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LOC121587547 Sharpr-MPRA regulatory region 10529 [ Homo sapiens (human) ]

Gene ID: 121587547, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121587547
Gene description
Sharpr-MPRA regulatory region 10529
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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Jun 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 (57624377..57624671)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (63419581..63419875)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (57658289..57658583)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371291 Neighboring gene uncharacterized LOC107984889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10904 Neighboring gene high mobility group box 3 pseudogene 32 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57653277-57653781 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57653782-57654285 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57654286-57654790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57656181-57657035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57661723-57662378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57662379-57663034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57665003-57665658 Neighboring gene adhesion G protein-coupled receptor G1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:57685116-57685516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57692922-57693920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57693921-57694919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57710685-57711625 Neighboring gene adhesion G protein-coupled receptor G3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10909 Neighboring gene dynein regulatory complex subunit 7 Neighboring gene MTCH2 pseudogene 3

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_074834.1 

    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
    57624377..57624671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    63419581..63419875
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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