CDK18

cyclin dependent kinase 18, the group of Cyclin dependent kinases

Basic information

Region (hg38): 1:205504596-205532793

Previous symbols: [ "PCTK3" ]

Links

ENSG00000117266 ∙ NCBI:5129 ∙ OMIM:169190 ∙ HGNC:8751 ∙ Uniprot:Q07002 ∙ 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 CDK18 gene.

• not_specified (64 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDK18 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000212502.3. 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				1		1
missense			57	1		58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	57	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CDK18	protein_coding	protein_coding	ENST00000506784	15	28199

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.95e-11	0.420	125646	0	102	125748	0.000406

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.479	283	307	0.923	0.0000191	3249
Missense in Polyphen		96	105.94	0.90616		1144
Synonymous	1.54	100	122	0.822	0.00000712	989
Loss of Function	1.13	19	25.1	0.757	0.00000115	302

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000714	0.000713
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000326	0.000326
Finnish	0.000142	0.000139
European (Non-Finnish)	0.000610	0.000607
Middle Eastern	0.000326	0.000326
South Asian	0.0000982	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in signal transduction cascades in terminally differentiated cells.

Recessive Scores

• pRec: 0.138

Intolerance Scores

• loftool: 0.957
• rvis_EVS: 0.2
• rvis_percentile_EVS: 67.3

Haploinsufficiency Scores

• pHI: 0.328
• hipred: N
• hipred_score: 0.284

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cdk18

Gene ontology

• Biological process: protein phosphorylation;regulation of cell cycle
• Cellular component: cellular_component;nucleus;cytoplasm
• Molecular function: protein serine/threonine kinase activity;cyclin-dependent protein serine/threonine kinase activity;protein binding;ATP binding