ZW10
zw10 kinetochore protein, the group of RZZ complex|NRZ tethering complex
Basic information
Region (hg38): 11:113733187-113773735
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (87 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZW10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004724.4. 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 | 0 | |||||
| missense | 83 | 87 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 83 | 4 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ZW10 | protein_coding | protein_coding | ENST00000200135 | 16 | 40625 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00149 | 0.999 | 125673 | 0 | 75 | 125748 | 0.000298 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.441 | 385 | 410 | 0.939 | 0.0000204 | 5141 |
| Missense in Polyphen | 97 | 118.49 | 0.81861 | 1554 | ||
| Synonymous | 0.967 | 135 | 150 | 0.900 | 0.00000746 | 1453 |
| Loss of Function | 3.81 | 12 | 37.1 | 0.324 | 0.00000157 | 512 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000245 | 0.000244 |
| Ashkenazi Jewish | 0.00151 | 0.00149 |
| East Asian | 0.000217 | 0.000217 |
| Finnish | 0.00102 | 0.00102 |
| European (Non-Finnish) | 0.000195 | 0.000193 |
| Middle Eastern | 0.000217 | 0.000217 |
| South Asian | 0.000173 | 0.000163 |
| Other | 0.000329 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:11590237, PubMed:15485811, PubMed:15824131). Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the interphase NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:15029241). {ECO:0000269|PubMed:11590237, ECO:0000269|PubMed:15029241, ECO:0000269|PubMed:15094189, ECO:0000269|PubMed:15485811, ECO:0000269|PubMed:15824131, ECO:0000305}.;
- Pathway
- Signal Transduction;Vesicle-mediated transport;Membrane Trafficking;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;RHO GTPases Activate Formins;RHO GTPase Effectors;Signaling by Rho GTPases;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic;Intra-Golgi and retrograde Golgi-to-ER traffic
(Consensus)
Recessive Scores
- pRec
- 0.126
Intolerance Scores
- loftool
- 0.757
- rvis_EVS
- -0.97
- rvis_percentile_EVS
- 8.9
Haploinsufficiency Scores
- pHI
- 0.435
- hipred
- Y
- hipred_score
- 0.683
- ghis
- 0.621
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.988
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Zw10
- Phenotype
Gene ontology
- Biological process
- mitotic sister chromatid segregation;establishment of mitotic spindle orientation;endoplasmic reticulum to Golgi vesicle-mediated transport;retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;Golgi organization;mitotic metaphase plate congression;mitotic cell cycle checkpoint;mitotic spindle assembly checkpoint;regulation of exit from mitosis;protein transport;protein localization to kinetochore;cell division;meiotic cell cycle;protein-containing complex assembly
- Cellular component
- kinetochore;condensed chromosome kinetochore;spindle pole;nucleus;endoplasmic reticulum;endoplasmic reticulum membrane;kinetochore microtubule;cytosol;membrane;Dsl1/NZR complex;RZZ complex
- Molecular function
- protein binding;centromeric DNA binding