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LOC124855078 Sharpr-MPRA regulatory region 5009 [ Homo sapiens (human) ]

Gene ID: 124855078, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124855078
Gene description
Sharpr-MPRA regulatory region 5009
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 HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 16:ElonW, transcriptional elongation, weaker H3K36me3). [provided by RefSeq, Apr 2022]
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Genomic context

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Location:
13q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (32750331..32750625)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (31967626..31967920)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene NEDD4 binding protein 2 like 2 Neighboring gene N4BPL2 intronic transcript 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:33112107-33112666 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:33112667-33113227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7563 Neighboring gene PDS5B divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr13:33200082-33200597 Neighboring gene PDS5 cohesin associated factor B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5252 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:33288052-33289036 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:33294729-33295322 Neighboring gene MPRA-validated peak2067 silencer Neighboring gene RNY1 pseudogene 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:33395368-33395536 Neighboring gene long intergenic non-protein coding RNA 423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7566

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_079960.1 

    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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    32750331..32750625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    31967626..31967920
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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