SYNPR

Chr 3

synaptoporin

Also known as: SPO

NCBI Gene: 132204ENSG00000163630UniProt: Q8TBG9

Predicted to be involved in modulation of chemical synaptic transmission. Predicted to be located in membrane; neuron projection; and synaptic vesicle. Predicted to be active in hippocampal mossy fiber to CA3 synapse and synaptic vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.88
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?
0.88LOEUF
pLI 0.004
Z-score 1.89
OE 0.45 (0.24–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.42Z-score
OE missense 0.91 (0.79–1.04)
141 obs / 155.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.24–0.88)
0≤0.351.4
Missense OE?0.91 (0.79–1.04)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 6 / 13.5Missense obs/exp: 141 / 155.7Syn Z: -0.79

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SYNPR · 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