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    CHKB-CPT1B CHKB-CPT1B readthrough (NMD candidate) [ Homo sapiens (human) ]

    Gene ID: 386593, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CHKB-CPT1Bprovided by HGNC
    Official Full Name
    CHKB-CPT1B readthrough (NMD candidate)provided by HGNC
    Primary source
    HGNC:HGNC:41998
    See related
    Ensembl:ENSG00000254413 AllianceGenome:HGNC:41998
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CPT1B; CPT1-M; CPTI-M; CHKL-CPT1B
    Summary
    The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins. [provided by RefSeq, Jun 2009]
    Expression
    Broad expression in heart (RPKM 47.4), testis (RPKM 36.6) and 24 other tissues See more
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    Genomic context

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    See CHKB-CPT1B in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50568861..50582999, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (51079388..51093527, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (51007290..51021428, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13996 Neighboring gene kelch domain containing 7B Neighboring gene synaptonemal complex central element protein 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:50999771-50999969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13997 Neighboring gene uncharacterized LOC107985568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19331 Neighboring gene carnitine palmitoyltransferase 1B Neighboring gene Sharpr-MPRA regulatory region 1531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14002 Neighboring gene choline kinase beta Neighboring gene CHKB divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:51039601-51040101 Neighboring gene mitogen-activated protein kinase 8 interacting protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:51047655-51048439

    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. Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I. Yamazaki N, et al. J Biol Chem, 2000 Oct 13. PMID 10918069
    2. Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. Miyagawa T, et al. Nat Genet, 2008 Nov. PMID 18820697
    3. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. Hirosawa M, et al. DNA Res, 2001 Feb 28. PMID 11258795
    4. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Loftus BJ, et al. Genomics, 1999 Sep 15. PMID 10493829
    5. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Readthrough CHKB-CPT1B

    Included genes: CHKB, CPT1B

    Other Names

    • CHKB-CPT1B readthrough (non-protein coding)
    • CPT I
    • Carnitine palmitoyltransferase 1B
    • Carnitine palmitoyltransferase I-like protein
    • choline kinase-like, carnitine palmitoyltransferase 1B (muscle) transcription unit

    Clone Names

    • FLJ56256, KIAA1670, MGC149140

    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_027928.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AB051457, CA312186, U62317
      Related
      ENST00000492556.5

    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
      50568861..50582999 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      51079388..51093527 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_003100.1: Suppressed sequence

      Description
      NG_003100.1: This RefSeq was permanently suppressed because it is out of scope for readthrough loci.
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials