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LOC115945152 CRISPRi-validated cis-regulatory element chr2.1528 [ Homo sapiens (human) ]

Gene ID: 115945152, updated on 10-Oct-2023

Summary

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Gene symbol
LOC115945152
Gene description
CRISPRi-validated cis-regulatory element chr2.1528
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 GALM (galactose mutarotase) gene on chromosome 2 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. [provided by RefSeq, Oct 2019]
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Genomic context

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See LOC115945152 in Genome Data Viewer
Location:
2p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (38654143..38654816)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (38661041..38661714)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (38881285..38881958)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2613 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11373 Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:38763105-38763715 Neighboring gene Sharpr-MPRA regulatory region 10245 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:38779519-38779723 Neighboring gene heterogeneous nuclear ribonucleoprotein L like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11378 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:38893008-38893520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:38893521-38894033 Neighboring gene uncharacterized LOC124905993 Neighboring gene Sharpr-MPRA regulatory region 4561 Neighboring gene galactose mutarotase Neighboring gene MPRA-validated peak3666 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15609 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:38967980-38968152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11380 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11381 Neighboring gene serine and arginine rich splicing factor 7

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_066552.1 

    Range
    101..774
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    38654143..38654816
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    38661041..38661714
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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