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LOC125368554 Sharpr-MPRA regulatory region 2996 [ Homo sapiens (human) ]

Gene ID: 125368554, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125368554
Gene description
Sharpr-MPRA regulatory region 2996
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 DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, May 2022]
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Genomic context

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Location:
18q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (23131725..23132019)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (23325052..23325346)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RB binding protein 8, endonuclease Neighboring gene RNA, 7SL, cytoplasmic 745, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20664224-20664724 Neighboring gene Sharpr-MPRA regulatory region 2761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20685239-20685740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20685741-20686240 Neighboring gene uncharacterized LOC124904266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20701091-20701590 Neighboring gene NANOG hESC enhancer GRCh37_chr18:20702454-20703005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20738534-20739053 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20749225-20750158 Neighboring gene Cdk5 and Abl enzyme substrate 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9355 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20762837-20763336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20768869-20769375 Neighboring gene MPRA-validated peak3070 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20776067-20776663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13150 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:20829775-20830276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20839263-20839926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13152 Neighboring gene transmembrane protein 241 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20862678-20863368 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20864059-20864750 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20864751-20865440 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20869474-20870086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20870087-20870699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20882361-20883251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20887449-20887950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20887951-20888450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20910236-20910904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13153 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:20956411-20956910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13154 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:20963589-20963764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:21033050-21033550 Neighboring gene RIO kinase 3

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_080669.1 

    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    23131725..23132019
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    23325052..23325346
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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