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LOC125384590 Sharpr-MPRA regulatory region 956 [ Homo sapiens (human) ]

Gene ID: 125384590, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125384590
Gene description
Sharpr-MPRA regulatory region 956
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 both HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 15:Elon, transcription elongation, stronger H3K36me3, more exonic) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, May 2022]
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Genomic context

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Location:
20p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (20396245..20396539)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (20454776..20455070)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 61 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12710 Neighboring gene RNA, 7SL, cytoplasmic 690, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:20347841-20348611 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:20373434-20374633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20375428-20375972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20375973-20376516 Neighboring gene NANOG hESC enhancer GRCh37_chr20:20391221-20391855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17608 Neighboring gene Ral GTPase activating protein catalytic subunit alpha 2 Neighboring gene INSM transcriptional repressor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17611 Neighboring gene VISTA enhancer hs688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12711 Neighboring gene eukaryotic translation initiation factor 4E family member 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12712 Neighboring gene Sharpr-MPRA regulatory region 2040 Neighboring gene LLPH pseudogene 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_080913.1 

    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    20396245..20396539
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    20454776..20455070
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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