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LOC122152304 Sharpr-MPRA regulatory region 8379 [ Homo sapiens (human) ]

Gene ID: 122152304, updated on 27-Aug-2024

Summary

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Gene symbol
LOC122152304
Gene description
Sharpr-MPRA regulatory region 8379
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 13:Ctcf, distal CTCF/candidate insulator without open chromatin). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
1q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (223320247..223320541)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (222558352..222558646)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (223493589..223493883)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:223289865-223290366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2587 Neighboring gene toll like receptor 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1840 Neighboring gene uncharacterized LOC124904522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:223416162-223416662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2588 Neighboring gene sushi domain containing 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:223514378-223514878 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:223515369-223515546 Neighboring gene uncharacterized LOC105373025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:223567321-223567822 Neighboring gene RNA, U4 small nuclear 57, pseudogene Neighboring gene coiled-coil domain containing 185

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_076578.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    223320247..223320541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    222558352..222558646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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