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LOC119407411 CRISPRi-validated PIM2 and PQBP1 regulatory elements GRCh37_chrX:48797400-48798550 and GRCh37_chrX:48797725-48798225 [ Homo sapiens (human) ]

Gene ID: 119407411, updated on 10-Oct-2023

Summary

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Gene symbol
LOC119407411
Gene description
CRISPRi-validated PIM2 and PQBP1 regulatory elements GRCh37_chrX:48797400-48798550 and GRCh37_chrX:48797725-48798225
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 PIM2 (Pim-2 proto-oncogene, serine/threonine kinase) gene by CRISPR/Cas9-mediated perturbation (CRISPRi-FlowFISH method) in K562 erythroleukemia cells. A subregion was also validated as a positively-acting cis-regulatory element for PQBP1 (polyglutamine binding protein 1) by CRISPRi-FlowFISH in K562 cells. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its 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 LOC119407411 in Genome Data Viewer
Location:
Xp
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48940129..48941279)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48350599..48351749)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48797725..48798225)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 35 member A2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29621 Neighboring gene Pim-2 proto-oncogene, serine/threonine kinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:48778351-48779235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:48780780-48781287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:48781288-48781794 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:48784732-48785370 Neighboring gene OTU deubiquitinase 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:48794231-48795004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29623 Neighboring gene CRISPRi-validated PIM2 and PQBP1 regulatory elements GRCh37_chrX:48798640-48799830 and GRCh37_chrX:48798965-48799505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20829 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29625 Neighboring gene Sharpr-MPRA regulatory region 12141 Neighboring gene RNA, U6 small nuclear 722, pseudogene Neighboring gene potassium voltage-gated channel subfamily D member 1

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. Genome-wide enhancer maps link risk variants to disease genes. Nasser J, et al. Nature, 2021 May. PMID 33828297, Free PMC Article
  2. 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
  3. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. 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 29624
  • CRISPRi-FlowFISH-validated PIM2 regulatory element GRCh37_chrX:48797400-48798550
  • CRISPRi-FlowFISH-validated PQBP1 regulatory element GRCh37_chrX:48797725-48798225

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_070981.2 

    Range
    101..1251
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    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    48940129..48941279
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791820.1 Reference GRCh38.p14 PATCHES

    Range
    98964..100114
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    48350599..48351749
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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