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LOC116268450 CRISPRi-validated cis-regulatory element chr12.3641 [ Homo sapiens (human) ]

Gene ID: 116268450, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116268450
Gene description
CRISPRi-validated cis-regulatory element chr12.3641
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 PPTC7 (PTC7 protein phosphatase homolog) gene on chromosome 12 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:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (110807619..110807882)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (110785346..110785609)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111245423..111245686)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7019 Neighboring gene hydrogen voltage gated channel 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:111124990-111125818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4861 Neighboring gene protein phosphatase 1 catalytic subunit gamma Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111180421-111180929 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:111181691-111182275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7027 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:111218408-111218569 Neighboring gene NANOG hESC enhancer GRCh37_chr12:111246997-111247498 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:111251419-111251918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7028 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:111290753-111291952 Neighboring gene ribosomal protein L29 pseudogene 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:111298099-111298599 Neighboring gene coiled-coil domain containing 63

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_066965.1 

    Range
    101..364
    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    110807619..110807882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    110785346..110785609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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