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LOC129390819 MPRA-validated peak2674 silencer [ Homo sapiens (human) ]

Gene ID: 129390819, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129390819
Gene description
MPRA-validated peak2674 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 LOC129390819 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 (1556302..1556502)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1445002..1445202)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1459596..1459796)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371483 Neighboring gene inositol polyphosphate-5-phosphatase K Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7960 Neighboring gene PITPNA antisense RNA 1 Neighboring gene phosphatidylinositol transfer protein alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1437952-1438452 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:1445478-1446238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1453921-1454835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1463158-1464124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7962 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:1465907-1466406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1474719-1475554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1478810-1479622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1479623-1480434 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1480435-1481246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1481247-1482057 Neighboring gene solute carrier family 43 member 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1488375-1488922 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1488923-1489468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1489469-1490015 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1490016-1490561 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1490562-1491108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1491109-1491655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1493297-1493842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1493843-1494388 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:1495156-1495321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1496929-1497430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1509837-1510602 Neighboring gene RNA, 7SL, cytoplasmic 105, pseudogene Neighboring gene small nucleolar RNA U13

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_156449.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    1556302..1556502
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    1445002..1445202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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