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LOC116268428 CRISPRi-validated cis-regulatory element chr12.325 [ Homo sapiens (human) ]

Gene ID: 116268428, updated on 4-Mar-2025

Summary

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Gene symbol
LOC116268428
Gene description
CRISPRi-validated cis-regulatory element chr12.325
Gene type
biological region
Feature type(s)
regulatory: silencer, 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 CHD4 (chromodomain helicase DNA binding protein 4) gene on chromosome 12 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC116268428 in Genome Data Viewer
Location:
12p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6612781..6614523)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6623134..6624876)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6721947..6723689)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene chromodomain helicase DNA binding protein 4 Neighboring gene small Cajal body-specific RNA 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6705357-6705858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6705859-6706358 Neighboring gene uncharacterized LOC124902867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5869 Neighboring gene uncharacterized LOC105369631 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6729027-6729548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6729549-6730069 Neighboring gene lysophosphatidic acid receptor 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5872 Neighboring gene acrosin binding protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6756019-6756532

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
  4. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, 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)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid silent region 4175

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_066943.1 

    Range
    101..1843
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    6612781..6614523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    6623134..6624876
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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