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LOC124629395 Sharpr-MPRA regulatory region 869 [ Homo sapiens (human) ]

Gene ID: 124629395, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124629395
Gene description
Sharpr-MPRA regulatory region 869
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 K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Mar 2022]
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Genomic context

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See LOC124629395 in Genome Data Viewer
Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (65817829..65818123)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (65797332..65797626)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MSRB3 antisense RNA 1 Neighboring gene uncharacterized LOC105369806 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:66050206-66051405 Neighboring gene PEST containing nuclear protein pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 9176 Neighboring gene MPRA-validated peak1767 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:66132196-66132696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:66135292-66135792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:66135793-66136293 Neighboring gene MPRA-validated peak1768 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6609 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:66155026-66155586 Neighboring gene Sharpr-MPRA regulatory region 15140 Neighboring gene NANOG hESC enhancer GRCh37_chr12:66172695-66173196 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:66175547-66176083 Neighboring gene ribosomal protein SA pseudogene 52 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:66192736-66193237 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:66219383-66219990 Neighboring gene MPRA-validated peak1769 silencer Neighboring gene MPRA-validated peak1770 silencer Neighboring gene HMGA2 antisense RNA 1 Neighboring gene high mobility group AT-hook 2 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:66285256-66286168 Neighboring gene hESC enhancers GRCh37_chr12:66289853-66290620 and GRCh37_chr12:66290621-66291388 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:66291389-66292155 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:66320206-66320716 Neighboring gene HNF4 motif-containing MPRA enhancer 102 Neighboring gene uncharacterized LOC124902955

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_079758.1 

    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
    65817829..65818123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    65797332..65797626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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