TPRG1L

Chr 1

tumor protein p63 regulated 1 like

Also known as: FAM79A, SVAP30, TPRGL, h-mover, mover

NCBI Gene: 127262ENSG00000158109UniProt: Q5T0D9OMIM: 611460

Predicted to enable calmodulin binding activity and identical protein binding activity. Predicted to be involved in presynaptic modulation of chemical synaptic transmission; regulation of glutamatergic synaptic transmission; and regulation of synaptic vesicle exocytosis. Predicted to act upstream of or within calcineurin-NFAT signaling cascade; negative regulation of synaptic transmission; and synaptic vesicle docking. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.49
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.49LOEUF
pLI 0.000
Z-score 0.37
OE 0.88 (0.54–1.49)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.78Z-score
OE missense 0.80 (0.68–0.95)
98 obs / 122.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.88 (0.54–1.49)
0≤0.351.4
Missense OE?0.80 (0.68–0.95)
0≤0.61.4
Synonymous OE?1.25
0≤1.21.6
LoF obs/exp: 10 / 11.4Missense obs/exp: 98 / 122.4Syn Z: -1.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TPRG1L · 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