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LOC116268426 CRISPRi-validated cis-regulatory element chr12.200 [ Homo sapiens (human) ]

Gene ID: 116268426, updated on 27-Aug-2024

Summary

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Gene symbol
LOC116268426
Gene description
CRISPRi-validated cis-regulatory element chr12.200
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 CCND2 (cyclin D2) 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 an enhancer based on its ability to activate 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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Location:
12p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4153422..4154015)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4160164..4160757)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4262588..4263181)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900317 Neighboring gene Sharpr-MPRA regulatory region 7545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5818 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4226148-4227142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5819 Neighboring gene ribosomal protein L18 pseudogene 9 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4243897-4244502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4256026-4256526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4146 Neighboring gene uncharacterized LOC105369612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4311299-4312200 Neighboring gene Sharpr-MPRA regulatory region 8601 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4314426-4315336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5823 Neighboring gene CCND2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4149 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:4381043-4381234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4152 Neighboring gene cyclin D2

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 active region 5821

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_066941.1 

    Range
    101..694
    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
    4153422..4154015
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    4160164..4160757
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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