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    NBEAP1 neurobeachin pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 606, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NBEAP1provided by HGNC
    Official Full Name
    neurobeachin pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:1007
    See related
    MIM:601889; AllianceGenome:HGNC:1007
    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
    BCL8; BCL8A
    Expression
    Biased expression in prostate (RPKM 8.8), testis (RPKM 8.6) and 2 other tissues See more
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    Genomic context

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    See NBEAP1 in Genome Data Viewer
    Location:
    15q11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (20669468..20756151, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (18581368..18668315, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (20874797..20961480, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ring finger protein 145 pseudogene Neighboring gene immunoglobulin heavy variable 1/OR15-6 (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9153 Neighboring gene RNA, U6 small nuclear 498, pseudogene Neighboring gene uncharacterized LOC124903443 Neighboring gene LONRF2 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. BCL8, a novel gene involved in translocations affecting band 15q11-13 in diffuse large-cell lymphoma. Dyomin VG, et al. Proc Natl Acad Sci U S A, 1997 May 27. PMID 9159141, Free PMC Article
    2. BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function. Dyomin VG, et al. Genomics, 2002 Aug. PMID 12160729
    3. Analysis of the DNA sequence and duplication history of human chromosome 15. Zody MC, et al. Nature, 2006 Mar 30. PMID 16572171
    4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The BCL8 gene family evolved by transchromosomal and intrachromosomal duplications within the human genome.
      Title: BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function.
    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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    Markers

    Other Names

    • B-cell CLL/lymphoma 8

    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_027992.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL832227, DA278599

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      20669468..20756151 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160017.1 Reference GRCh38.p14 PATCHES

      Range
      911224..997910 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      18581368..18668315 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_008857.1: Suppressed sequence

      Description
      NG_008857.1: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene.

    2. NG_025281.1: Suppressed sequence

      Description
      NG_025281.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C6P0.1 GenPept UniProtKB/Swiss-Prot:P0C6P0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.