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LOC129391213 MPRA-validated peak4324 silencer [ Homo sapiens (human) ]

Gene ID: 129391213, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129391213
Gene description
MPRA-validated peak4324 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 LOC129391213 in Genome Data Viewer
Location:
chromosome: 20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (64086922..64087122)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65906977..65907177)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62718275..62718475)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13207 Neighboring gene regulator of G protein signaling 19 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:62711846-62712019 Neighboring gene microRNA 6813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13209 Neighboring gene opioid related nociceptin receptor 1 Neighboring gene LKAAEAR motif containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62723260-62723993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62723994-62724726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62732783-62733284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62738466-62738966 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:62740950-62741133 Neighboring gene neuropeptides B and W receptor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62751601-62752100 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:62754467-62755666 Neighboring gene B6.7 minisatellite repeat instability region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62768655-62769156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62769157-62769656 Neighboring gene uncharacterized LOC105372727 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62771493-62772406

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_156843.1 

    Range
    101..301
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    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    64086922..64087122
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    65906977..65907177
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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