TADA3

transcriptional adaptor 3, the group of ATAC complex|SAGA complex

Basic information

Region (hg38): 3:9779967-9793011

Previous symbols: [ "TADA3L" ]

Links

ENSG00000171148

∙ NCBI:10474 ∙ OMIM:602945 ∙ HGNC:19422 ∙ Uniprot:O75528 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TADA3 gene.

not_specified (38 variants)
not_provided (2 variants)

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. These statistics are base on transcript: NM_000006354.5. 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			1 clinvar		2 clinvar	3
missense			40 clinvar			40
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	0	2

Loading clinvar variants...

GnomAD

Source: gnomAD

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: dbNSFP

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