TNKS
tankyrase, the group of Sterile alpha motif domain containing|Poly(ADP-ribose) polymerases|Ankyrin repeat domain containing|MicroRNA protein coding host genes
Basic information
Region (hg38): 8:9555912-9782346
Links
Phenotypes
GenCC
Source:
No genCC data.
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 TNKS 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 | 5 | |||||
| missense | 63 | 63 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 2 | 2 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 63 | 1 | 4 |
Variants in TNKS
This is a list of pathogenic ClinVar variants found in the TNKS region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 8-9555947-C-A | not specified | Uncertain significance (Feb 23, 2023) | ||
| 8-9555966-T-A | not specified | Uncertain significance (Nov 18, 2023) | ||
| 8-9555970-C-T | not specified | Uncertain significance (Jun 02, 2023) | ||
| 8-9555997-C-G | not specified | Uncertain significance (Apr 13, 2022) | ||
| 8-9555998-C-T | not specified | Uncertain significance (Apr 12, 2024) | ||
| 8-9556006-G-C | not specified | Uncertain significance (Jan 02, 2024) | ||
| 8-9556010-C-T | Uncertain significance (Dec 19, 2023) | |||
| 8-9556042-C-G | not specified | Uncertain significance (May 31, 2023) | ||
| 8-9556061-C-T | not specified | Uncertain significance (Dec 16, 2022) | ||
| 8-9556063-G-C | not specified | Uncertain significance (Nov 17, 2022) | ||
| 8-9556105-T-G | not specified | Uncertain significance (Mar 29, 2022) | ||
| 8-9556112-C-G | not specified | Uncertain significance (Oct 24, 2023) | ||
| 8-9556145-A-G | not specified | Uncertain significance (Dec 02, 2021) | ||
| 8-9556169-G-A | not specified | Uncertain significance (Aug 13, 2021) | ||
| 8-9556178-C-T | not specified | Uncertain significance (Jan 23, 2024) | ||
| 8-9556210-A-G | not specified | Uncertain significance (Apr 04, 2023) | ||
| 8-9556213-A-G | not specified | Uncertain significance (May 23, 2023) | ||
| 8-9556224-A-T | Benign (Jun 26, 2018) | |||
| 8-9556235-T-G | not specified | Uncertain significance (Dec 19, 2023) | ||
| 8-9556297-C-G | not specified | Uncertain significance (May 27, 2022) | ||
| 8-9556363-T-C | not specified | Uncertain significance (Dec 13, 2022) | ||
| 8-9556366-C-G | not specified | Uncertain significance (Oct 19, 2021) | ||
| 8-9556383-G-A | Benign (Jul 16, 2018) | |||
| 8-9556386-C-G | not specified | Uncertain significance (Oct 05, 2023) | ||
| 8-9556397-G-A | not specified | Uncertain significance (Jul 25, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TNKS | protein_coding | protein_coding | ENST00000310430 | 27 | 226433 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0114 | 0.989 | 125720 | 0 | 28 | 125748 | 0.000111 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.825 | 678 | 741 | 0.915 | 0.0000386 | 8593 |
| Missense in Polyphen | 265 | 383.91 | 0.69027 | 4558 | ||
| Synonymous | -5.06 | 409 | 298 | 1.37 | 0.0000170 | 2722 |
| Loss of Function | 5.28 | 16 | 60.2 | 0.266 | 0.00000307 | 753 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000356 | 0.000337 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000218 | 0.000163 |
| Finnish | 0.000139 | 0.000139 |
| European (Non-Finnish) | 0.000134 | 0.000132 |
| Middle Eastern | 0.000218 | 0.000163 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking. Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation (PARsylation) of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation. Also mediates PARsylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination. Mediates PARsylation of TERF1, thereby contributing to the regulation of telomere length. Involved in centrosome maturation during prometaphase by mediating PARsylation of HEPACAM2/MIKI. May also regulate vesicle trafficking and modulate the subcellular distribution of SLC2A4/GLUT4-vesicles. May be involved in spindle pole assembly through PARsylation of NUMA1. Stimulates 26S proteasome activity. {ECO:0000269|PubMed:10988299, ECO:0000269|PubMed:11739745, ECO:0000269|PubMed:16076287, ECO:0000269|PubMed:19759537, ECO:0000269|PubMed:21478859, ECO:0000269|PubMed:22864114, ECO:0000269|PubMed:23622245}.;
- Pathway
- NAD+ biosynthetic pathways;Regulation of Wnt-B-catenin Signaling by Small Molecule Compounds;Disease;Signaling by WNT;Signal Transduction;telomeres telomerase cellular aging and immortality;Regulation of PTEN stability and activity;Post-translational protein modification;Metabolism of proteins;Ub-specific processing proteases;PTEN Regulation;PIP3 activates AKT signaling;Deubiquitination;Signaling by WNT in cancer;Intracellular signaling by second messengers;Diseases of signal transduction;Regulation of Telomerase;TCF dependent signaling in response to WNT;Degradation of AXIN;XAV939 inhibits tankyrase, stabilizing AXIN
(Consensus)
Recessive Scores
- pRec
- 0.152
Intolerance Scores
- loftool
- 0.410
- rvis_EVS
- -2.45
- rvis_percentile_EVS
- 1.01
Haploinsufficiency Scores
- pHI
- 0.741
- hipred
- Y
- hipred_score
- 0.706
- ghis
- 0.651
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.749
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tnks
- Phenotype
- mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype;
Zebrafish Information Network
- Gene name
- tnksb
- Affected structure
- whole organism
- Phenotype tag
- abnormal
- Phenotype quality
- decreased length
Gene ontology
- Biological process
- protein polyubiquitination;protein ADP-ribosylation;mitotic spindle organization;protein transport;Wnt signaling pathway;peptidyl-serine phosphorylation;peptidyl-threonine phosphorylation;cellular response to nutrient;regulation of telomere maintenance via telomerase;positive regulation of telomere maintenance via telomerase;positive regulation of transcription by RNA polymerase II;mRNA transport;spindle assembly;cell division;positive regulation of telomerase activity;protein localization to chromosome, telomeric region;protein poly-ADP-ribosylation;protein auto-ADP-ribosylation;positive regulation of canonical Wnt signaling pathway;positive regulation of telomere capping;negative regulation of telomere maintenance via telomere lengthening;negative regulation of telomeric DNA binding;negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric
- Cellular component
- Golgi membrane;pericentriolar material;chromosome, centromeric region;chromosome, telomeric region;nuclear chromosome, telomeric region;nucleus;nuclear pore;nucleoplasm;cytoplasm;Golgi apparatus;cytosol;nuclear body;nuclear membrane;mitotic spindle pole
- Molecular function
- NAD+ ADP-ribosyltransferase activity;protein binding;zinc ion binding;histone binding