AURKA
aurora kinase A, the group of Protein phosphatase 1 regulatory subunits
Basic information
Region (hg38): 20:56369389-56392337
Previous symbols: [ "STK15", "STK6" ]
Links
Phenotypes
GenCC
Source:
- breast cancer (Limited), mode of inheritance: AD
- intellectual disability (Limited), mode of inheritance: AD
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 AURKA 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 | 1 | |||||
| missense | 11 | |||||
| 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 | 7 | 2 | 4 |
Variants in AURKA
This is a list of pathogenic ClinVar variants found in the AURKA region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 20-56370155-T-G | AURKA-related disorder | Benign (Oct 07, 2019) | ||
| 20-56370238-G-C | not specified | Uncertain significance (Apr 26, 2024) | ||
| 20-56370285-C-A | Colorectal cancer | Uncertain significance (Mar 29, 2024) | ||
| 20-56370330-G-A | not specified | Uncertain significance (Aug 01, 2022) | ||
| 20-56370332-G-T | Multiple myeloma | Likely pathogenic (Aug 31, 2019) | ||
| 20-56370546-A-G | not specified | Uncertain significance (Dec 30, 2023) | ||
| 20-56381491-C-T | not specified | Uncertain significance (May 20, 2024) | ||
| 20-56381548-T-C | not specified | Uncertain significance (May 10, 2024) | ||
| 20-56384330-T-C | AURKA-related disorder | Likely benign (Mar 18, 2019) | ||
| 20-56386262-G-A | not specified | Uncertain significance (Aug 21, 2023) | ||
| 20-56386265-G-A | AURKA-related disorder | Likely benign (Jul 03, 2020) | ||
| 20-56386298-T-C | not specified | Likely benign (May 14, 2024) | ||
| 20-56386354-C-G | not specified | Uncertain significance (Feb 16, 2023) | ||
| 20-56386367-G-A | not specified | Likely benign (Jul 05, 2023) | ||
| 20-56386387-C-G | not specified | Uncertain significance (Jul 05, 2023) | ||
| 20-56386407-T-C | AURKA-related disorder | Benign (Oct 17, 2019) | ||
| 20-56386431-A-C | not specified | Uncertain significance (Apr 20, 2024) | ||
| 20-56386485-A-T | Colon cancer, susceptibility to • AURKA-related disorder | Benign (Jul 28, 2020) | ||
| 20-56388177-G-A | Benign (Oct 10, 2018) | |||
| 20-56388190-C-A | not specified | Uncertain significance (Mar 07, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AURKA | protein_coding | protein_coding | ENST00000395909 | 8 | 22949 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.868 | 0.132 | 125734 | 0 | 14 | 125748 | 0.0000557 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.59 | 140 | 204 | 0.686 | 0.0000106 | 2596 |
| Missense in Polyphen | 30 | 76.218 | 0.39361 | 1030 | ||
| Synonymous | -1.46 | 89 | 73.2 | 1.22 | 0.00000355 | 776 |
| Loss of Function | 3.50 | 3 | 19.8 | 0.151 | 9.33e-7 | 257 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000152 | 0.000152 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000264 | 0.0000264 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000196 | 0.000196 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Mitotic serine/threonine kinase that contributes to the regulation of cell cycle progression. Associates with the centrosome and the spindle microtubules during mitosis and plays a critical role in various mitotic events including the establishment of mitotic spindle, centrosome duplication, centrosome separation as well as maturation, chromosomal alignment, spindle assembly checkpoint, and cytokinesis. Required for initial activation of CDK1 at centrosomes. Phosphorylates numerous target proteins, including ARHGEF2, BORA, BRCA1, CDC25B, DLGP5, HDAC6, KIF2A, LATS2, NDEL1, PARD3, PPP1R2, PLK1, RASSF1, TACC3, p53/TP53 and TPX2. Regulates KIF2A tubulin depolymerase activity. Required for normal axon formation. Plays a role in microtubule remodeling during neurite extension. Important for microtubule formation and/or stabilization. Also acts as a key regulatory component of the p53/TP53 pathway, and particularly the checkpoint-response pathways critical for oncogenic transformation of cells, by phosphorylating and stabilizing p53/TP53. Phosphorylates its own inhibitors, the protein phosphatase type 1 (PP1) isoforms, to inhibit their activity. Necessary for proper cilia disassembly prior to mitosis. {ECO:0000269|PubMed:11039908, ECO:0000269|PubMed:11551964, ECO:0000269|PubMed:12390251, ECO:0000269|PubMed:13678582, ECO:0000269|PubMed:14523000, ECO:0000269|PubMed:14702041, ECO:0000269|PubMed:14990569, ECO:0000269|PubMed:15128871, ECO:0000269|PubMed:15147269, ECO:0000269|PubMed:15987997, ECO:0000269|PubMed:17125279, ECO:0000269|PubMed:17360485, ECO:0000269|PubMed:17604723, ECO:0000269|PubMed:18056443, ECO:0000269|PubMed:18615013, ECO:0000269|PubMed:19351716, ECO:0000269|PubMed:19357306, ECO:0000269|PubMed:19668197, ECO:0000269|PubMed:19812038, ECO:0000269|PubMed:20643351, ECO:0000269|PubMed:9606188}.;
- Pathway
- Oocyte meiosis - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Integrated Breast Cancer Pathway;Gastric Cancer Network 1;JAK-STAT;EGF-EGFR Signaling Pathway;Gene expression (Transcription);role of ran in mitotic spindle regulation;Generic Transcription Pathway;RNA Polymerase II Transcription;Aurora A signaling;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;Regulation of PLK1 Activity at G2/M Transition;TP53 Regulates Transcription of Cell Cycle Genes;AURKA Activation by TPX2;FBXL7 down-regulates AURKA during mitotic entry and in early mitosis;G2/M Transition;Mitotic G2-G2/M phases;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Activity;Transcriptional Regulation by TP53;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;APC/C-mediated degradation of cell cycle proteins;Regulation of mitotic cell cycle;Cell Cycle;Integrin-linked kinase signaling;Interaction between PHLDA1 and AURKA;Cell Cycle, Mitotic;Aurora B signaling;PLK1 signaling events
(Consensus)
Recessive Scores
- pRec
- 0.229
Intolerance Scores
- loftool
- 0.674
- rvis_EVS
- 0.9
- rvis_percentile_EVS
- 89.39
Haploinsufficiency Scores
- pHI
- 0.851
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.458
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.923
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aurka
- Phenotype
- hematopoietic system 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); neoplasm; embryo phenotype; growth/size/body region phenotype; cellular phenotype;
Zebrafish Information Network
- Gene name
- aurka
- Affected structure
- cell
- Phenotype tag
- abnormal
- Phenotype quality
- disorganized
Gene ontology
- Biological process
- G2/M transition of mitotic cell cycle;mitotic cell cycle;protein phosphorylation;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;spindle organization;mitotic spindle organization;spindle assembly involved in female meiosis I;mitotic centrosome separation;response to wounding;anterior/posterior axis specification;regulation of G2/M transition of mitotic cell cycle;negative regulation of G2/M transition of mitotic cell cycle;anaphase-promoting complex-dependent catabolic process;regulation of protein stability;negative regulation of protein binding;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;regulation of cytokinesis;histone-serine phosphorylation;negative regulation of apoptotic process;positive regulation of mitotic nuclear division;regulation of centrosome cycle;protein autophosphorylation;cell division;centrosome localization;protein localization to centrosome;liver regeneration;positive regulation of oocyte maturation;regulation of signal transduction by p53 class mediator;neuron projection extension
- Cellular component
- condensed nuclear chromosome, centromeric region;nucleus;nucleoplasm;centrosome;centriole;spindle;cytosol;spindle microtubule;cilium;microtubule cytoskeleton;midbody;spindle pole centrosome;chromosome passenger complex;germinal vesicle;axon hillock;pronucleus;perinuclear region of cytoplasm;spindle midzone;meiotic spindle;mitotic spindle pole
- Molecular function
- protein kinase activity;protein serine/threonine kinase activity;protein serine/threonine/tyrosine kinase activity;protein binding;ATP binding;protein kinase binding;ubiquitin protein ligase binding;histone serine kinase activity;protein heterodimerization activity