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LOC116276454 CRISPRi-validated cis-regulatory element chr17.641 [ Homo sapiens (human) ]

Gene ID: 116276454, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116276454
Gene description
CRISPRi-validated cis-regulatory element chr17.641
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 high-confidence cis-regulatory element for the SAT2 (spermidine/spermine N1-acetyltransferase family member 2) 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:
17p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8304515..8304903)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8210750..8211138)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8207833..8208221)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CST telomere replication complex component 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11691 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8152035-8152791 Neighboring gene phosphoribosylformylglycinamidine synthase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8187618-8188118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8188119-8188619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11694 Neighboring gene solute carrier family 25 member 35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11697 Neighboring gene RAN guanine nucleotide release factor Neighboring gene uncharacterized LOC124903915 Neighboring gene uncharacterized LOC124903914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8213553-8214053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8216427-8216928 Neighboring gene Rho guanine nucleotide exchange factor 15 Neighboring gene small nucleolar RNA SNORA69

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_067005.1 

    Range
    101..489
    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
    8304515..8304903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    8210750..8211138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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