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LOC124416918 Sharpr-MPRA regulatory region 1864 [ Homo sapiens (human) ]

Gene ID: 124416918, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124416918
Gene description
Sharpr-MPRA regulatory region 1864
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 21:Repr, strong Polycomb repression). [provided by RefSeq, Feb 2022]
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Genomic context

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Location:
10q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (117547698..117547992)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (118442081..118442375)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (119307209..119307503)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378502 Neighboring gene Sharpr-MPRA regulatory region 14976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2861 Neighboring gene EMX2 opposite strand/antisense RNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:119294387-119295350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:119303472-119304094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:119304095-119304717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:119305963-119306585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4100 Neighboring gene VISTA enhancers hs935 and hs1032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:119321491-119321992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:119321993-119322492 Neighboring gene empty spiracles homeobox 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2862 Neighboring gene uncharacterized LOC124902555 Neighboring gene uncharacterized LOC107984274 Neighboring gene uncharacterized LOC124902556 Neighboring gene Sharpr-MPRA regulatory region 1206

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_079134.1 

    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
    117547698..117547992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    118442081..118442375
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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