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    FRG1BP FSHD region gene 1 family member B, pseudogene [ Homo sapiens (human) ]

    Gene ID: 284802, updated on 22-Oct-2024

    Summary

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    Official Symbol
    FRG1BPprovided by HGNC
    Official Full Name
    FSHD region gene 1 family member B, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:15792
    See related
    Ensembl:ENSG00000287288 AllianceGenome:HGNC:15792
    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
    FRG1B; C20orf80; bA348I14.2
    Expression
    Ubiquitous expression in thyroid (RPKM 14.6), brain (RPKM 13.9) and 25 other tissues See more
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    Genomic context

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    See FRG1BP in Genome Data Viewer
    Location:
    20q11.1-q11.21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (30377164..30419843)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (30373658..30416456, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (29611840..29653908)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372586 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:29556392-29556584 Neighboring gene family with sequence similarity 242 member A Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:29618678-29619179 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:29645466-29645978 Neighboring gene Sharpr-MPRA regulatory region 7852 Neighboring gene MLLT10 pseudogene 1 Neighboring gene RNA, 5.8S ribosomal pseudogene Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene RNA, 18S ribosomal 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. Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11-13;q11) show recurrent involvement of genes at 20q11.21. An Q, et al. Haematologica, 2009 Aug. PMID 19586940, Free PMC Article
    2. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    3. TBK1 phosphorylation activates LIR-dependent degradation of the inflammation repressor TNIP1. Zhou J, et al. J Cell Biol, 2023 Feb 6. PMID 36574265, Free PMC Article
    4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
    5. Panorama of ancient metazoan macromolecular complexes. Wan C, et al. Nature, 2015 Sep 17. PMID 26344197, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data show that sequences 3' of PAX5 disrupting ASXL1, and ZCCHC7 disrupted by sequences 3' of FRG1B and LOC1499503.
      Title: Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11-13;q11) show recurrent involvement of genes at 20q11.21.
    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 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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    Other Names

    • FSHD region gene 1 family, member B

    Clone Names

    • MGC72104

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_003579.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' terminal exon resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      BC062724, BU675133, DA215301
      Related
      ENST00000829750.1

    2. NR_145491.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      ABBA01015426, AL441988, AW189365, BC095491, DA215301

    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
      30377164..30419843
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      30373658..30416456 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_207350.1: Suppressed sequence

      Description
      NM_207350.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version

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