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LOC125371414 Sharpr-MPRA regulatory region 9251 [ Homo sapiens (human) ]

Gene ID: 125371414, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125371414
Gene description
Sharpr-MPRA regulatory region 9251
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 22:ReprW, weaker Polycomb repression). [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 (48126378..48126672)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (48317418..48317712)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904297 Neighboring gene uncharacterized LOC105372101 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:45494112-45494840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:45499951-45500451 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:45529319-45530518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:45534013-45534926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:45580577-45581077 Neighboring gene zinc finger and BTB domain containing 7C Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:45605776-45606698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:45654098-45654696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:45665409-45665908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:45698538-45699038 Neighboring gene ZBTB7C antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:45712074-45712592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:45712593-45713110 Neighboring gene RNA, U6 small nuclear 708, pseudogene Neighboring gene ZBTB7C antisense RNA 2

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_080684.1 

    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
    48126378..48126672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    48317418..48317712
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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