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LOC129388423 MPRA-validated peak16 silencer [ Homo sapiens (human) ]

Gene ID: 129388423, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129388423
Gene description
MPRA-validated peak16 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 LOC129388423 in Genome Data Viewer
Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (2638037..2638237)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (2079281..2079481)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2569476..2569676)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2519024-2519656 Neighboring gene peroxiredoxin like 2B Neighboring gene membrane metalloendopeptidase like 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:2556762-2557011 Neighboring gene Sharpr-MPRA regulatory region 11692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2562185-2562685 Neighboring gene MMEL1 antisense RNA 1 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:2586483-2586987 Neighboring gene Sharpr-MPRA regulatory region 15700 Neighboring gene OCT4 hESC enhancer GRCh37_chr1:2587878-2588769 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:2588891-2589402 Neighboring gene tetratricopeptide repeat domain 34 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:2589915-2590426 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:2597430-2597930 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:2597931-2598431 Neighboring gene OCT4 hESC enhancer GRCh37_chr1:2600600-2601101 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:2601784-2602520 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:2603256-2603991 Neighboring gene OCT4 hESC enhancer GRCh37_chr1:2607057-2607636 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:2607637-2608216 Neighboring gene OCT4 hESC enhancer GRCh37_chr1:2609432-2609933 Neighboring gene OCT4 hESC enhancer GRCh37_chr1:2610686-2611577 Neighboring gene OCT4 hESC enhancer GRCh37_chr1:2613783-2614607 Neighboring gene OCT4 hESC enhancer GRCh37_chr1:2628928-2629429 Neighboring gene uncharacterized LOC105378602 Neighboring gene uncharacterized LOC105378601

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_154057.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    2638037..2638237
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187515.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    188822..189022
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    2079281..2079481
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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