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LOC129388803 MPRA-validated peak812 silencer [ Homo sapiens (human) ]

Gene ID: 129388803, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129388803
Gene description
MPRA-validated peak812 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 LOC129388803 in Genome Data Viewer
Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (246386433..246386633)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (245808581..245808781)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (246549735..246549935)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SET and MYND domain containing 3 Neighboring gene uncharacterized LOC124904573 Neighboring gene RNA, U6 small nuclear 1283, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:246383465-246384417 Neighboring gene VISTA enhancer hs2070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:246487577-246488097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2031 Neighboring gene SMYD3 intronic transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:246518331-246518956 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:246533672-246533878 Neighboring gene Sharpr-MPRA regulatory region 15017 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:246591613-246592114 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:246592115-246592614 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:246612672-246613232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:246669532-246670032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:246670033-246670533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2034 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:246671208-246671440 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:246679947-246680127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:246701627-246702127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2855 Neighboring gene long intergenic non-protein coding RNA 1743 Neighboring gene transcription factor B2, mitochondrial

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_154436.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    246386433..246386633
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    245808581..245808781
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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