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LOC116286199 CRISPRi-validated cis-regulatory element chr20.80 [ Homo sapiens (human) ]

Gene ID: 116286199, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116286199
Gene description
CRISPRi-validated cis-regulatory element chr20.80
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 cis-regulatory element for the FAM110A (family with sequence similarity 110 member A) 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:
20p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (828933..829496)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (876044..876607)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (809576..810139)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:642152-642765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:642766-643378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:653674-654187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12583 Neighboring gene Sharpr-MPRA regulatory region 5118 Neighboring gene scratch family transcriptional repressor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:669184-669764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:669765-670343 Neighboring gene MPRA-validated peak4111 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:700539-701043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:714587-715087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:749319-749818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:756400-757102 Neighboring gene solute carrier family 52 member 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:771562-772313 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:798226-798402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:803889-804420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17445 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12585 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:822609-823591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:825145-825958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17447 Neighboring gene family with sequence similarity 110 member A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:836793-837779 Neighboring gene ribosomal protein S10 pseudogene 5 Neighboring gene uncharacterized LOC124904854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:853162-853662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:853663-854163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17448 Neighboring gene angiopoietin 4

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_067078.1 

    Range
    101..664
    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
    828933..829496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    876044..876607
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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