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LOC113960611 Sharpr-MPRA regulatory region 3425 [ Homo sapiens (human) ]

Gene ID: 113960611, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113960611
Gene description
Sharpr-MPRA regulatory region 3425
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 DNase matched - State 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 10:DNaseD). [provided by RefSeq, Jan 2019]
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Genomic context

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Location:
20q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (46057330..46057624)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47793345..47793639)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44685969..44686263)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44603922-44604458 Neighboring gene ferritin light chain pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44624055-44624562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44632651-44633302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44633303-44633954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44640983-44641493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12969 Neighboring gene SLC12A5 and MMP9 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12971 Neighboring gene matrix metallopeptidase 9 Neighboring gene solute carrier family 12 member 5 Neighboring gene Sharpr-MPRA regulatory region 13245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17957 Neighboring gene nuclear receptor coactivator 5 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:44717073-44717887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44717888-44718701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17960 Neighboring gene ribosomal protein L13 pseudogene 2

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

See Variation Viewer (GRCh37.p13)

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_063774.1 

    Range
    101..395
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    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
    46057330..46057624
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    47793345..47793639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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