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    SBDSP1 SBDS pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 155370, updated on 22-Oct-2024

    Summary

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    Official Symbol
    SBDSP1provided by HGNC
    Official Full Name
    SBDS pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:21646
    See related
    Ensembl:ENSG00000291152 AllianceGenome:HGNC:21646
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SBDSP
    Expression
    Ubiquitous expression in thyroid (RPKM 21.2), bone marrow (RPKM 18.8) and 25 other tissues See more
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    Genomic context

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    See SBDSP1 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (72829373..72837399)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74053502..74061527)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72299952..72307978)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene tRNA-yW synthesizing protein 1 homolog B Neighboring gene transmembrane protein 68-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72291163-72291664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72291665-72292164 Neighboring gene Sharpr-MPRA regulatory region 3958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26119 Neighboring gene RNA, 7SL, cytoplasmic 377, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:72308407-72308549 Neighboring gene RNA, 7SL, cytoplasmic 625, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:72339695-72339882 Neighboring gene speedy/RINGO cell cycle regulator family member E7, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Silencing of long non-coding RNA SBDSP1 suppresses tumor growth and invasion in colorectal cancer. Shi D, et al. Biomed Pharmacother, 2017 Jan. PMID 27890432
    2. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Boocock GR, et al. Nat Genet, 2003 Jan. PMID 12496757
    3. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    4. TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions. Banks CA, et al. Mol Cell Proteomics, 2016 Nov. PMID 27609421, Free PMC Article
    5. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

    See all (10) 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 studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • SBDS, ribosome assembly guanine nucleotide exchange factor pseudogene 1
    • SBDS, ribosome maturation factor pseudogene 1
    • Shwachman-Bodian-Diamond syndrome pseudogene 1

    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_001588.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' end compared to variant 1.
      Source sequence(s)
      AC005236, BC010183, DA143511
      Related
      ENST00000437201.6

    2. NR_024109.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' end and lacks an alternate exon compared to variant 1.
      Source sequence(s)
      AC005236, BC010183, CN267170, DA143511
      Related
      ENST00000415772.6

    3. NR_024110.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      BG212607, BM974324, CB216674, CX867149, DA143511
      Related
      ENST00000702913.2

    4. NR_024111.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1.
      Source sequence(s)
      BG212607, BM974324, BQ441749, CB216674, CX867149, DA143511
      Related
      ENST00000685034.2

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      72829373..72837399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      74053502..74061527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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