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LOC117125587 CRISPRi-FlowFISH-validated KLF1 and PRDX2 regulatory element [ Homo sapiens (human) ]

Gene ID: 117125587, updated on 12-Sep-2024

Summary

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Gene symbol
LOC117125587
Gene description
CRISPRi-FlowFISH-validated KLF1 and PRDX2 regulatory element
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 was predicted to be an enhancer based on an activity-by-contact (ABC) model that predicts enhancer-gene connections, where the putative enhancer strength is measured by DNase I hypersensitivity and H3K27 acetylation, and the contact frequency by Hi-C. A subregion was validated as a positively-acting cis-regulatory element for the KLF1 (Kruppel like factor 1) gene, and as a negatively-acting element for PRDX2 (peroxiredoxin 2), based on CRISPR/Cas9-mediated perturbation (CRISPRi-FlowFISH method) in K562 erythroleukemia cells. Another subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in primed human embryonic stem cells, where it is marked by the H3K4me1 histone modification. This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC117125587 in Genome Data Viewer
Location:
19p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12847511..12848556)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12972032..12973077)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12958325..12959370)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 4 Neighboring gene ribonuclease H2 subunit A Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 5 Neighboring gene uncharacterized LOC105372281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12940863-12941364 Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 6 Neighboring gene retbindin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12945351-12945880 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:12948942-12949125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14087 Neighboring gene microtubule associated serine/threonine kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12963003-12963503 Neighboring gene microRNA 6794 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:12975591-12976379 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:12976380-12977167 Neighboring gene Sharpr-MPRA regulatory region 6054 Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element 1 Neighboring gene deoxyribonuclease 2, lysosomal

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. Activity-by-contact model of enhancer-promoter regulation from thousands of CRISPR perturbations. Fulco CP, et al. Nat Genet, 2019 Dec. PMID 31784727, Free PMC Article
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, Free PMC Article
  3. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

  • ATAC-STARR-seq lymphoblastoid silent region 10179
  • H3K4me1 hESC enhancer GRCh37_chr19:12958547-12959370

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_068125.2 

    Range
    101..1146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    12847511..12848556
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    12972032..12973077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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