STX7

Chr 6

syntaxin 7

ENSG00000079950UniProt: O15400

May be involved in protein trafficking from the plasma membrane to the early endosome (EE) as well as in homotypic fusion of endocytic organelles. Mediates the endocytic trafficking from early endosomes to late endosomes and lysosomes

ResearchGenerating clinical summary…
0
Active trials
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.02
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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?
1.02LOEUF
pLI 0.000
Z-score 1.49
OE 0.62 (0.39–1.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.81Z-score
OE missense 0.80 (0.69–0.94)
110 obs / 136.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.39–1.02)
0≤0.351.4
Missense OE?0.80 (0.69–0.94)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 11 / 17.8Missense obs/exp: 110 / 136.7Syn Z: -0.24

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

STX7 · 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