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LOC124500683 Sharpr-MPRA regulatory region 1844 [ Homo sapiens (human) ]

Gene ID: 124500683, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124500683
Gene description
Sharpr-MPRA regulatory region 1844
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, Mar 2022]
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Genomic context

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Location:
11q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (71236983..71237277)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (71163372..71163666)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene SH3 and multiple ankyrin repeat domains 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:70732137-70732636 Neighboring gene SHANK2 antisense RNA 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:70737866-70738791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:70751855-70752356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:70752357-70752856 Neighboring gene microRNA 3664 Neighboring gene MPRA-validated peak1330 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:70819961-70820462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:70820463-70820962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:70850430-70851309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:70851310-70852188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:70909445-70910320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:70910321-70911195 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:70916186-70916782 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:70916783-70917377 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:70925881-70926462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:70955112-70955856 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:70957345-70958088 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:70956601-70957344 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:70955857-70956600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:70979141-70979640 Neighboring gene uncharacterized LOC124902706 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:71009949-71011148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:71012233-71012890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71054609-71055108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3706 Neighboring gene actin, aortic smooth muscle-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71100061-71100562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71100563-71101062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71107588-71108289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71110671-71111514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71113580-71114080 Neighboring gene actin epsilon 1, pseudogene

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_079340.1 

    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    71236983..71237277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    71163372..71163666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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