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.

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.

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					1	1
missense			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	1

Variants in TADA1

This is a list of pathogenic ClinVar variants found in the TADA1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-166857632-C-T		not specified	Uncertain significance (Dec 07, 2023)
1-166857688-A-G		not specified	Uncertain significance (Dec 15, 2022)
1-166857713-T-C		not specified	Uncertain significance (May 17, 2023)
1-166857719-C-G		not specified	Uncertain significance (Dec 28, 2022)
1-166858147-T-C		not specified	Uncertain significance (Jan 09, 2024)
1-166858180-C-G		not specified	Uncertain significance (Oct 02, 2023)
1-166858228-G-T		not specified	Uncertain significance (Jun 07, 2023)
1-166860244-C-T		not specified	Uncertain significance (Feb 13, 2024)
1-166860279-C-G		not specified	Uncertain significance (Aug 01, 2022)
1-166862205-C-T		not specified	Uncertain significance (Jul 12, 2023)
1-166862213-T-C		not specified	Uncertain significance (Mar 15, 2024)
1-166862238-C-T		not specified	Uncertain significance (Feb 07, 2023)
1-166862249-T-A		not specified	Uncertain significance (Jun 22, 2021)
1-166862348-T-C		not specified	Uncertain significance (Dec 21, 2022)
1-166863829-A-G		not specified	Uncertain significance (Jan 03, 2022)
1-166863886-C-T		not specified	Uncertain significance (Mar 29, 2022)
1-166863911-T-A			Benign (Oct 17, 2017)
1-166869471-C-T		not specified	Uncertain significance (Nov 21, 2023)
1-166869496-C-T		not specified	Uncertain significance (Dec 08, 2023)
1-166876178-A-T		not specified	Uncertain significance (May 15, 2023)
1-166876208-T-C		not specified	Uncertain significance (Jul 11, 2023)
1-166876223-A-T		not specified	Uncertain significance (Oct 05, 2023)

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

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