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LOC116286208 CRISPRi-validated cis-regulatory element chr20.2047 [ Homo sapiens (human) ]

Gene ID: 116286208, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116286208
Gene description
CRISPRi-validated cis-regulatory element chr20.2047
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 SLC13A3 (solute carrier family 13 member 3) 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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See LOC116286208 in Genome Data Viewer
Location:
20q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (47500803..47500875)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (49239011..49239083)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (46129547..46129619)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12979 Neighboring gene RNA, U6 small nuclear 497, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12980 Neighboring gene RNA, U6 small nuclear 563, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:46152763-46153530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46158187-46158687 Neighboring gene nuclear receptor coactivator 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:46190110-46190292 Neighboring gene MPRA-validated peak4234 silencer Neighboring gene ribosomal protein S3A pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:46276897-46277614 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:46277615-46278332 Neighboring gene nuclear receptor coactivator 3 repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46293563-46294548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46294549-46295532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46303203-46304168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46307531-46308031 Neighboring gene sulfatase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:46316712-46317262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:46317263-46317814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:46326206-46326710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46339340-46339840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46339841-46340341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46381087-46381588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46381589-46382088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46386138-46386895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46386896-46387654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46387655-46388411 Neighboring gene NANOG hESC enhancer GRCh37_chr20:46390145-46390683 Neighboring gene Sharpr-MPRA regulatory region 8498 Neighboring gene uncharacterized LOC124904922

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_067087.1 

    Range
    101..173
    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    47500803..47500875
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    49239011..49239083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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