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LOC116276481 CRISPRi-validated cis-regulatory element chr17.5435 [ Homo sapiens (human) ]

Gene ID: 116276481, updated on 10-Oct-2023

Summary

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Gene symbol
LOC116276481
Gene description
CRISPRi-validated cis-regulatory element chr17.5435
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer, 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 high-confidence cis-regulatory element for the SOCS3 (suppressor of cytokine signaling 3) gene on chromosome 17 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 H3K4me1 histone modification. This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress 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. Another subregion containing a Neanderthal adaptively introgressed genetic variant was also validated as an enhancer by MPRAs in K562 cells, with activity observed for both the introgressed and non-introgressed 17:76255242 variant alleles. [provided by RefSeq, Sep 2023]
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Genomic context

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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78258515..78259530)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79152624..79153640)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76254596..76255184)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12882 Neighboring gene MPRA-validated peak3016 silencer Neighboring gene uncharacterized LOC105371910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76246144-76246789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12883 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76249484-76250202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76250203-76250920 Neighboring gene CRISPRi-validated cis-regulatory element chr17.5434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12886 Neighboring gene threonine aldolase 1, pseudogene Neighboring gene long intergenic non-protein coding RNA 1993 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76263321-76264044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76264045-76264770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76266221-76266945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76268313-76269002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76273439-76274272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76274273-76275106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76283739-76284240 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:76287812-76288081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76297857-76298375 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:76304459-76304681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9056 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76311214-76311972 Neighboring gene uncharacterized LOC105371912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12890 Neighboring gene Sharpr-MPRA regulatory region 775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76318420-76318963 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76320051-76320592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76320593-76321136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76321137-76321678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9059 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9060 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76338363-76338868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76340895-76341399

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
  5. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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 silent region 9055
  • H3K4me1 hESC enhancer GRCh37_chr17:76254747-76255611
  • Neanderthal introgressed variant-containing enhancer experimental_47472

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_067032.2 

    Range
    101..1116
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    78258515..78259530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    79152624..79153640
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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