TTK
Basic information
Region (hg38): 6:80003886-80042527
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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.
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.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 2 | |||||
missense | 35 | 38 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 1 | |||||
Total | 0 | 0 | 35 | 3 | 3 |
Variants in TTK
This is a list of pathogenic ClinVar variants found in the TTK region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-80005979-A-G | not specified | Uncertain significance (May 10, 2022) | ||
6-80007877-C-T | not specified | Uncertain significance (Sep 27, 2021) | ||
6-80007902-C-T | not specified | Uncertain significance (Dec 21, 2022) | ||
6-80007973-A-G | not specified | Uncertain significance (Oct 25, 2022) | ||
6-80007993-T-A | not specified | Uncertain significance (Jan 10, 2023) | ||
6-80007994-T-A | not specified | Uncertain significance (Jun 17, 2024) | ||
6-80007994-T-C | not specified | Uncertain significance (Dec 01, 2022) | ||
6-80007995-T-C | not specified | Uncertain significance (Jun 03, 2024) | ||
6-80008400-A-G | not specified | Uncertain significance (May 24, 2024) | ||
6-80008408-C-T | not specified | Uncertain significance (Jun 16, 2024) | ||
6-80008460-A-G | not specified | Uncertain significance (Jun 22, 2021) | ||
6-80008466-C-G | not specified | Uncertain significance (Oct 02, 2023) | ||
6-80010816-A-G | not specified | Uncertain significance (May 18, 2022) | ||
6-80010840-C-A | not specified | Uncertain significance (Apr 18, 2023) | ||
6-80011435-A-G | Likely benign (Jun 10, 2018) | |||
6-80011476-T-A | not specified | Uncertain significance (Jan 18, 2022) | ||
6-80011545-A-G | not specified | Uncertain significance (Apr 21, 2022) | ||
6-80011746-A-C | not specified | Uncertain significance (Oct 29, 2021) | ||
6-80011755-A-G | not specified | Uncertain significance (May 16, 2022) | ||
6-80011758-T-C | not specified | Uncertain significance (Jun 10, 2024) | ||
6-80011763-T-C | not specified | Likely benign (Oct 25, 2023) | ||
6-80011947-C-T | not specified | Uncertain significance (Oct 03, 2023) | ||
6-80011961-G-A | not specified | Uncertain significance (Feb 07, 2023) | ||
6-80013338-A-G | not specified | Uncertain significance (Jul 25, 2023) | ||
6-80014466-G-C | not specified | Uncertain significance (Dec 01, 2022) |
GnomAD
Source:
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:
- 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