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LOC129389975 MPRA-validated peak6973 silencer [ Homo sapiens (human) ]

Gene ID: 129389975, updated on 14-Oct-2023

Summary

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Gene symbol
LOC129389975
Gene description
MPRA-validated peak6973 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 LOC129389975 in Genome Data Viewer
Location:
chromosome: 8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (29195879..29196079)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (29474065..29474265)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene homeobox containing 1 Neighboring gene uncharacterized LOC105379346 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:28913988-28915187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27181 Neighboring gene Sharpr-MPRA regulatory region 8281 Neighboring gene RNA, 5S ribosomal pseudogene 260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:28924055-28924554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:28927814-28928543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:28932443-28932946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:28932947-28933448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:28937642-28938205 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:28945064-28945235 Neighboring gene kinesin family member 13B Neighboring gene ReSE screen-validated silencer GRCh37_chr8:29063474-29063627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27183 Neighboring gene high mobility group box 1 pseudogene 23 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19069 Neighboring gene uncharacterized LOC124901922 Neighboring gene Sharpr-MPRA regulatory region 4987 Neighboring gene uncharacterized LOC124901923

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_155605.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    29195879..29196079
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    29474065..29474265
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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