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BMS1P20 BMS1 pseudogene 20 [ Homo sapiens (human) ]

Gene ID: 96610, updated on 27-Dec-2023

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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Location:
22q11.22
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (22298098..22322968)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (22711826..22736703)
105.20220307 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
  • 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 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
  2. 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
  3. Exposure of an occluded hemagglutinin epitope drives selection of a class of cross-protective influenza antibodies. Adachi Y, et al. Nat Commun, 2019 Aug 28. PMID 31462639, Free PMC Article
  4. A broad range of mutations in HIV-1 neutralizing human monoclonal antibodies specific for V2, V3, and the CD4 binding site. Li L, et al. Mol Immunol, 2015 Aug. PMID 25965315, Free PMC Article
  5. Barcode-enabled sequencing of plasmablast antibody repertoires in rheumatoid arthritis. Tan YC, et al. Arthritis Rheumatol, 2014 Oct. PMID 24965753, Free PMC Article

See all (23) 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_2023_10

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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