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LOC116216146 Sharpr-MPRA regulatory region 14387 [ Homo sapiens (human) ]

Gene ID: 116216146, updated on 12-Sep-2024

Summary

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Gene symbol
LOC116216146
Gene description
Sharpr-MPRA regulatory region 14387
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 sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. The major subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in naive and primed human embryonic stem cells, where it is marked by the H3K27ac histone modification. Another subregion was also validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). The same subregion also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin). A subregion was also validated as a cis-regulatory element for the ATG2A (autophagy related 2A) gene on chromosome 11 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) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC116216146 in Genome Data Viewer
Location:
11q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65493480..65494152)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65486784..65487456)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65260951..65261623)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NEAT1-MALAT1 intergenic CAGE-defined high expression enhancer Neighboring gene CRISPRi-validated cis-regulatory element chr11.3247 Neighboring gene enhancer lncRNA neighbor of NEAT1 and MALAT1 Neighboring gene NEAT1-MALAT1 intergenic CAGE-defined low expression enhancer Neighboring gene VISTA enhancer hs1759 Neighboring gene long intergenic non-protein coding RNA 2736 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65259133-65259634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65260440-65260950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4977 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:65264508-65265707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4983 Neighboring gene metastasis associated lung adenocarcinoma transcript 1 Neighboring gene TALAM1 transcript, MALAT1 antisense RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4984 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:65274865-65275546 Neighboring gene MALAT1-associated small cytoplasmic RNA Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 19

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article
  5. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. 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 4976
  • CRISPRi-validated cis-regulatory element chr11.3251
  • H3K27ac hESC enhancer GRCh37_chr11:65260951-65261462

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_066911.3 

    Range
    101..773
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    65493480..65494152
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    65486784..65487456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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