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    LOC100289473 cytoskeleton associated protein 2-like pseudogene [ Homo sapiens (human) ]

    Gene ID: 100289473, updated on 22-Oct-2024

    Summary

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    Gene symbol
    LOC100289473
    Gene description
    cytoskeleton associated protein 2-like pseudogene
    See related
    Ensembl:ENSG00000286288
    Gene type
    pseudo
    RefSeq status
    PREDICTED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See LOC100289473 in Genome Data Viewer
    Location:
    20p13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (1773365..1779746, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (1789514..1796090, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (1754011..1760392, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904858 Neighboring gene CKAP2L pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12594 Neighboring gene Sharpr-MPRA regulatory region 14496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:1809920-1810830 Neighboring gene uncharacterized LOC105372501 Neighboring gene uncharacterized LOC124904857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17460

    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. Signal regulatory proteins in the immune system. van Beek EM, et al. J Immunol, 2005 Dec 15. PMID 16339510
    2. A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. Hu Z, et al. Nat Genet, 2011 Dec 25. PMID 22197933
    3. Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. Zhang ZD, et al. Genome Biol, 2010. PMID 20210993, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
    EBI GWAS Catalog

    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

    • immunoglobulin C1-set domain containing pseudogene

    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_037142.1 RNA Sequence

      Status: PREDICTED

      Source sequence(s)
      AL109809
      Related
      ENST00000458670.1

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      1773365..1779746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      1789514..1796090 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_023540.1: Suppressed sequence

      Description
      NG_023540.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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    Chemical Information
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