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LOC116183089 CRISPRi-validated cis-regulatory element chr7.1855 [ Homo sapiens (human) ]

Gene ID: 116183089, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116183089
Gene description
CRISPRi-validated cis-regulatory element chr7.1855
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 BLVRA (biliverdin reductase A) gene on chromosome 7, and with lower confidence for the COA1 (cytochrome c oxidase assembly factor 1 homolog) gene, 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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Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (43756596..43757363)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (43914866..43915633)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (43796195..43796962)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:43593671-43594870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18123 Neighboring gene lncRNA upregulator of antiviral response interferon signaling Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:43616728-43617927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25911 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99082 Neighboring gene Sharpr-MPRA regulatory region 11578 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:43686409-43687270 Neighboring gene Sharpr-MPRA regulatory region 11574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:43688133-43688994 Neighboring gene serine/threonine kinase 17a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:43691438-43692181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18125 Neighboring gene NFE2L2 motif-containing MPRA enhancer 272 Neighboring gene cytochrome c oxidase assembly factor 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:43768408-43769137 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:43769138-43769866 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:43789145-43789664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:43789665-43790184 Neighboring gene uncharacterized LOC107986727 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25918 Neighboring gene Sharpr-MPRA regulatory region 4653 Neighboring gene biliverdin reductase A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18128 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99190 Neighboring gene URGCP-MRPS24 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18129 Neighboring gene mitochondrial ribosomal protein S24

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. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

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_066817.1 

    Range
    101..868
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    43756596..43757363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    43914866..43915633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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