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SNORD115-48 small nucleolar RNA, C/D box 115-48 [ Homo sapiens (human) ]

Gene ID: 100033822, updated on 10-Oct-2023

Summary

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Official Symbol
SNORD115-48provided by HGNC
Official Full Name
small nucleolar RNA, C/D box 115-48provided by HGNC
Primary source
HGNC:HGNC:33343
See related
Ensembl:ENSG00000201634 AllianceGenome:HGNC:33343
Gene type
snoRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HBII-52-48
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Genomic context

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See SNORD115-48 in Genome Data Viewer
Location:
15q11.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (25269783..25269858)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (23006450..23006525)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (25514930..25515005)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 14 Neighboring gene small nucleolar RNA, C/D box 115-46 Neighboring gene small nucleolar RNA, C/D box 115-47 Neighboring gene small nucleolar RNA, C/D box 109B Neighboring gene Sharpr-MPRA regulatory region 5757 Neighboring gene ubiquitin protein ligase E3A Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr15:25683287-25684232 and GRCh37_chr15:25684233-25685178

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. Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Runte M, et al. Hum Genet, 2005 Feb. PMID 15565282
  2. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Kishore S, et al. Science, 2006 Jan 13. PMID 16357227
  3. ADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAs. Vitali P, et al. J Cell Biol, 2005 Jun 6. PMID 15939761, Free PMC Article
  4. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Runte M, et al. Hum Mol Genet, 2001 Nov 1. PMID 11726556
  5. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Cavaillé J, et al. Proc Natl Acad Sci U S A, 2000 Dec 19. PMID 11106375, Free PMC Article

See all (7) citations in PubMed

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 studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in RNA processing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  

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.

RNA

  1. NR_003362.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AF250841
    Related
    ENST00000364764.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    25269783..25269858
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    23006450..23006525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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Chemical Information
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Research Materials