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LOC129391254 MPRA-validated peak4431 silencer [ Homo sapiens (human) ]

Gene ID: 129391254, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129391254
Gene description
MPRA-validated peak4431 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 LOC129391254 in Genome Data Viewer
Location:
chromosome: 21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (46448963..46449163)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (44835089..44835289)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47868876..47869076)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC128092249 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:47746938-47747110 Neighboring gene pericentrin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18601 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47783310-47783810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18603 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47798693-47799473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47805909-47806409 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47823360-47823870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47823871-47824380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47831521-47832096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47841246-47841752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47841753-47842259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47842260-47842765 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47846379-47846880 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47846881-47847380 Neighboring gene ribosomal protein L18a pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47863446-47864365 Neighboring gene uncharacterized LOC124905046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18605 Neighboring gene DIP2A intronic transcript 1 Neighboring gene disco interacting protein 2 homolog A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18606 Neighboring gene RNA, U6 small nuclear 396, pseudogene

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_156884.1 

    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    46448963..46449163
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    44835089..44835289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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