TACC3
transforming acidic coiled-coil containing protein 3, the group of TACC family
Basic information
Region (hg38): 4:1712858-1745171
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (143 variants)
- not_provided (10 variants)
- Hereditary_breast_ovarian_cancer_syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TACC3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006342.3. 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 | 4 | |||||
| missense | 137 | 147 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 138 | 8 | 6 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TACC3 | protein_coding | protein_coding | ENST00000313288 | 15 | 23672 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 2.71e-7 | 0.999 | 125700 | 0 | 30 | 125730 | 0.000119 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.785 | 541 | 492 | 1.10 | 0.0000285 | 5438 |
| Missense in Polyphen | 110 | 112.13 | 0.98096 | 1388 | ||
| Synonymous | -2.52 | 261 | 214 | 1.22 | 0.0000150 | 1673 |
| Loss of Function | 2.94 | 17 | 36.1 | 0.471 | 0.00000154 | 442 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000153 | 0.000153 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000160 | 0.000158 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.000263 | 0.000261 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:21297582, PubMed:23532825). May be involved in the control of cell growth and differentiation. May contribute to cancer (PubMed:14767476). {ECO:0000250|UniProtKB:Q9JJ11, ECO:0000269|PubMed:14767476, ECO:0000269|PubMed:21297582, ECO:0000269|PubMed:23532825}.;
- Pathway
- RNA transport - Homo sapiens (human);Signal Transduction;NOTCH3 Activation and Transmission of Signal to the Nucleus;Signaling by NOTCH3;Signaling by NOTCH;Aurora A signaling;Integrin-linked kinase signaling
(Consensus)
Recessive Scores
- pRec
- 0.0735
Intolerance Scores
- loftool
- 0.677
- rvis_EVS
- 0.1
- rvis_percentile_EVS
- 60.76
Haploinsufficiency Scores
- pHI
- 0.603
- hipred
- N
- hipred_score
- 0.492
- ghis
- 0.530
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.783
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tacc3
- Phenotype
- endocrine/exocrine gland phenotype; growth/size/body region phenotype; craniofacial phenotype; immune system phenotype; cellular phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; embryo phenotype; neoplasm; 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); normal phenotype; limbs/digits/tail phenotype; skeleton phenotype;
Gene ontology
- Biological process
- microtubule cytoskeleton organization;mitotic spindle organization;metaphase/anaphase transition of mitotic cell cycle;cell population proliferation;cerebral cortex development;cell division;regulation of mitotic spindle organization;microtubule cytoskeleton organization involved in mitosis
- Cellular component
- spindle pole;cytoplasm;microtubule organizing center;cytosol;mitotic spindle
- Molecular function
- protein binding