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LOC116268425 CRISPRi-validated cis-regulatory element chr12.51 [ Homo sapiens (human) ]

Gene ID: 116268425, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116268425
Gene description
CRISPRi-validated cis-regulatory element chr12.51
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 WNK1 (WNK lysine deficient protein kinase 1) gene on chromosome 12 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. An accessible chromatin subregion was used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in K562 cells. [provided by RefSeq, Jun 2023]
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Genomic context

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Location:
12p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (716495..716914)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (712383..712802)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (825661..826080)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ninjurin 2 Neighboring gene RNA, U7 small nuclear 103 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:717809-718326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:718327-718843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:719097-719598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:732135-732879 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:732880-733623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4105 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:754531-755730 Neighboring gene Sharpr-MPRA regulatory region 6322 Neighboring gene NINJ2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:775809-776308 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:780043-780251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5786 Neighboring gene uncharacterized LOC101929432 Neighboring gene long intergenic non-protein coding RNA 2455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5790 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:861758-862476 and GRCh37_chr12:862477-863195 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5789 Neighboring gene RNA, U4atac small nuclear 16, pseudogene Neighboring gene WNK lysine deficient protein kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5791 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:917646-918146 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:918147-918647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5792 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:1023012-1024211 Neighboring gene uncharacterized LOC124902855 Neighboring gene RAD52 homolog, DNA repair protein

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. Systematic identification of silencers in human cells. Pang B, et al. Nat Genet, 2020 Mar. PMID 32094911, 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

  • ReSE screen-validated silencer GRCh37_chr12:825872-826041

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_066940.1 

    Range
    101..520
    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
    716495..716914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    712383..712802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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