cyclin dependent kinase 13
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Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedClefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedcongenital heart defects, dysmorphic facial features, and intellectual developmental disorder
hereditary disease
neurodegenerative disease
Cardiac anomalies-developmental delay-facial dysmorphism syndrome
Global developmental delay
syndromic intellectual disability
craniosynostosis
autism spectrum disorder
neurodevelopmental disorder
Neurodevelopmental delay
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Cyclin-dependent kinase 13
Cyclin-dependent kinase which displays CTD kinase activity and is required for RNA splicing. Has CTD kinase activity by hyperphosphorylating the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit RPB1, thereby acting as a key regulator of transcription elongation. Required for RNA splicing, probably by phosphorylating SRSF1/SF2. Required during hematopoiesis. In case of infection by HIV-1 virus, interacts with HIV-1 Tat protein acetylated at 'Lys-50' and 'Lys-51', thereby increasing HIV-1 mRNA splicing and promoting the production of the doubly spliced HIV-1 protein Nef
CDK13 · Q14004
Mean pLDDT
49.8/ 100
Very low
1,512 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
