AP3S1

Chr 5

adaptor related protein complex 3 subunit sigma 1

Also known as: CLAPS3, Sigma3A

NCBI Gene: 1176ENSG00000177879UniProt: Q92572

This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.60
LOEUF
Multiple*
Mechanism· predicted
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?
1.60LOEUF
pLI 0.000
Z-score 0.26
OE 0.90 (0.53–1.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.36Z-score
OE missense 0.60 (0.48–0.75)
56 obs / 92.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.90 (0.53–1.60)
0≤0.351.4
Missense OE?0.60 (0.48–0.75)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 8 / 8.8Missense obs/exp: 56 / 92.9Syn Z: 0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AP3S1 · 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