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LOC129390835 MPRA-validated peak2720 silencer [ Homo sapiens (human) ]

Gene ID: 129390835, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129390835
Gene description
MPRA-validated peak2720 silencer
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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. A subregion 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 an enhancer based on its ability to activate 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 LOC129390835 in Genome Data Viewer
Location:
chromosome: 17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8807111..8807437)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8713314..8713640)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8710429..8710755)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371530 Neighboring gene uncharacterized LOC124903918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11703 Neighboring gene major facilitator superfamily domain containing 6 like Neighboring gene phosphoinositide-3-kinase regulatory subunit 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8730902-8731702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8731703-8732503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8740143-8740949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11712 Neighboring gene uncharacterized LOC107985071 Neighboring gene uncharacterized LOC124903919 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:8788211-8788374 Neighboring gene phosphoinositide-3-kinase regulatory subunit 5

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 active region 11704

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_156465.2 

    Range
    101..427
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    8807111..8807437
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    8713314..8713640
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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