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LOC115945160 CRISPRi-validated cis-regulatory element chr2.2482 [ Homo sapiens (human) ]

Gene ID: 115945160, updated on 10-Oct-2023

Summary

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Gene symbol
LOC115945160
Gene description
CRISPRi-validated cis-regulatory element chr2.2482
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. A subregion was validated as a high-confidence cis-regulatory element for the AAK1 (AP2 associated kinase 1) gene on chromosome 2 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. The AAK1 regulatory target for this locus is involved in SARS-CoV-2 infection. Another 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 H3K4me1 histone modification. [provided by RefSeq, Jan 2023]
Annotation information
Note: This locus has been reviewed for its involvement in coronavirus biology, and is involved in host gene regulation.
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Genomic context

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Location:
2p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (68829102..68829918)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (68841548..68842364)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (69056234..69056865)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene prokineticin receptor 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:68906264-68906888 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:68906889-68907513 Neighboring gene Sharpr-MPRA regulatory region 5025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15958 Neighboring gene Rho GTPase activating protein 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15959 Neighboring gene NANOG hESC enhancer GRCh37_chr2:68971645-68972146 Neighboring gene uncharacterized LOC105374790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:69042669-69043169 Neighboring gene long intergenic non-protein coding RNA 1890 Neighboring gene long intergenic non-protein coding RNA 1888 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:69098345-69098505 Neighboring gene bone morphogenetic protein 10

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

  • H3K4me1 hESC enhancer GRCh37_chr2:69056551-69057050

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_066560.2 

    Range
    101..917
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    68829102..68829918
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    68841548..68842364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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