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LOC124629332 Sharpr-MPRA regulatory region 8728 [ Homo sapiens (human) ]

Gene ID: 124629332, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124629332
Gene description
Sharpr-MPRA regulatory region 8728
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 15:Elon, transcription elongation, stronger H3K36me3, more exonic). [provided by RefSeq, Mar 2022]
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Genomic context

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See LOC124629332 in Genome Data Viewer
Location:
12p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (23640235..23640529)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (23512034..23512328)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2955 Neighboring gene MPRA-validated peak1602 silencer Neighboring gene ribosomal protein S27 pseudogene 22 Neighboring gene MPRA-validated peak1603 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:23178329-23179078 Neighboring gene VISTA enhancer hs1603 Neighboring gene MPRA-validated peak1605 silencer Neighboring gene Sharpr-MPRA regulatory region 9485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:23627288-23627862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:23627863-23628437 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:23662216-23662400 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26611 Neighboring gene NANOG hESC enhancer GRCh37_chr12:23695058-23695588 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:23738604-23739190 Neighboring gene uncharacterized LOC105369697 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:23793632-23794207 Neighboring gene SRY-box transcription factor 5 Neighboring gene NANOG hESC enhancer GRCh37_chr12:23909365-23909887 Neighboring gene MPRA-validated peak1610 silencer Neighboring gene MPRA-validated peak1611 silencer Neighboring gene MPRA-validated peak1613 silencer Neighboring gene Sharpr-MPRA regulatory region 3652 Neighboring gene Sharpr-MPRA regulatory region 12792 Neighboring gene VISTA enhancer hs895 Neighboring gene MPRA-validated peak1614 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:24369389-24370015 Neighboring gene Sharpr-MPRA regulatory region 6359 Neighboring gene SOX5 antisense RNA 1 Neighboring gene microRNA 920

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_079611.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    23640235..23640529
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    23512034..23512328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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