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LOC129388508 MPRA-validated peak199 silencer [ Homo sapiens (human) ]

Gene ID: 129388508, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129388508
Gene description
MPRA-validated peak199 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 LOC129388508 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 (45590824..45591024)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (45463178..45463378)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (46056496..46056696)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46003942-46004442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46004443-46004943 Neighboring gene high mobility group box 1 pseudogene 48 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46021723-46022469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46022470-46023215 Neighboring gene aldo-keto reductase family 1 member A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46054000-46054500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46054501-46055001 Neighboring gene nuclear autoantigenic sperm protein Neighboring gene coiled-coil domain containing 17 Neighboring gene GC-rich promoter binding protein 1 like 1 Neighboring gene ribosomal protein S15a pseudogene 10

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_154142.1 

    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
    45590824..45591024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    45463178..45463378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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