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LOC115945183 CRISPRi-validated cis-regulatory element chr2.3134 [ Homo sapiens (human) ]

Gene ID: 115945183, updated on 10-Oct-2023

Summary

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Gene symbol
LOC115945183
Gene description
CRISPRi-validated cis-regulatory element chr2.3134
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 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 ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5) gene on chromosome 2 based on multiplex CRISPR/Cas9-mediated perturbation 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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Location:
2p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85993878..85994391)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85995977..85996490)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (86221001..86221514)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16147 Neighboring gene uncharacterized LOC124906031 Neighboring gene uncharacterized LOC105374843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:86239243-86239743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16150 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:86260844-86261047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11710 Neighboring gene conserved acetylation island sequence 34 enhancer Neighboring gene RNA polymerase I subunit A Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:86272354-86273553 Neighboring gene MPRA-validated peak3776 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:86296595-86297794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:86301664-86302164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:86302165-86302665 Neighboring gene uncharacterized LOC124907852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16154 Neighboring gene pentatricopeptide repeat domain 3 Neighboring gene small nucleolar RNA, C/D box 94

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
  4. 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 16148

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_066564.1 

    Range
    101..614
    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
    85993878..85994391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    85995977..85996490
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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