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LOC121530580 Sharpr-MPRA regulatory region 3998 [ Homo sapiens (human) ]

Gene ID: 121530580, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121530580
Gene description
Sharpr-MPRA regulatory region 3998
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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 human embryonic stem cells, where it is marked by the H3K27ac histone modification. Another subregion was validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase matched - State 1:Tss, active promoter, TSS/CpG island region). The same subregion also displayed repressive activity by Sharpr-MPRA in HepG2 liver carcinoma cells (group: HepG2 Repressive DNase unmatched - State 1:Tss). 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. [provided by RefSeq, May 2023]
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Genomic context

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Location:
15q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (48331464..48332206)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (46139725..46140467)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (48624109..48624403)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC128966560 Neighboring gene solute carrier family 12 member 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48543423-48544622 Neighboring gene MPRA-validated peak2328 silencer Neighboring gene uncharacterized LOC124903486 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:48621665-48621855 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:48623134-48623660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6416 Neighboring gene DUT antisense RNA 1 Neighboring gene deoxyuridine triphosphatase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:48707937-48708437 Neighboring gene fibrillin 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765 Neighboring gene Sharpr-MPRA regulatory region 3576 Neighboring gene Sharpr-MPRA regulatory region 9539 Neighboring gene uncharacterized LOC124903488 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48821930-48823129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:48937944-48938468 Neighboring gene FBN1 divergent transcript

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. 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
  2. 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
  3. 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 6415
  • H3K27ac hESC enhancer GRCh37_chr15:48623661-48624185

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_074778.2 

    Range
    101..843
    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    48331464..48332206
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    46139725..46140467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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