TBCA
Basic information
Region (hg38): 5:77691166-77868780
Links
Phenotypes
GenCC
Source:
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 TBCA 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 | 8 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 7 | 1 | 0 |
Variants in TBCA
This is a list of pathogenic ClinVar variants found in the TBCA region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-77691482-A-G | not specified | Uncertain significance (Jun 18, 2024) | ||
| 5-77691493-A-T | not specified | Uncertain significance (Dec 15, 2023) | ||
| 5-77693273-C-T | not specified | Likely benign (Aug 02, 2023) | ||
| 5-77693274-G-A | not specified | Uncertain significance (Feb 26, 2024) | ||
| 5-77693306-C-T | not specified | Uncertain significance (Apr 25, 2022) | ||
| 5-77693337-C-T | not specified | Uncertain significance (Jun 16, 2023) | ||
| 5-77708304-G-C | not specified | Uncertain significance (Jan 04, 2024) | ||
| 5-77776242-C-G | not specified | Uncertain significance (Dec 19, 2023) | ||
| 5-77776247-G-A | not specified | Uncertain significance (Mar 16, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TBCA | protein_coding | protein_coding | ENST00000380377 | 4 | 177614 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.160 | 0.781 | 125517 | 0 | 4 | 125521 | 0.0000159 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.595 | 45 | 57.7 | 0.780 | 0.00000321 | 707 |
| Missense in Polyphen | 7 | 11.931 | 0.58672 | 156 | ||
| Synonymous | 0.690 | 15 | 18.8 | 0.798 | 9.97e-7 | 170 |
| Loss of Function | 1.55 | 2 | 6.13 | 0.326 | 2.58e-7 | 87 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000558 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000181 | 0.0000176 |
| Middle Eastern | 0.0000558 | 0.0000544 |
| South Asian | 0.0000394 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Tubulin-folding protein; involved in the early step of the tubulin folding pathway.;
- Pathway
- miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase;Metabolism of proteins;Protein folding;Post-chaperonin tubulin folding pathway
(Consensus)
Recessive Scores
- pRec
- 0.116
Intolerance Scores
- loftool
- 0.502
- rvis_EVS
- -0.01
- rvis_percentile_EVS
- 52.85
Haploinsufficiency Scores
- pHI
- 0.275
- hipred
- N
- hipred_score
- 0.388
- ghis
- 0.653
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.208
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tbca
- Phenotype
Gene ontology
- Biological process
- protein folding;tubulin complex assembly;post-chaperonin tubulin folding pathway
- Cellular component
- nucleolus;cytoplasm;microtubule;microtubule cytoskeleton
- Molecular function
- RNA binding;protein binding;beta-tubulin binding;chaperone binding