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LOC116276469 CRISPRi-validated cis-regulatory element chr17.3215 [ Homo sapiens (human) ]

Gene ID: 116276469, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116276469
Gene description
CRISPRi-validated cis-regulatory element chr17.3215
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 MYL4 (myosin light chain 4) gene on chromosome 17 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. [provided by RefSeq, Nov 2019]
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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 (47197770..47198193)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48060118..48060541)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45275136..45275559)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene protein GVQW1-like Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:45213296-45214495 Neighboring gene cell division cycle 27 Neighboring gene ribosomal protein S2 pseudogene 47 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:45266269-45266865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12304 Neighboring gene myosin light chain 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8623 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:45298098-45298754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45298755-45299410 Neighboring gene Sharpr-MPRA regulatory region 4457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12305 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45314666-45315602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45315603-45316539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8624 Neighboring gene RNA, U7 small nuclear 186 pseudogene Neighboring gene integrin subunit beta 3 Neighboring gene Sharpr-MPRA regulatory region 629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45353259-45353806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12306 Neighboring gene uncharacterized LOC107985029

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_067020.1 

    Range
    101..524
    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
    47197770..47198193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    48060118..48060541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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