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    BMS1P20 BMS1 pseudogene 20 [ Homo sapiens (human) ]

    Gene ID: 96610, updated on 17-Sep-2024

    Summary

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    Official Symbol
    BMS1P20provided by HGNC
    Official Full Name
    BMS1 pseudogene 20provided by HGNC
    Primary source
    HGNC:HGNC:49153
    See related
    AllianceGenome:HGNC:49153
    Gene type
    pseudo
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IGL; IGLV; IGLV1
    Summary
    This locus appears to be a transcribed pseudogene of the BMS1 homolog of yeast ribosome assembly protein on chromosome 10 that has arisen from duplication of the 3' half of the parent gene. Frameshifts and premature stop codons are present in this pseudogene compared to the parent gene. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21.[provided by RefSeq, Mar 2009]
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    Genomic context

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    See BMS1P20 in Genome Data Viewer
    Location:
    22q11.22
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (22298098..22322968)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (22711826..22736703)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (22652463..22677324)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin lambda locus Neighboring gene Sharpr-MPRA regulatory region 5890 Neighboring gene uncharacterized LOC124905087 Neighboring gene uncharacterized LOC105372952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22644419-22644926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13524 Neighboring gene V-set pre-B cell surrogate light chain 1 Neighboring gene immunoglobulin lambda variable 5-52 Neighboring gene immunoglobulin lambda variable 1-51 Neighboring gene immunoglobulin lambda variable 1-50 (non-functional) Neighboring gene ASH2L pseudogene 3

    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. The human antibody repertoire specific for rabies virus glycoprotein as selected from immune libraries. Kramer RA, et al. Eur J Immunol, 2005 Jul. PMID 15971273
    2. Production and characterization of human monoclonal antibody Fab fragments to vaccinia virus from a phage-display combinatorial library. Schmaljohn C, et al. Virology, 1999 May 25. PMID 10329580, Free PMC Article
    3. A Potent Anti-Malarial Human Monoclonal Antibody Targets Circumsporozoite Protein Minor Repeats and Neutralizes Sporozoites in the Liver. Wang LT, et al. Immunity, 2020 Oct 13. PMID 32946741, Free PMC Article
    4. Rapid isolation and profiling of a diverse panel of human monoclonal antibodies targeting the SARS-CoV-2 spike protein. Zost SJ, et al. bioRxiv, 2020 May 13. PMID 32511414, Free PMC Article
    5. Genetic origin of IgG antibodies cloned by phage display and anti-idiotypic panning from three patients with autoimmune thrombocytopenia. Jendreyko N, et al. Eur J Immunol, 1998 Dec. PMID 9862361

    See all (25) 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)

    Genotypes

    General gene information

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    Markers

    Other Names

    • BMS1 homolog, ribosome assembly protein pseudogene
    • BMS1, ribosome biogenesis factor pseudogene 20
    • IG c1003_light_IGLV1-51_IGLJ2
    • IG c1150_light_IGLV1-51_IGLJ2
    • IG c1279_light_IGLV1-51_IGLJ2
    • IG c1343_light_IGLV1-51_IGLJ2
    • IG c137_light_IGLV1-51_IGLJ2
    • IG c1418_light_IGLV1-51_IGLJ2
    • IG c345_light_IGLV1-51_IGLJ2
    • IG c363_light_IGLV1-51_IGLJ2
    • IG c497_light_IGLV1-51_IGLJ2
    • IG c703_light_IGLV1-51_IGLJ2
    • IG c833_light_IGLV1-51_IGLJ3
    • IGL c1397_light_IGLV1-51_IGLJ2
    • IGL c1510_light_IGLV1-51_IGLJ2
    • IGL c1532_light_IGLV1-51_IGLJ2
    • IGL c1535_light_IGLV1-51_IGLJ2
    • IGL c1574_light_IGLV1-51_IGLJ2
    • IGL c1630_light_IGLV1-51_IGLJ3
    • IGL c1876_light_IGLV1-51_IGLJ2
    • IGL c1911_light_IGLV1-51_IGLJ2
    • IGL c1953_light_IGLV1-51_IGLJ2
    • IGL c2014_light_IGLV1-51_IGLJ2
    • IGL c2090_light_IGLV1-51_IGLJ2
    • IGL c209_light_IGLV1-51_IGLJ3
    • IGL c2102_light_IGLV1-51_IGLJ2
    • IGL c2114_light_IGLV1-51_IGLJ2
    • IGL c2119_light_IGLV1-51_IGLJ2
    • IGL c2212_light_IGLV1-51_IGLJ2
    • IGL c2411_light_IGLV1-51_IGLJ2
    • IGL c31_light_IGLV1-51_IGLJ2
    • IGL c331_light_IGLV1-51_IGLJ2
    • IGL c3648_light_IGLV1-51_IGLJ2
    • IGL c369_light_IGLV1-51_IGLJ3
    • IGL c3772_light_IGLV1-51_IGLJ2
    • IGL c3921_light_IGLV1-51_IGLJ2
    • IGL c3948_light_IGLV1-51_IGLJ2
    • IGL c4094_light_IGLV1-51_IGLJ2
    • IGL c699_light_IGLV1-51_IGLJ3
    • IGL c869_light_IGLV1-51_IGLJ3
    • Immunogloblin light chain variable region
    • anti-HIV-1 V3 immunoglobulin light chain
    • anti-SARS-CoV-2 immunoglobulin lambda chain variable region
    • anti-SARS-CoV-2 immunoglobulin light chain variable region
    • anti-SARS-CoV-2 spike protein immunoglobulin light chain variable region
    • immunoglobulin V region
    • immunoglobulin heavy chain V region
    • immunoglobulin heavy chain variable region
    • immunoglobulin lambda-1 variable region
    • immunoglobulin lamda chain
    • immunoglobulin light chain variable region
    • immunoglobulin variable region light 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.

    Genomic

    1. NG_000002.1 

      Range
      276452..301313
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. NR_027293.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC245060, AK090629, BC133659, DB021899, DB472458

    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
      22298098..22322968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      22711826..22736703
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_080926.1: Suppressed sequence

      Description
      NM_080926.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version

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