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LOC124819394 Sharpr-MPRA regulatory region 9141 [ Homo sapiens (human) ]

Gene ID: 124819394, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124819394
Gene description
Sharpr-MPRA regulatory region 9141
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 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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Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (108609993..108610287)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (108584584..108584878)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4828 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6969 Neighboring gene iron-sulfur cluster assembly enzyme Neighboring gene ReSE screen-validated silencer GRCh37_chr12:108976096-108976273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108982554-108983282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108987423-108988089 Neighboring gene transmembrane protein 119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6971 Neighboring gene uncharacterized LOC105369968 Neighboring gene selectin P ligand Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4830 Neighboring gene microRNA 4496

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_079811.1 

    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
    108609993..108610287
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    108584584..108584878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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