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LOC129388897 MPRA-validated peak3811 silencer [ Homo sapiens (human) ]

Gene ID: 129388897, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129388897
Gene description
MPRA-validated peak3811 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 LOC129388897 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (108846029..108846229)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (109306628..109306828)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (109462485..109462685)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 7B, mitochondrial-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:109334881-109335811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:109335812-109336741 Neighboring gene NANOG hESC enhancer GRCh37_chr2:109343044-109343584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11852 Neighboring gene ribosomal protein L10 pseudogene 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:109407142-109407316 Neighboring gene RAN binding protein 2 Neighboring gene coiled-coil domain containing 138 Neighboring gene MPRA-validated peak3812 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109526299-109526800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109545693-109546192 Neighboring gene ribosomal protein L39 pseudogene 16 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:109573418-109574617 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:109588237-109589436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109589833-109590332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109604149-109604650 Neighboring gene ectodysplasin A receptor

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_154530.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    108846029..108846229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    109306628..109306828
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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