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LOC125078077 Sharpr-MPRA regulatory region 4235 [ Homo sapiens (human) ]

Gene ID: 125078077, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125078077
Gene description
Sharpr-MPRA regulatory region 4235
Gene type
biological region
Feature type(s)
regulatory: 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. It was validated as a functional repressive element by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 3:PromF, promoter flanking). [provided by RefSeq, Apr 2022]
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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 (48855552..48855846)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (46663759..46664053)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene oxidation resistance 1 pseudogene Neighboring gene centrosomal protein 152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9377 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:49090426-49090965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:49099693-49100193 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:49102416-49102977 Neighboring gene uncharacterized LOC124903487 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:49103270-49103460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9378 Neighboring gene MPRA-validated peak2329 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr15:49136024-49136191 Neighboring gene SHC adaptor protein 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:49166520-49166841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9380 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:49180996-49181177 Neighboring gene EP300 interacting inhibitor of differentiation 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:49204976-49206175 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:49237854-49239053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:49254590-49255092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:49255093-49255594 Neighboring gene keratin 8 pseudogene 24

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

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

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_080213.1 

    Range
    101..395
    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
    48855552..48855846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    46663759..46664053
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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