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LOC129390671 MPRA-validated peak2255 silencer [ Homo sapiens (human) ]

Gene ID: 129390671, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129390671
Gene description
MPRA-validated peak2255 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. This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC129390671 in Genome Data Viewer
Location:
chromosome: 14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (103689259..103689459)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (97925328..97925528)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (104155596..104155796)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, U4 small nuclear 68, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr14:104054857-104055031 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104056621-104057122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104057123-104057622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6161 Neighboring gene cytochrome c oxidase assembly factor 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6162 Neighboring gene uncharacterized LOC105370688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104106328-104106828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6168 Neighboring gene kinesin light chain 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:104140157-104140656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104172251-104172810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104172811-104173372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104180589-104181274 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104184511-104185021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104187639-104188139 Neighboring gene X-ray repair cross complementing 3 Neighboring gene zinc finger FYVE-type containing 21 Neighboring gene protein phosphatase 1 regulatory subunit 13B

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
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, 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)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid silent region 6169

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_156301.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    103689259..103689459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    97925328..97925528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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