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LOC122128438 Sharpr-MPRA regulatory region 11909 [ Homo sapiens (human) ]

Gene ID: 122128438, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122128438
Gene description
Sharpr-MPRA regulatory region 11909
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 2:TssF, active promoter, flanking TSS/CpG islands). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
1q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155560578..155560872)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154699131..154699425)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155530369..155530663)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ASH1 like histone lysine methyltransferase Neighboring gene RNA, U6 small nuclear 1297, pseudogene Neighboring gene POU class 5 homeobox 1 pseudogene 4 Neighboring gene NANOG hESC enhancer GRCh37_chr1:155469805-155470306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155484783-155485282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155499969-155500470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1406 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:155515470-155515970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1407 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:155532613-155533180 Neighboring gene Sharpr-MPRA regulatory region 7926 Neighboring gene uncharacterized LOC101929703 Neighboring gene ASH1L antisense RNA 1 Neighboring gene misato mitochondrial distribution and morphology regulator 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_076458.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    155560578..155560872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    154699131..154699425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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