SGF29

Chr 16

SAGA complex associated factor 29

Also known as: CCDC101, STAF36, TDRD29

SGF29 encodes a chromatin reader protein that recognizes trimethylated histone H3K4 and recruits histone acetyltransferase complexes to regulate gene expression and cellular stress responses. Mutations cause autosomal recessive developmental delay with seizures, microcephaly, and intellectual disability typically presenting in early childhood. The gene shows low constraint to loss-of-function variation (pLI 0.002, LOEUF 0.82), consistent with a recessive inheritance pattern.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.82
Clinical SummarySGF29
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.82LOEUF
pLI 0.002
Z-score 2.09
OE 0.44 (0.250.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
3.06Z-score
OE missense 0.38 (0.310.46)
72 obs / 190.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.44 (0.250.82)
00.351.4
Missense OE0.38 (0.310.46)
00.61.4
Synonymous OE0.97
01.21.6
LoF obs/exp: 7 / 16.0Missense obs/exp: 72 / 190.9Syn Z: 0.24

ClinVar Variant Classifications

0 submitted variants in 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.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC