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LOC112042783 Sharpr-MPRA regulatory region 564 [ Homo sapiens (human) ]

Gene ID: 112042783, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112042783
Gene description
Sharpr-MPRA regulatory region 564
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 enhancer 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 Activating non-DNase unmatched - State 21:Repr, strong Polycomb repression). [provided by RefSeq, Feb 2018]
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Genomic context

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See LOC112042783 in Genome Data Viewer
Location:
11q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (120255340..120255634)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (120278132..120278426)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (120126049..120126343)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120067578-120068078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120068079-120068579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120080493-120081034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120088347-120088930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120091419-120091918 Neighboring gene out at first homolog Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120105831-120106053 Neighboring gene POU class 2 homeobox 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:120119877-120120516 Neighboring gene uncharacterized LOC649133 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120135803-120135974 Neighboring gene uncharacterized LOC105369531 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120146894-120147083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120176405-120176922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120177487-120177989 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_19560 and experimental_19565 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120184592 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120193421-120193580 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120195689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3990 Neighboring gene TLC domain containing 5

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_056432.1 

    Range
    101..395
    Download
    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
    120255340..120255634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    120278132..120278426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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