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LOC113939922 Sharpr-MPRA regulatory region 5565 [ Homo sapiens (human) ]

Gene ID: 113939922, updated on 17-Sep-2024

Summary

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Gene symbol
LOC113939922
Gene description
Sharpr-MPRA regulatory region 5565
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 20:ReprD, Polycomb repression with Duke DNase/promoter and conservation enriched) and K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jan 2019]
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Genomic context

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See LOC113939922 in Genome Data Viewer
Location:
11p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (43577019..43577313)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (43732385..43732679)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (43598569..43598863)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4-like Neighboring gene hydroxysteroid 17-beta dehydrogenase 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43596905-43597647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43602229-43603028 Neighboring gene microRNA 670 Neighboring gene MIR670 host gene Neighboring gene microRNA 129-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4642 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:43702143-43702708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4645 Neighboring gene ribosomal protein L23a pseudogene 63

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_063708.1 

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    43577019..43577313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    43732385..43732679
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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