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LOC116158484 CRISPRi-validated cis-regulatory element chr4.319 [ Homo sapiens (human) ]

Gene ID: 116158484, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116158484
Gene description
CRISPRi-validated cis-regulatory element chr4.319
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 cis-regulatory element for the LETM1 (leucine zipper and EF-hand containing transmembrane protein 1) gene on chromosome 4 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. [provided by RefSeq, Oct 2019]
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Genomic context

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Location:
4p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (2266870..2267922)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (2265642..2266694)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (2268597..2269649)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene DNA polymerase nu Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:2243031-2243532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15158 Neighboring gene cytochrome c oxidase subunit 6B1 pseudogene 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:2258841-2258999 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2262363-2262955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15160 Neighboring gene HAUS augmin like complex subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15161 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2264187-2264848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2264849-2265508 Neighboring gene microRNA 4800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2282283-2282784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2282785-2283284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2287193-2287694 Neighboring gene MAX dimerization protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2287695-2288194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2290045-2290567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15163 Neighboring gene zinc finger FYVE-type containing 28 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15164 Neighboring gene Sharpr-MPRA regulatory region 1470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2323631-2324130 Neighboring gene RNA, 7SL, cytoplasmic 589, pseudogene Neighboring gene Spi-C transcription factor pseudogene 5

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_066626.1 

    Range
    101..1153
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    2266870..2267922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    2265642..2266694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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