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LOC116276461 CRISPRi-validated cis-regulatory element chr17.2443 [ Homo sapiens (human) ]

Gene ID: 116276461, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116276461
Gene description
CRISPRi-validated cis-regulatory element chr17.2443
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 IGFBP4 (insulin like growth factor binding protein 4) gene on chromosome 17 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 HepG2 liver carcinoma cells. [provided by RefSeq, Jun 2023]
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Genomic context

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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40536090..40536964)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41400460..41401334)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38692342..38693216)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371773 Neighboring gene Sharpr-MPRA regulatory region 2600 Neighboring gene uncharacterized LOC107985090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38716282-38716799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38720363-38721279 Neighboring gene C-C motif chemokine receptor 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12155 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:38738644-38738789 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:38744874-38746073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12157 Neighboring gene Sharpr-MPRA regulatory region 2180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12162 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

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_chr17:38692756-38692939

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_067012.1 

    Range
    101..975
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    40536090..40536964
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    41400460..41401334
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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