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LOC124629344 Sharpr-MPRA regulatory region 12222 [ Homo sapiens (human) ]

Gene ID: 124629344, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124629344
Gene description
Sharpr-MPRA regulatory region 12222
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 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). [provided by RefSeq, Mar 2022]
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Genomic context

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See LOC124629344 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 (40099547..40099841)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (40049442..40049736)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 2 member 13 Neighboring gene uncharacterized LOC112268095 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28378 Neighboring gene ribosomal protein L30 pseudogene 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4353 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6206 Neighboring gene LRRK2 divergent transcript Neighboring gene long intergenic non-protein coding RNA 2471 Neighboring gene uncharacterized LOC105369735

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_079623.1 

    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
    40099547..40099841
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    40049442..40049736
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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