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LOC116183091 CRISPRi-validated cis-regulatory element chr7.2946 [ Homo sapiens (human) ]

Gene ID: 116183091, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116183091
Gene description
CRISPRi-validated cis-regulatory element chr7.2946
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. A subregion was validated as a cis-regulatory element for the HSPB1 (heat shock protein family B (small) member 1) gene on chromosome 7 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. Another subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. 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) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (76291396..76292303)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77578869..77579776)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75920713..75921481)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GTF2I repeat domain containing 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75814843-75815508 Neighboring gene Sharpr-MPRA regulatory region 5015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75826515-75827312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18306 Neighboring gene serine/arginine repetitive matrix 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75852108-75852608 Neighboring gene NANOG hESC enhancer GRCh37_chr7:75853947-75854451 Neighboring gene MPRA-validated peak6610 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18307 Neighboring gene uncharacterized LOC124901679 Neighboring gene MPRA-validated peak6611 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr7:75884084-75884282 Neighboring gene Sharpr-MPRA regulatory region 1121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75890756-75891279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75896022-75896767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75919557-75920072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26197 Neighboring gene Sharpr-MPRA regulatory region 11180 Neighboring gene Sharpr-MPRA regulatory region 14050 Neighboring gene heat shock protein family B (small) member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75946434-75947430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75947431-75948427 Neighboring gene fibroblast proliferation associated lncRNA

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. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
  2. 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
  3. An integrated encyclopedia of DNA elements in the human genome. ENCODE Project Consortium. Nature, 2012 Sep 6. PMID 22955616, Free PMC Article
  4. The accessible chromatin landscape of the human genome. Thurman RE, et al. Nature, 2012 Sep 6. PMID 22955617, Free PMC Article
  5. 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

See all (6) citations in PubMed

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 26196
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75921105-75921620

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_066819.2 

    Range
    101..1008
    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
    76291396..76292303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    77578869..77579776
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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