TADA1

transcriptional adaptor 1, the group of SAGA complex

Basic information

Region (hg38): 1:166856510-166876264

Previous symbols: [ "TADA1L" ]

Links

ENSG00000152382

∙ NCBI:117143 ∙ OMIM:612763 ∙ HGNC:30631 ∙ Uniprot:Q96BN2 ∙ 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 TADA1 gene.

not_specified (42 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TADA1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000053053.4. 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			2 clinvar		1 clinvar	3
missense			46 clinvar			46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	50	0	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TADA1	protein_coding	protein_coding	ENST00000367874	8	19818

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0907	0.908	125678	0	70	125748	0.000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.800	156	187	0.835	0.00000977	2190
Missense in Polyphen		31	47.615	0.65105		577
Synonymous	1.25	59	72.5	0.814	0.00000410	660
Loss of Function	2.76	5	17.4	0.287	9.04e-7	199

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000454	0.000454
Ashkenazi Jewish	0.000200	0.000198
East Asian	0.000109	0.000109
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000432	0.000431
Middle Eastern	0.000109	0.000109
South Asian	0.0000995	0.0000980
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Probably involved in transcriptional regulation.;
Pathway: Chromatin modifying enzymes;HATs acetylate histones;Chromatin organization (Consensus)

Recessive Scores

pRec: 0.113

Intolerance Scores

loftool: 0.775
rvis_EVS: -0.23
rvis_percentile_EVS: 37.11

Haploinsufficiency Scores

pHI: 0.287
hipred: Y
hipred_score: 0.783
ghis: 0.652

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: N
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.539

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Tada1
Phenotype

Gene ontology

Biological process: regulation of transcription by RNA polymerase II;histone H3 acetylation;positive regulation of nucleic acid-templated transcription
Cellular component: SAGA complex;nucleus;nucleoplasm;cytosol;focal adhesion;STAGA complex
Molecular function: transcription coactivator activity;histone acetyltransferase activity