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LOC115801439 CRISPRi-validated cis-regulatory element chr1.7885 [ Homo sapiens (human) ]

Gene ID: 115801439, updated on 10-Oct-2023

Summary

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Gene symbol
LOC115801439
Gene description
CRISPRi-validated cis-regulatory element chr1.7885
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 MAGI3 (membrane associated guanylate kinase, WW and PDZ domain containing 3) gene on chromosome 1 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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See LOC115801439 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (113140526..113141426)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (113152460..113153360)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (113683148..113684048)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene LRIG2 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:113568308-113569055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:113569056-113569802 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:113569803-113570550 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:113570551-113571296 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:113584341-113585260 Neighboring gene Sharpr-MPRA regulatory region 8666 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:113586182-113587101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1524 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:113615599-113616132 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:113616133-113616664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1527 Neighboring gene leucine rich repeats and immunoglobulin like domains 2 Neighboring gene ring finger protein, LIM domain interacting pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:113701114-113701959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1530 Neighboring gene ribosomal protein S19 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:113741139-113741644 Neighboring gene uncharacterized LOC643441 Neighboring gene ribosomal protein S15 pseudogene 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. 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 1528

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_066097.1 

    Range
    101..1001
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    113140526..113141426
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    113152460..113153360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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