CDKL3

cyclin dependent kinase like 3, the group of Cyclin dependent kinases

Basic information

Region (hg38): 5:134286350-134371047

Links

ENSG00000006837 ∙ NCBI:51265 ∙ OMIM:608459 ∙ HGNC:15483 ∙ Uniprot:Q8IVW4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CDKL3 gene.

• not_specified (69 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDKL3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001113575.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			67	2		69
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	2	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CDKL3	protein_coding	protein_coding	ENST00000265334	12	165434

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.26e-12	0.232	124530	1	117	124648	0.000473

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.388	245	263	0.933	0.0000122	3886
Missense in Polyphen		79	95.294	0.82901		1495
Synonymous	1.07	75	87.8	0.854	0.00000427	1043
Loss of Function	0.966	21	26.4	0.797	0.00000140	395

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000561	0.000519
Ashkenazi Jewish	0.00	0.00
East Asian	0.00314	0.00279
Finnish	0.00	0.00
European (Non-Finnish)	0.000441	0.000407
Middle Eastern	0.00314	0.00279
South Asian	0.000335	0.000261
Other	0.000357	0.000330

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.647
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.41

Haploinsufficiency Scores

• pHI: 0.186
• hipred: N
• hipred_score: 0.213
• ghis: 0.447

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.357

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cdkl3

Gene ontology

• Biological process: cellular protein modification process;protein phosphorylation;negative regulation of axon extension;positive regulation of dendrite morphogenesis;regulation of cell cycle;dendrite extension
• Cellular component: nucleus;cytoplasm
• Molecular function: protein kinase activity;cyclin-dependent protein serine/threonine kinase activity;protein binding;ATP binding