SPATA31E1
Chr 9SPATA31 subfamily E member 1
Also known as: C9orf79, FAM75E1
The protein is predicted to be involved in cell differentiation and spermatogenesis and localizes to cellular membranes. Based on the low constraint scores (pLI 0.03, LOEUF 1.35) and predicted gain-of-function mechanism, mutations would likely cause disease through a dominant inheritance pattern, though specific neurological phenotypes have not been established. The gene's tolerance to loss-of-function variants suggests haploinsufficiency is unlikely to be pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
300 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 21 | 0 | 21 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 252 | 7 | 0 | 259 |
Likely Benign | 0 | 11 | 1 | 2 | 14 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 263 | 35 | 2 | 300 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SPATA31E1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools