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LOC129391006 MPRA-validated peak3188 silencer [ Homo sapiens (human) ]

Gene ID: 129391006, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129391006
Gene description
MPRA-validated peak3188 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 LOC129391006 in Genome Data Viewer
Location:
chromosome: 18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (77772160..77772360)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (78003698..78003898)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (75484116..75484316)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C8 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:75370231-75371192 Neighboring gene uncharacterized LOC107985129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:75465232-75465784 Neighboring gene NANOG hESC enhancer GRCh37_chr18:75474392-75475106 Neighboring gene VISTA enhancer hs1020 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:75535169-75536368 Neighboring gene VISTA enhancer hs1186 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:75577351-75577852 Neighboring gene RNA, 5S ribosomal pseudogene 461 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:75609611-75610121 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:75611971-75612487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:75617943-75618714 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:75629975-75630209 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50500 Neighboring gene NANOG hESC enhancer GRCh37_chr18:75682747-75683315 Neighboring gene long intergenic non-protein coding RNA 1029

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

See Variation Viewer (GRCh37.p13)

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_156636.1 

    Range
    101..301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    77772160..77772360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    78003698..78003898
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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