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LOC129390184 MPRA-validated peak978 silencer [ Homo sapiens (human) ]

Gene ID: 129390184, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129390184
Gene description
MPRA-validated peak978 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 LOC129390184 in Genome Data Viewer
Location:
chromosome: 10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (64908858..64909058)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (65766779..65766979)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (66668616..66668816)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984239 Neighboring gene Sharpr-MPRA regulatory region 14987 Neighboring gene cytochrome P450 family 2 subfamily C member 61, pseudogene Neighboring gene MPRA-validated peak974 silencer Neighboring gene MPRA-validated peak975 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:66569879-66570556 Neighboring gene uncharacterized LOC105378336 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14285 Neighboring gene annexin A2 pseudogene 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14356 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14377 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14431 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14444 Neighboring gene long intergenic non-protein coding RNA 2671 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14489 Neighboring gene uncharacterized LOC102724863 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14563 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14639 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14760 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_14780 Neighboring gene NIMA-related kinase 4 pseudogene 3

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_155814.1 

    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    64908858..64909058
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    65766779..65766979
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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