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    SEPT5-GP1BB SEPT5-GP1BB readthrough [ Homo sapiens (human) ]

    Gene ID: 100526833, updated on 17-Sep-2024

    Summary

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    Gene symbol
    SEPT5-GP1BB
    Gene description
    SEPT5-GP1BB readthrough
    See related
    Ensembl:ENSG00000284874
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GP1BB; GPIbB; GPIb-beta
    Summary
    This locus represents naturally occurring read-through transcription between the neighboring SEPT5 (septin 5) and GP1BB (glycoprotein Ib (platelet), beta polypeptide) genes on chromosome 22. This read-through transcription arises from inefficient use of an imperfect polyA signal in the upstream SEPT5 gene, whereby transcription continues into the GP1BB gene. Alternative splicing results in multiple read-through variants. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD), and are therefore unlikely to produce protein products. [provided by RefSeq, Dec 2010]
    Expression
    Biased expression in brain (RPKM 53.2), heart (RPKM 21.4) and 11 other tissues See more
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    Genomic context

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    See SEPT5-GP1BB in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19717220..19724774)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20094011..20101565)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19704743..19712297)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100420103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19654543-19655394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19655395-19656244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19675661-19676509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19679492-19680051 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19692588-19693325 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19693326-19694062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19696168-19696675 Neighboring gene uncharacterized LOC124905079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19704678-19705319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19705320-19705960 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19705962-19706132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19706308-19706808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19706809-19707309 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19710387-19711165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19711166-19711943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19713539-19714114 Neighboring gene septin 5 Neighboring gene uncharacterized LOC105372861 Neighboring gene Sharpr-MPRA regulatory region 13949 Neighboring gene glycoprotein Ib platelet subunit beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19730021-19730596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19730597-19731170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19734624-19735124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19744621-19745499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19745779-19746288 Neighboring gene VISTA enhancer hs515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19750215-19751157 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19758419-19758590 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19764062-19764563 Neighboring gene T-box transcription factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19771036-19771536 Neighboring gene G protein subunit beta 1 like

    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 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. A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation. Peter B, et al. Am J Med Genet A, 2021 May. PMID 33569883
    2. Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22. Kelly MD, et al. J Clin Invest, 1994 Jun. PMID 8200976, Free PMC Article
    3. Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta. Yagi M, et al. J Biol Chem, 1994 Jul 1. PMID 8021244
    4. Structure and expression of the human septin gene HCDCREL-1. Yagi M, et al. Gene, 1998 Jun 8. PMID 9611266
    5. Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence. Zieger B, et al. J Clin Invest, 1997 Feb 1. PMID 9022087, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation.
      Title: A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation.
    Submit: New GeneRIF Correction

    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

    • Antigen CD42b-beta
    • GP-Ib beta
    • Platelet glycoprotein Ib beta chain

    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_037611.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AB209168, AC000093
      Related
      ENST00000455843.5

    2. NR_037612.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' terminal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AC000093, U59632
      Related
      ENST00000431044.5

    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
      19717220..19724774
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      20094011..20101565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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    Research Materials