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LOC125177453 Sharpr-MPRA regulatory region 474 [ Homo sapiens (human) ]

Gene ID: 125177453, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125177453
Gene description
Sharpr-MPRA regulatory region 474
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 23:Low, low signal proximal to active elements). [provided by RefSeq, Apr 2022]
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Genomic context

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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30645851..30646145)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (31590508..31590802)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SMURF2P1-LRRC37BP1 readthrough transcribed pseudogene Neighboring gene NF1-REPa UWA160-1 recombination region Neighboring gene leucine rich repeat containing 37B pseudogene Neighboring gene SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 2 Neighboring gene leucine rich repeat containing 37B pseudogene 1 Neighboring gene NF1-REPa PRS1 recombination region Neighboring gene uncharacterized LOC105371723 Neighboring gene NF1-REPa PRS2 recombination region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:28993682-28994231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:28994232-28994780 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:28994781-28995330 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29026421-29027394 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:29027395-29028368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12000 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:29036042-29036718 Neighboring gene RNA, 7SL, cytoplasmic 316, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12001 Neighboring gene SUZ12 pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29058617-29059237 Neighboring gene SUZ12P1 PRS4 recombination region Neighboring gene cytokine receptor like factor 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_080508.1 

    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
    30645851..30646145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    31590508..31590802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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