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    SNORA48 small nucleolar RNA, H/ACA box 48 [ Homo sapiens (human) ]

    Gene ID: 652965, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SNORA48provided by HGNC
    Official Full Name
    small nucleolar RNA, H/ACA box 48provided by HGNC
    Primary source
    HGNC:HGNC:32641
    See related
    Ensembl:ENSG00000209582 AllianceGenome:HGNC:32641
    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
    ACA48; SNORA48A
    Summary
    Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
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    Genomic context

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    See SNORA48 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7574713..7574847)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7478960..7479094)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7478031..7478165)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TNFSF12-TNFSF13 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7460817-7461610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11627 Neighboring gene TNF superfamily member 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8128 Neighboring gene SENP3-EIF4A1 readthrough (NMD candidate) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7466006-7466702 Neighboring gene SUMO specific peptidase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8129 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8130 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7476397-7477152 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7477153-7477908 Neighboring gene eukaryotic translation initiation factor 4A1 Neighboring gene small nucleolar RNA, C/D box 10 Neighboring gene small nucleolar RNA, H/ACA box 67

    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. Mapping to nucleotide resolution of pseudouridine residues in large subunit ribosomal RNAs from representative eukaryotes, prokaryotes, archaebacteria, mitochondria and chloroplasts. Ofengand J, et al. J Mol Biol, 1997 Feb 21. PMID 9047361
    2. snoRNA-LBME-db, a comprehensive database of human H/ACA and C/D box snoRNAs. Lestrade L, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381836, Free PMC Article
    3. Human box H/ACA pseudouridylation guide RNA machinery. Kiss AM, et al. Mol Cell Biol, 2004 Jul. PMID 15199136, Free PMC Article
    4. Eukaryotic snoRNAs: a paradigm for gene expression flexibility. Dieci G, et al. Genomics, 2009 Aug. PMID 19446021

    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

    Other Names

    • ACA48 snoRNA

    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_002918.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AJ609447
      Related
      ENST00000386847.1

    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
      7574713..7574847
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7478960..7479094
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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