SGF29

Chr 16

SAGA complex associated factor 29

Also known as: CCDC101, STAF36, TDRD29

NCBI Gene: 112869ENSG00000176476UniProt: Q96ES7

CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.82
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.82LOEUF
pLI 0.002
Z-score 2.09
OE 0.44 (0.25–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
3.06Z-score
OE missense 0.38 (0.31–0.46)
72 obs / 190.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.44 (0.25–0.82)
0≤0.351.4
Missense OE?0.38 (0.31–0.46)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 7 / 16.0Missense obs/exp: 72 / 190.9Syn Z: 0.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SGF29 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients