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LOC125177320 Sharpr-MPRA regulatory region 1622 [ Homo sapiens (human) ]

Gene ID: 125177320, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125177320
Gene description
Sharpr-MPRA regulatory region 1622
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 14:Gen5', transcription transition, highly expressed genes towards 5' end) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Apr 2022]
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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 (56743777..56744071)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (62539590..62539884)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene developmental pluripotency associated 2 pseudogene 4 Neighboring gene uncharacterized LOC105371287 Neighboring gene NUP93 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7514 Neighboring gene nucleoporin 93 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:56885802-56886009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56901109-56901693 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:56901694-56902278 Neighboring gene microRNA 138-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:56908501-56909437 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56910353-56910852 Neighboring gene solute carrier family 12 member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56926577-56927308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10857 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:56937172-56937352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:56937981-56938489 Neighboring gene microRNA 6863

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_080388.1 

    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
    56743777..56744071
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    62539590..62539884
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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