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LOC115804246 CRISPRi-validated cis-regulatory element chr1.11646 [ Homo sapiens (human) ]

Gene ID: 115804246, updated on 10-Oct-2023

Summary

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Gene symbol
LOC115804246
Gene description
CRISPRi-validated cis-regulatory element chr1.11646
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 RPS6KC1 (ribosomal protein S6 kinase C1) gene on chromosome 1 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. [provided by RefSeq, Sep 2019]
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Genomic context

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Location:
1q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (213045207..213046165)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (212288296..212289254)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (213218549..213219507)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213131647-213132304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213132964-213133621 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:213133682-213134182 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213141040-213141685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2524 Neighboring gene Sharpr-MPRA regulatory region 1741 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2526 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213188046-213188634 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213188635-213189222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1809 Neighboring gene vasohibin 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:213231113-213231272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2528 Neighboring gene angel homolog 2 Neighboring gene ribosomal protein S6 kinase C1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:213325631-213326306 Neighboring gene NANOG hESC enhancer GRCh37_chr1:213349583-213350260 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:213393895-213394085 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:213404976-213405900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213454938-213455452 Neighboring gene VISTA enhancer hs1324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213545088-213545614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:213545615-213546139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213573111-213573646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:213572574-213573110 Neighboring gene MPRA-validated peak692 silencer Neighboring gene VISTA enhancer hs204 Neighboring gene ribosomal protein L31 pseudogene 13 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:213680906-213681904 Neighboring gene NANOG hESC enhancer GRCh37_chr1:213685550-213686112 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_3904 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:213843687-213844216 Neighboring gene PROX1 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 538

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_066129.1 

    Range
    101..1059
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    213045207..213046165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    212288296..212289254
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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