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LOC129391108 MPRA-validated peak3474 silencer [ Homo sapiens (human) ]

Gene ID: 129391108, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129391108
Gene description
MPRA-validated peak3474 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 LOC129391108 in Genome Data Viewer
Location:
chromosome: 19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38815755..38815955)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41619798..41619998)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39306395..39306595)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:39287723-39288637 Neighboring gene RNA, U6 small nuclear 140, pseudogene Neighboring gene galectin 4 Neighboring gene uncharacterized LOC124904712 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr19:39314813-39315370 Neighboring gene enoyl-CoA hydratase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39333551-39334051 Neighboring gene heterogeneous nuclear ribonucleoprotein L Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39338887-39339825 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39339826-39340763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39343185-39343829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10587 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:39350790-39350958 Neighboring gene Sharpr-MPRA regulatory region 3140 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39356343-39356918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39360061-39360631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39360661-39361267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39361268-39361873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10589 Neighboring gene Ras and Rab interactor like

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_156738.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    38815755..38815955
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_014040929.1 Reference GRCh38.p14 PATCHES

    Range
    225427..225627
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    41619798..41619998
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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