TADA3
transcriptional adaptor 3, the group of ATAC complex|SAGA complex
Basic information
Region (hg38): 3:9779967-9793011
Previous symbols: [ "TADA3L" ]
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 TADA3 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 | 2 | |||||
| missense | 15 | 15 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 15 | 0 | 2 |
Variants in TADA3
This is a list of pathogenic ClinVar variants found in the TADA3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 3-9780499-A-T | not specified | Uncertain significance (Jun 28, 2022) | ||
| 3-9780526-C-T | not specified | Uncertain significance (Mar 22, 2023) | ||
| 3-9784064-C-G | not specified | Uncertain significance (Nov 28, 2023) | ||
| 3-9784182-T-G | not specified | Uncertain significance (Jul 21, 2021) | ||
| 3-9784204-A-T | not specified | Uncertain significance (Aug 26, 2022) | ||
| 3-9785334-T-A | not specified | Uncertain significance (Jul 12, 2022) | ||
| 3-9785375-C-T | Benign (Aug 15, 2017) | |||
| 3-9787076-T-C | not specified | Uncertain significance (Sep 14, 2023) | ||
| 3-9787226-C-A | not specified | Uncertain significance (Sep 23, 2023) | ||
| 3-9787258-G-A | not specified | Uncertain significance (Dec 11, 2023) | ||
| 3-9787261-G-A | not specified | Uncertain significance (Jun 07, 2023) | ||
| 3-9789561-C-T | not specified | Uncertain significance (Oct 28, 2023) | ||
| 3-9789594-G-A | not specified | Uncertain significance (Dec 06, 2021) | ||
| 3-9789739-C-T | Benign (Aug 15, 2017) | |||
| 3-9789830-G-A | not specified | Uncertain significance (Jun 06, 2023) | ||
| 3-9789894-C-T | not specified | Uncertain significance (Oct 04, 2022) | ||
| 3-9791289-G-A | not specified | Uncertain significance (Feb 10, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TADA3 | protein_coding | protein_coding | ENST00000301964 | 8 | 13152 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000565 | 0.974 | 125728 | 0 | 20 | 125748 | 0.0000795 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.12 | 173 | 271 | 0.638 | 0.0000172 | 2812 |
| Missense in Polyphen | 41 | 78.845 | 0.52001 | 776 | ||
| Synonymous | -1.30 | 126 | 109 | 1.16 | 0.00000642 | 875 |
| Loss of Function | 2.00 | 10 | 19.6 | 0.511 | 9.95e-7 | 231 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000182 | 0.000181 |
| Ashkenazi Jewish | 0.0000992 | 0.0000992 |
| East Asian | 0.0000552 | 0.0000544 |
| Finnish | 0.0000927 | 0.0000924 |
| European (Non-Finnish) | 0.0000530 | 0.0000527 |
| Middle Eastern | 0.0000552 | 0.0000544 |
| South Asian | 0.000164 | 0.000163 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex. Also known as a coactivator for p53/TP53-dependent transcriptional activation. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. {ECO:0000269|PubMed:11707411, ECO:0000269|PubMed:19103755}.;
- Pathway
- Human papillomavirus infection - Homo sapiens (human);Post-translational protein modification;Metabolism of proteins;Chromatin modifying enzymes;HATs acetylate histones;Ub-specific processing proteases;Deubiquitination;Chromatin organization
(Consensus)
Recessive Scores
- pRec
- 0.113
Intolerance Scores
- loftool
- 0.180
- rvis_EVS
- -0.71
- rvis_percentile_EVS
- 14.4
Haploinsufficiency Scores
- pHI
- 0.477
- hipred
- Y
- hipred_score
- 0.765
- ghis
- 0.604
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.518
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tada3
- Phenotype
- cellular 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; embryo phenotype;
Gene ontology
- Biological process
- mitotic cell cycle;regulation of protein phosphorylation;regulation of transcription by RNA polymerase II;positive regulation of gene expression;protein deubiquitination;intracellular estrogen receptor signaling pathway;regulation of histone deacetylation;regulation of protein stability;histone H3 acetylation;histone H4 acetylation;positive regulation of transcription, DNA-templated;regulation of tubulin deacetylation
- Cellular component
- SAGA complex;nucleus;nucleoplasm;Ada2/Gcn5/Ada3 transcription activator complex;STAGA complex;transcription factor TFTC complex;mitotic spindle
- Molecular function
- transcription coactivator activity;histone acetyltransferase activity;protein binding;nuclear receptor binding;protein domain specific binding;nuclear receptor transcription coactivator activity;thiol-dependent ubiquitinyl hydrolase activity