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LOC129388437 MPRA-validated peak46 silencer [ Homo sapiens (human) ]

Gene ID: 129388437, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129388437
Gene description
MPRA-validated peak46 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 LOC129388437 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 (8307675..8307875)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (7839365..7839565)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (8367735..8367935)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8300112-8300667 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:8299555-8300111 Neighboring gene uncharacterized LOC124903835 Neighboring gene Sharpr-MPRA regulatory region 9077 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:8326586-8327356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 101 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8348386-8348886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 193 Neighboring gene RNA, U6 small nuclear 991, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:8402936-8403676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8409923-8410743 Neighboring gene solute carrier family 45 member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8419297-8419798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8419799-8420298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:8424721-8425691 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:8427517-8428017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:8429621-8430609 Neighboring gene Sharpr-MPRA regulatory region 599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 102 Neighboring gene arginine-glutamic acid dipeptide repeats Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 103 Neighboring gene RERE antisense RNA 1

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_154071.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    8307675..8307875
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    7839365..7839565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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