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LOC129388750 MPRA-validated peak697 silencer [ Homo sapiens (human) ]

Gene ID: 129388750, updated on 14-Oct-2023

Summary

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Gene symbol
LOC129388750
Gene description
MPRA-validated peak697 silencer
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 region was identified as an uncharacterized cis-regulatory element (CRE) that lacked a promoter, enhancer or CTCF-bound insulator chromatin signature. It was validated as a silencer that could repress activity of a super core promoter (SCP1) by STARR-seq massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells. [provided by RefSeq, Apr 2023]
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Genomic context

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See LOC129388750 in Genome Data Viewer
Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (217089394..217089594)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (216330501..216330701)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985596 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:216659268-216659830 Neighboring gene estrogen related receptor gamma Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:216771579-216772306 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:216773848-216774416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2536 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_4286 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_4347 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_4384 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:216913568-216914135 Neighboring gene uncharacterized LOC124904512 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:217086328-217086517 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_4410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:217168113-217168612 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_4481 Neighboring gene Sharpr-MPRA regulatory region 1545 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:217307024-217307790 Neighboring gene Sharpr-MPRA regulatory region 11696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:217309339-217310050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:217310051-217310761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:217311473-217312183 Neighboring gene uncharacterized LOC107985461 Neighboring gene uncharacterized LOC105372920

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. Candidate silencer elements for the human and mouse genomes. Doni Jayavelu N, et al. Nat Commun, 2020 Feb 26. PMID 32103011, 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_154383.1 

    Range
    101..301
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    217089394..217089594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    216330501..216330701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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