CHKB-CPT1B (CHKB-CPT1B readthrough (NMD candidate))

Gene
Gene Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
386593
Gene name Gene Name - the full gene name approved by the HGNC.
CHKB-CPT1B readthrough (NMD candidate)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHKB-CPT1B
Synonyms (NCBI Gene) Gene synonyms aliases
CHKL-CPT1B, CPT1-M, CPT1B, CPTI-M
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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. [
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Other IDs Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Congenital muscular dystrophy Muscular Dystrophy, Congenital, Megaconial Type rs1565627745, rs774985604, rs1565629479, rs121913572, rs121913575, rs121913576, rs58932704, rs58912633, rs121912495, rs121912496, rs60458016, rs387906881, rs750764003, rs387907068, rs786205117
View all (45 more)		 21665002
Narcolepsy Narcolepsy rs104894574, rs387906655 18820697