CDK14

cyclin dependent kinase 14, the group of Cyclin dependent kinases

Basic information

Region (hg38): 7:90466424-91210590

Previous symbols: [ "PFTK1" ]

Links

ENSG00000058091

∙ NCBI:5218 ∙ OMIM:610679 ∙ HGNC:8883 ∙ Uniprot:O94921 ∙ 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 CDK14 gene.

not_specified (43 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDK14 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001287135.2. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					2 clinvar	2
missense			41 clinvar			41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	0	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CDK14	protein_coding	protein_coding	ENST00000265741	13	744168

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.50e-8	0.903	125723	0	25	125748	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.28	188	244	0.769	0.0000123	2948
Missense in Polyphen		24	82.777	0.28993		1053
Synonymous	0.0776	90	90.9	0.990	0.00000479	861
Loss of Function	1.75	16	25.6	0.626	0.00000126	314

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000392	0.000392
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000978	0.0000967
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000328	0.0000327
Other	0.000501	0.000489

dbNSFP

Source: dbNSFP

Function: FUNCTION: Serine/threonine-protein kinase involved in the control of the eukaryotic cell cycle, whose activity is controlled by an associated cyclin. Acts as a cell-cycle regulator of Wnt signaling pathway during G2/M phase by mediating the phosphorylation of LRP6 at 'Ser-1490', leading to the activation of the Wnt signaling pathway. Acts as a regulator of cell cycle progression and cell proliferation via its interaction with CCDN3. Phosphorylates RB1 in vitro, however the relevance of such result remains to be confirmed in vivo. May also play a role in meiosis, neuron differentiation and may indirectly act as a negative regulator of insulin-responsive glucose transport. {ECO:0000269|PubMed:16461467, ECO:0000269|PubMed:17517622, ECO:0000269|PubMed:19524571, ECO:0000269|PubMed:20059949}.;
Pathway: Transcriptional misregulation in cancer - Homo sapiens (human) (Consensus)

Recessive Scores

pRec: 0.111

Intolerance Scores

loftool: 0.366
rvis_EVS: -0.51
rvis_percentile_EVS: 21.41

Haploinsufficiency Scores

pHI: 0.458
hipred: Y
hipred_score: 0.792
ghis: 0.676

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: Cdk14
Phenotype: skeleton phenotype;

Gene ontology

Biological process: G2/M transition of mitotic cell cycle;protein phosphorylation;Wnt signaling pathway;cell division;regulation of cell cycle;regulation of canonical Wnt signaling pathway
Cellular component: cytoplasmic cyclin-dependent protein kinase holoenzyme complex;nucleus;cytoplasm;cytosol;plasma membrane
Molecular function: cyclin-dependent protein serine/threonine kinase activity;protein binding;ATP binding;cyclin binding