TADA1

Chr 1

transcriptional adaptor 1

Also known as: ADA1, HFI1, STAF42, TADA1L, hADA1

NCBI Gene: 117143 ENSG00000152382 UniProt: Q96BN2 OMIM: 612763

The TADA1L protein is a subunit of the STAGA chromatin-modifying complex that regulates gene transcription through histone acetylation. Mutations cause autosomal recessive intellectual disability with developmental delay and distinctive facial features. This gene is highly constrained against loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]

OMIM ResearchGenerating clinical summary…

LOEUF 0.60

Clinical Summary— TADA1

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.29) despite low pLI — interpret in context.

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ClinVar Variants

47 VUS of 64 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.60LOEUF

pLI 0.091

Z-score 2.76

OE 0.29 (0.15–0.60)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.80Z-score

OE missense 0.84 (0.73–0.95)

156 obs / 186.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.29 (0.15–0.60)

0≤0.351.4

Missense OE?0.84 (0.73–0.95)

0≤0.61.4

Synonymous OE?0.81

0≤1.21.6

LoF obs/exp: 5 / 17.4Missense obs/exp: 156 / 186.8Syn Z: 1.25

ClinVar Variant Classifications

64 submitted variants in ClinVar

ClinVar

Classification Summary

VUS47

Likely Benign1

Benign1

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	47	0	47
Likely Benign	1	0	1
Benign	0	1	1
Total	48	1	49

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

19 pathogenic / likely-pathogenic (of 23) ClinVar copy-number / structural variants overlap TADA1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →