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LOC129390391 MPRA-validated peak1554 silencer [ Homo sapiens (human) ]

Gene ID: 129390391, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129390391
Gene description
MPRA-validated peak1554 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 LOC129390391 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (7259110..7259310)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (7272475..7272675)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7411706..7411906)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7340767-7341268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7341269-7341768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7342139-7342855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7342856-7343571 Neighboring gene peroxisomal biogenesis factor 5 Neighboring gene acyl-CoA synthetase medium chain family member 6 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr12:7434099-7434654 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:7469109-7470308 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:7476238-7477437 Neighboring gene acyl-CoA synthetase medium chain family member 4 Neighboring gene CD163 molecule like 1 Neighboring gene uncharacterized LOC101927882

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_156021.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    7259110..7259310
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021160008.1 Reference GRCh38.p14 PATCHES

    Range
    186796..186996
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    7272475..7272675
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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