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LOC121847988 Sharpr-MPRA regulatory region 10980 [ Homo sapiens (human) ]

Gene ID: 121847988, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121847988
Gene description
Sharpr-MPRA regulatory region 10980
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). This region also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 16:ElonW, transcriptional elongation, weaker H3K36me3). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
16q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (53183437..53183731)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (58981230..58981524)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (53217349..53217643)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene MTCH2 pseudogene 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:53078114-53078979 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:53089197-53089728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10831 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:53094537-53094763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10834 Neighboring gene CHD9 neighbor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10836 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:53119716-53120520 Neighboring gene chromodomain helicase DNA binding protein 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:53125251-53125936 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:53132870-53134069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10841 Neighboring gene MPRA-validated peak2596 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7495 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:53241747-53242336 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:53242337-53242924 Neighboring gene thyroid hormone receptor interactor 13 pseudogene Neighboring gene thyroid hormone receptor interactor 13 pseudogene Neighboring gene small nucleolar RNA U13

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_076008.1 

    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    53183437..53183731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    58981230..58981524
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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