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LOC116183093 CRISPRi-validated cis-regulatory element chr7.3510 [ Homo sapiens (human) ]

Gene ID: 116183093, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116183093
Gene description
CRISPRi-validated cis-regulatory element chr7.3510
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. The major subregion was validated as a cis-regulatory element for the PPP1R35 (protein phosphatase 1 regulatory subunit 35) gene on chromosome 7 based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. Two subregions marked by the H3K27ac and H3K4me1 histone modifications were also shown to be active enhancers by ChIP-STARR-seq in primed human embryonic stem 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:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100443833..100445272)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101683911..101685350)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100041941..100042794)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26365 Neighboring gene methylphosphate capping enzyme Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18433 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100034207-100034710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100034711-100035213 Neighboring gene PPP1R35 antisense RNA 1 Neighboring gene protein phosphatase 1 regulatory subunit 35 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100044099-100044599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18434 Neighboring gene TSC22D4-C7orf61 readthrough Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100054725-100054887 Neighboring gene sperm acrosome developmental regulator Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18436 Neighboring gene TSC22 domain family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100069322-100070108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100070109-100070893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26368

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
  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 26367
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100041456-100042140
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100042141-100042825

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_066821.3 

    Range
    101..1540
    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
    100443833..100445272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    101683911..101685350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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