TTK

TTK protein kinase

Basic information

Region (hg38): 6:80003887-80042527

Links

ENSG00000112742

∙ NCBI:7272 ∙ OMIM:604092 ∙ HGNC:12401 ∙ Uniprot:P33981 ∙ 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 TTK gene.

not_specified (95 variants)
not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTK gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003318.5. 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	1 clinvar	3
missense			89 clinvar	6 clinvar	1 clinvar	96
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	89	8	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTK	protein_coding	protein_coding	ENST00000369798	21	38641

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00127	0.999	125697	0	23	125720	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.722	382	424	0.901	0.0000206	5673
Missense in Polyphen		57	95.85	0.59468		1304
Synonymous	1.05	128	144	0.889	0.00000722	1496
Loss of Function	4.58	15	49.9	0.301	0.00000246	635

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000283	0.000274
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000562	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000819	0.0000791
Middle Eastern	0.0000562	0.0000544
South Asian	0.000190	0.000163
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Phosphorylates proteins on serine, threonine, and tyrosine. Probably associated with cell proliferation. Essential for chromosome alignment by enhancing AURKB activity (via direct CDCA8 phosphorylation) at the centromere, and for the mitotic checkpoint. {ECO:0000269|PubMed:18243099}.;
Pathway: Cell cycle - Homo sapiens (human);Retinoblastoma (RB) in Cancer (Consensus)

Recessive Scores

pRec: 0.169

Intolerance Scores

loftool: 0.339
rvis_EVS: -0.29
rvis_percentile_EVS: 33.47

Haploinsufficiency Scores

pHI: 0.865
hipred: Y
hipred_score: 0.655
ghis: 0.654

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.964

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Ttk
Phenotype: cellular phenotype; reproductive system phenotype;

Zebrafish Information Network

Gene name: ttk
Affected structure: nervous system
Phenotype tag: abnormal
Phenotype quality: quality

Gene ontology

Biological process: spindle organization;mitotic spindle organization;mitotic spindle assembly checkpoint;positive regulation of cell population proliferation;positive regulation of pathway-restricted SMAD protein phosphorylation;female meiosis chromosome segregation;peptidyl-serine phosphorylation;peptidyl-threonine phosphorylation;peptidyl-tyrosine phosphorylation;meiotic spindle assembly checkpoint;protein localization to kinetochore;protein autophosphorylation;chromosome separation;protein localization to meiotic spindle midzone
Cellular component: kinetochore;cytoplasm;spindle;membrane
Molecular function: protein serine/threonine kinase activity;protein serine/threonine/tyrosine kinase activity;protein tyrosine kinase activity;protein binding;ATP binding;protein homodimerization activity;kinetochore binding