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LOC125138289 Sharpr-MPRA regulatory region 4992 [ Homo sapiens (human) ]

Gene ID: 125138289, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125138289
Gene description
Sharpr-MPRA regulatory region 4992
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 K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [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 (74778628..74778922)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (72648535..72648829)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene CYP1A1 5' regulatory region Neighboring gene cytochrome P450 family 1 subfamily A member 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:75021499-75022227 Neighboring gene CYP1A2 5' regulatory region Neighboring gene cytochrome P450 family 1 subfamily A member 2 Neighboring gene dioxin-responsive -38 kb CYP1A2 enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75059675-75060452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75063617-75064332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75064333-75065046 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75066003-75066580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75070096-75070626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9791 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75075123-75075698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9796 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:75080141-75080318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75084649-75085478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75085479-75086307 Neighboring gene C-terminal Src kinase Neighboring gene microRNA 4513 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:75090696-75091895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75092171-75093022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75093023-75093872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75112197-75113010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75113011-75113824 Neighboring gene lectin, mannose binding 1 like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:75114639-75115451

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_080260.1 

    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
    74778628..74778922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    72648535..72648829
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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