CDCA8
cell division cycle associated 8, the group of Chromosomal passenger complex
Basic information
Region (hg38): 1:37692481-37709719
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 CDCA8 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 | 0 | |||||
| missense | 17 | 19 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 17 | 2 | 0 |
Variants in CDCA8
This is a list of pathogenic ClinVar variants found in the CDCA8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-37692751-C-T | not specified | Uncertain significance (Nov 09, 2024) | ||
| 1-37692914-G-A | not specified | Uncertain significance (Jun 04, 2024) | ||
| 1-37692917-T-C | not specified | Uncertain significance (Jul 11, 2023) | ||
| 1-37692928-G-C | not specified | Likely benign (Aug 17, 2022) | ||
| 1-37692976-A-G | not specified | Uncertain significance (Sep 21, 2021) | ||
| 1-37698925-A-C | not specified | Uncertain significance (May 18, 2022) | ||
| 1-37700443-G-C | not specified | Uncertain significance (Jul 20, 2022) | ||
| 1-37700458-T-A | not specified | Uncertain significance (Jul 16, 2024) | ||
| 1-37700499-G-A | not specified | Likely benign (Mar 27, 2023) | ||
| 1-37700517-C-T | not specified | Uncertain significance (Oct 01, 2024) | ||
| 1-37701766-C-T | not specified | Uncertain significance (Aug 26, 2024) | ||
| 1-37701789-G-C | not specified | Uncertain significance (Jul 25, 2023) | ||
| 1-37701815-A-G | not specified | Uncertain significance (Apr 29, 2024) | ||
| 1-37703259-C-T | not specified | Uncertain significance (Feb 05, 2024) | ||
| 1-37703281-C-T | not specified | Uncertain significance (Dec 10, 2024) | ||
| 1-37703299-T-C | not specified | Uncertain significance (Mar 31, 2024) | ||
| 1-37705445-T-C | not specified | Uncertain significance (Feb 17, 2024) | ||
| 1-37706985-G-A | not specified | Uncertain significance (May 23, 2023) | ||
| 1-37707056-A-C | not specified | Uncertain significance (Jan 26, 2022) | ||
| 1-37707064-C-T | Likely benign (Dec 31, 2019) | |||
| 1-37708311-TTTC-T | Neutrophil inclusion bodies | Likely pathogenic (-) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CDCA8 | protein_coding | protein_coding | ENST00000373055 | 10 | 17302 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00717 | 0.990 | 125729 | 0 | 18 | 125747 | 0.0000716 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.02 | 126 | 163 | 0.774 | 0.00000873 | 1810 |
| Missense in Polyphen | 44 | 54.781 | 0.8032 | 603 | ||
| Synonymous | 1.38 | 45 | 58.5 | 0.770 | 0.00000297 | 554 |
| Loss of Function | 2.59 | 7 | 19.2 | 0.364 | 0.00000119 | 200 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000206 | 0.000206 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000704 | 0.0000703 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000653 | 0.0000653 |
| Other | 0.000326 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: 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. Major effector of the TTK kinase in the control of attachment- error-correction and chromosome alignment. {ECO:0000269|PubMed:15249581, ECO:0000269|PubMed:15260989, ECO:0000269|PubMed:16571674, ECO:0000269|PubMed:18243099}.;
- Pathway
- Signal Transduction;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;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic;Aurora B signaling
(Consensus)
Recessive Scores
- pRec
- 0.102
Intolerance Scores
- loftool
- 0.660
- rvis_EVS
- -0.18
- rvis_percentile_EVS
- 39.95
Haploinsufficiency Scores
- pHI
- 0.519
- hipred
- Y
- hipred_score
- 0.770
- ghis
- 0.665
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.922
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cdca8
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; 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); embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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);
Zebrafish Information Network
- Gene name
- cdca8
- Affected structure
- brain
- Phenotype tag
- abnormal
- Phenotype quality
- necrotic
Gene ontology
- Biological process
- mitotic sister chromatid segregation;mitotic metaphase plate congression;chromosome organization;cell division
- Cellular component
- chromosome, centromeric region;nucleus;nucleoplasm;nucleolus;cytosol;chromocenter;midbody;chromosome passenger complex;protein-containing complex;intercellular bridge;spindle midzone
- Molecular function
- protein binding