CDK13 cyclin dependent kinase 13

Gene info



Previous symbol


External ID

HGNC: 1733
Entrez Gene: 8621
Ensembl: ENSG00000065883
UCSC: uc003thh.5
OMIM: 603309
UniProtKB: Q14004

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Pulmonic stenosis
  • Aortic stenosis

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for CDK13: BED file

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Selected References

  1. Sanchez-Castro, M., Eldjouzi, H., Charpentier, E., Busson, P.-F., Hauet, Q., Lindenbaum, P., Delasalle-Guyomarch, B., Baudry, A., Pichon, O., Pascal, C., Lefort, B., Bajolle, F., Pezard, P., Schott, J.-J., Dina, C., Redon, R., Gournay, V., Bonnet, D., & Le Caignec, C. (2016). Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta. Circulation: Cardiovascular Genetics, 9(1), 86–94. DOI:10.1161/CIRCGENETICS.115.001213 PMID:26643481
  2. Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Turki, S. H. A., Thienpont, B., McRae, J., Fitzgerald, T. W., Singh, T., Swaminathan, G. J., Prigmore, E., Rajan, D., Abdul-Khaliq, H., Banka, S., Bauer, U. M. M., Bentham, J., Berger, F., … Bhattacharya, S. (2016). Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics, 48(9), 1060–1065. DOI:10.1038/ng.3627 PMID:27479907