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LOC116286209 CRISPRi-validated cis-regulatory element chr20.2420 [ Homo sapiens (human) ]

Gene ID: 116286209, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116286209
Gene description
CRISPRi-validated cis-regulatory element chr20.2420
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 PARD6B (par-6 family cell polarity regulator beta) gene on chromosome 20 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:
20q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (50711196..50711384)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (52481498..52481686)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (49327733..49327921)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RIPOR family member 3 Neighboring gene RIPOR3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49282931-49283431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49282430-49282930 Neighboring gene uncharacterized LOC105372659 Neighboring gene VISTA enhancer hs1860 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:49313764-49313925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49320243-49320744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49320745-49321244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13023 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:49345068-49346267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13024 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13025 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:49353859-49354534 Neighboring gene par-6 family cell polarity regulator beta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49406827-49407512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18099 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13027 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49436893-49437394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18105 Neighboring gene breast carcinoma amplified sequence 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:49450347-49450846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:49453840-49454668 Neighboring gene TMSB4X pseudogene 6

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_067088.1 

    Range
    101..289
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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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    50711196..50711384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    52481498..52481686
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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