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LOC116276451 CRISPRi-validated cis-regulatory element chr16.1867 [ Homo sapiens (human) ]

Gene ID: 116276451, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116276451
Gene description
CRISPRi-validated cis-regulatory element chr16.1867
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 PRKCB (protein kinase C beta) gene on chromosome 16 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. This locus also includes two accessible chromatin subregions that were validated as enhancers based on their 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) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
16p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (23826470..23826929)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (24101851..24102310)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (23837878..23838250)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23716303-23716803 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:23740522-23741453 Neighboring gene polo like kinase 1 Neighboring gene endoplasmic reticulum to nucleus signaling 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:23766235-23766880 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr16:23797941-23798576 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:23798577-23799212 Neighboring gene CRISPRi-validated cis-regulatory element chr16.1865 Neighboring gene calcineurin like EF-hand protein 2 Neighboring gene CRISPRi-validated cis-regulatory element chr16.1866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23846913-23847460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:23847461-23848006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10590 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:23858657-23858875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10591 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:23877081-23877727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10592 Neighboring gene protein kinase C beta Neighboring gene GATA motif-containing MPRA enhancer 73 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:23915426-23915611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10598 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:24066265-24066934 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:24086836-24087648 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:24087649-24088461 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:24119013-24119512 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:24146937-24147472 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:24148009-24148544 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:24148545-24149080 Neighboring gene Sharpr-MPRA regulatory region 8464 Neighboring gene NANOG hESC enhancer GRCh37_chr16:24219906-24220465 Neighboring gene microRNA 1273h Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:24257631-24258830 Neighboring gene long intergenic non-protein coding RNA 2194

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. 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 10587
  • ATAC-STARR-seq lymphoblastoid active region 10588

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_067002.2 

    Range
    101..560
    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    23826470..23826929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    24101851..24102310
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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