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LOC125371442 Sharpr-MPRA regulatory region 1467 [ Homo sapiens (human) ]

Gene ID: 125371442, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125371442
Gene description
Sharpr-MPRA regulatory region 1467
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 18:Pol2, Pol2 specific locations, majority in genes but substantial portion in intergenic locations). [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 (79899289..79899583)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (80175271..80175565)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77371029-77371622 Neighboring gene uncharacterized LOC105372228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77371623-77372215 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr18:77378514-77379195 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr18:77379196-77379876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77386241-77386740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77386889-77387390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77390729-77391230 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:77404966-77405480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77416983-77417518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77417519-77418054 Neighboring gene CTDP1 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:77438928-77439435 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:77439436-77439944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77441560-77442068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77442069-77442575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77457803-77458304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77458305-77458804 Neighboring gene CTD phosphatase subunit 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:77471187-77471379 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77557221-77557817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77576519-77577020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77577021-77577520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13545 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:77585975-77587174 Neighboring gene potassium voltage-gated channel modifier subfamily G member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77601626-77602126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9578 Neighboring gene Sharpr-MPRA regulatory region 1017 Neighboring gene Sharpr-MPRA regulatory region 11655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:77664167-77664802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77672372-77673288 Neighboring gene solute carrier family 66 member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9579 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9581 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9583 Neighboring gene uncharacterized LOC124904336

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_080712.1 

    Range
    101..395
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    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
    79899289..79899583
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    80175271..80175565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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