AURKC
aurora kinase C
Basic information
Region (hg38): 19:57231009-57235548
Previous symbols: [ "STK13" ]
Links
Phenotypes
GenCC
Source:
- spermatogenic failure 5 (Strong), mode of inheritance: AR
- spermatogenic failure 5 (Strong), mode of inheritance: AR
- spermatogenic failure 5 (Strong), mode of inheritance: AR
- spermatogenic failure 5 (Supportive), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Spermatogenic failure 5 | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Genitourinary | 17435757; 19147683; 21733974; 22888167 |
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn_genetic_diseases (29 variants)
- Infertility_associated_with_multi-tailed_spermatozoa_and_excessive_DNA (20 variants)
- not_provided (11 variants)
- AURKC-related_disorder (3 variants)
- not_specified (1 variants)
- Male_infertility_with_spermatogenesis_disorder (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AURKC gene is commonly pathogenic or not. These statistics are base on transcript: NM_001015878.2. 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 | 7 | |||||
| missense | 33 | 36 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 3 | |||||
| splice donor/acceptor (+/-2bp) | 1 | |||||
| Total | 3 | 3 | 38 | 3 | 1 |
Highest pathogenic variant AF is 0.0006492549
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AURKC | protein_coding | protein_coding | ENST00000302804 | 7 | 4540 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0779 | 0.912 | 125614 | 0 | 133 | 125747 | 0.000529 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.502 | 153 | 172 | 0.892 | 0.0000105 | 1997 |
| Missense in Polyphen | 54 | 73.38 | 0.7359 | 888 | ||
| Synonymous | -0.00864 | 67 | 66.9 | 1.00 | 0.00000350 | 623 |
| Loss of Function | 2.25 | 4 | 12.6 | 0.317 | 5.48e-7 | 169 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000929 | 0.000929 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.000862 | 0.000853 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000980 | 0.0000980 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Plays also a role in meiosis and more particularly in spermatogenesis. Has redundant cellular functions with AURKB and can rescue an AURKB knockdown. Like AURKB, AURKC phosphorylates histone H3 at 'Ser-10' and 'Ser-28'. AURKC phosphorylates the CPC complex subunits BIRC5/survivin and INCENP leading to increased AURKC activity. Phosphorylates TACC1, another protein involved in cell division, at 'Ser-228'. {ECO:0000269|PubMed:15316025, ECO:0000269|PubMed:15499654, ECO:0000269|PubMed:15670791, ECO:0000269|PubMed:15938719, ECO:0000269|PubMed:21493633, ECO:0000269|PubMed:21531210, ECO:0000269|PubMed:27332895}.;
- Disease
- DISEASE: Spermatogenic failure 5 (SPGF5) [MIM:243060]: An infertility disorder caused by spermatogenesis defects. Semen from affected men show close to 100% morphologically abnormal multiflagellar spermatozoa with low motility, oversized irregular heads, and abnormal midpiece and acrosome. {ECO:0000269|PubMed:17435757, ECO:0000269|PubMed:21733974}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Aurora C signaling;Aurora B signaling
(Consensus)
Recessive Scores
- pRec
- 0.0955
Intolerance Scores
- loftool
- 0.907
- rvis_EVS
- -0.21
- rvis_percentile_EVS
- 38.58
Haploinsufficiency Scores
- pHI
- 0.0730
- hipred
- N
- hipred_score
- 0.389
- ghis
- 0.464
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.628
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aurkc
- Phenotype
- reproductive system phenotype;
Gene ontology
- Biological process
- protein phosphorylation;mitotic spindle organization;spermatogenesis;attachment of spindle microtubules to kinetochore;histone modification;regulation of cytokinesis;positive regulation of cytokinesis;histone-serine phosphorylation;oocyte development;mitotic spindle midzone assembly;cell division;meiotic cell cycle
- Cellular component
- condensed nuclear chromosome, centromeric region;condensed chromosome;cytoplasm;spindle;spindle microtubule;midbody;spindle pole centrosome;chromosome passenger complex;spindle midzone
- Molecular function
- protein kinase activity;protein serine/threonine/tyrosine kinase activity;protein binding;ATP binding;histone serine kinase activity