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LOC116309125 CRISPRi-validated cis-regulatory element chr21.1536 [ Homo sapiens (human) ]

Gene ID: 116309125, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116309125
Gene description
CRISPRi-validated cis-regulatory element chr21.1536
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 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 a high-confidence cis-regulatory element for the COL18A1 (collagen type XVIII alpha 1 chain) gene on chromosome 21 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. [provided by RefSeq, Nov 2019]
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Genomic context

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Location:
21q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (45359997..45360709)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (43725952..43726665)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (46779912..46780624)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46766854-46767770 Neighboring gene uncharacterized LOC105372839 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46773249-46774123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46777975-46778628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46782348-46783073 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:46783494-46784693 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:46785000-46786199 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46786885-46787636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46787637-46788388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46790350-46790860 Neighboring gene uncharacterized LOC124905041 Neighboring gene MT-CO1 pseudogene 3

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

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)

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_067094.1 

    Range
    101..813
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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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    45359997..45360709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    43725952..43726665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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