, GATA1 and RNA polymerase II in K562 erythroleukemia cells. It 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 H3K4me1 histone modification. A subregion was also validated as a cis-regulatory element for the LGALS1 (galectin 1) gene on chromosome 22 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. [provided by RefSeq, Jan 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 (38404014..38404513)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38868280..38868777)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38800145..38800331)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TPTEP2-CSNK1E readthrough Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38694325-38695524 Neighboring gene casein kinase 1 epsilon Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38706687-38707466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13715 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38714878-38715782 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38718279-38719070 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38720450-38720962 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:38720963-38721473 Neighboring gene Sharpr-MPRA regulatory region 8587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38723521-38724032 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:38737560-38737744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38740513-38741012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38743105-38744002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13716 Neighboring gene TPTE pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38793649-38794432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38799517-38800018 Neighboring gene uncharacterized LOC105373030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38813561-38814060 Neighboring gene uncharacterized LOC101927183 Neighboring gene potassium inwardly rectifying channel subfamily J member 4

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. A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens. Gasperini M, et al. Cell, 2019 Jan 10. PMID 30612741, Free PMC Article
  2. An integrated encyclopedia of DNA elements in the human genome. ENCODE Project Consortium. Nature, 2012 Sep 6. PMID 22955616, Free PMC Article
  3. The accessible chromatin landscape of the human genome. Thurman RE, et al. Nature, 2012 Sep 6. PMID 22955617, Free PMC Article
  4. 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

  • CRISPRi-validated cis-regulatory element chr22.1870

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_067103.2 

    Range
    101..600
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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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    38404014..38404513
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    38868280..38868777
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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