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LOC129388955 MPRA-validated peak3948 silencer [ Homo sapiens (human) ]

Gene ID: 129388955, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129388955
Gene description
MPRA-validated peak3948 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 LOC129388955 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (178627328..178627528)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (179110117..179110317)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179492055..179492255)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907911 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16805 Neighboring gene pleckstrin homology domain containing A3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12151 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179387607-179388119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16810 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16811 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179407630-179408829 Neighboring gene TTN antisense RNA 1 Neighboring gene titin Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179443309-179444508 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179471933-179473132 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179485777-179486976 Neighboring gene uncharacterized LOC124906100 Neighboring gene uncharacterized LOC124907912 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179588362-179589561 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179591393-179592592 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179593794-179594993 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 Neighboring gene uncharacterized LOC124906101

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_154588.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    178627328..178627528
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    179110117..179110317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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