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LOC129391280 MPRA-validated peak4487 silencer [ Homo sapiens (human) ]

Gene ID: 129391280, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129391280
Gene description
MPRA-validated peak4487 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 LOC129391280 in Genome Data Viewer
Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37972589..37972789)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38434211..38434411)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38368596..38368796)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene chromosome 22 open reading frame 23 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13705 Neighboring gene RNA polymerase II, I and III subunit F Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38360913-38361412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38363646-38364146 Neighboring gene Sharpr-MPRA regulatory region 10540 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr22:38367753-38368266 Neighboring gene microRNA 6820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38378831-38379668 Neighboring gene SRY-box transcription factor 10 Neighboring gene VISTA enhancer hs564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38392633-38393194 Neighboring gene microRNA 4534 Neighboring gene VISTA enhancer hs486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38424434-38424934 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:38427029-38428228 Neighboring gene VISTA enhancer hs491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38438297-38438796 Neighboring gene VISTA enhancer hs492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38446442-38446942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38446943-38447443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18990 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38452863-38453488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38453489-38454112 Neighboring gene protein interacting with PRKCA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38470967-38471468

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_156910.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    37972589..37972789
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    38434211..38434411
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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