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LOC125177411 Sharpr-MPRA regulatory region 3217 [ Homo sapiens (human) ]

Gene ID: 125177411, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125177411
Gene description
Sharpr-MPRA regulatory region 3217
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 DNase matched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Apr 2022]
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Genomic context

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See LOC125177411 in Genome Data Viewer
Location:
17p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (5972069..5972363)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (5866596..5866890)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene nipsnap homolog 1 (C. elegans) pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:5635830-5637029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11583 Neighboring gene uncharacterized LOC339166 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:5740831-5741332 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:5800477-5801376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:5801377-5802275 Neighboring gene NANOG hESC enhancer GRCh37_chr17:5816130-5816781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:5972935-5973766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:5983596-5984097 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:5990226-5990917 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:5999248-6000148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:6000149-6001047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:6001681-6002448 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:6011648-6011820 Neighboring gene WSC domain containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:6038771-6039272 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:6042463-6043017 Neighboring gene uncharacterized LOC105371508

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_080468.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    5972069..5972363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    5866596..5866890
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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