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LOC124416843 Sharpr-MPRA regulatory region 10124 [ Homo sapiens (human) ]

Gene ID: 124416843, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124416843
Gene description
Sharpr-MPRA regulatory region 10124
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 6:EnhF, candidate strong enhancer, flanking open chromatin). [provided by RefSeq, Feb 2022]
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Genomic context

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See LOC124416843 in Genome Data Viewer
Location:
10q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (75207971..75208265)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (76081454..76081748)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (76967729..76968023)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene sterile alpha motif domain containing 8 Neighboring gene uncharacterized LOC124902460 Neighboring gene ribosomal protein S26 pseudogene 42 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:76898750-76898917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:76901445-76901944 Neighboring gene MPRA-validated peak1024 silencer Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:76966815-76967564 Neighboring gene Sharpr-MPRA regulatory region 7934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:76982209-76982964 Neighboring gene voltage dependent anion channel 2 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:76983719-76984474 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:76985985-76986738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2511 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2513 Neighboring gene Sharpr-MPRA regulatory region 13796 Neighboring gene catechol-O-methyltransferase domain containing 1

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

See Variation Viewer (GRCh37.p13)

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_079064.1 

    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    75207971..75208265
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    76081454..76081748
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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Other Literature Sources
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