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LOC125078101 Sharpr-MPRA regulatory region 12240 [ Homo sapiens (human) ]

Gene ID: 125078101, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125078101
Gene description
Sharpr-MPRA regulatory region 12240
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 5:Enh, candidate strong enhancer, 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 (63971390..63971684)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (61778550..61778844)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64171093-64171988 Neighboring gene microRNA 422a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9543 Neighboring gene Sharpr-MPRA regulatory region 4498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64186155-64186656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9546 Neighboring gene uncharacterized LOC101928988 Neighboring gene death associated protein kinase 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:64264631-64265378 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64277639-64278140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64290279-64290780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9548 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:64318331-64318496 Neighboring gene NANOG hESC enhancer GRCh37_chr15:64330918-64331419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:64342658-64343204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9552 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:64385112-64385674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9554 Neighboring gene cytosolic iron-sulfur assembly component 2A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9556 Neighboring gene Sharpr-MPRA regulatory region 7733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9557 Neighboring gene sorting nexin 1

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_080237.1 

    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
    63971390..63971684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    61778550..61778844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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