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LOC117038795 CRISPRi-FlowFISH-validated PRDX2 regulatory element 4 [ Homo sapiens (human) ]

Gene ID: 117038795, updated on 12-Sep-2024

Summary

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Gene symbol
LOC117038795
Gene description
CRISPRi-FlowFISH-validated PRDX2 regulatory element 4
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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. It was validated as a positively-acting cis-regulatory element for the PRDX2 (peroxiredoxin 2) gene based on CRISPR/Cas9-mediated perturbation (CRISPRi-FlowFISH method) in K562 erythroleukemia cells. This locus also includes two accessible chromatin subregions that were validated as enhancers based on their ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC117038795 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 (12805831..12806863)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12930333..12931364)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12916645..12917677)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14083 Neighboring gene CRISPRi-FlowFISH-validated RNASEH2A regulatory element Neighboring gene peroxiredoxin 2 Neighboring gene thrombospondin type 1 domain containing 8 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 CRISPRi-FlowFISH-validated KLF1 and PRDX2 regulatory element Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12963003-12963503 Neighboring gene microRNA 6794

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

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 active region 14084
  • ATAC-STARR-seq lymphoblastoid active region 14085

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_068122.1 

    Range
    101..1133
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    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
    12805831..12806863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    12930333..12931364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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