SPATA31G1

Chr 9

SPATA31 subfamily G member 1

Also known as: C9orf131

NCBI Gene: 138724ENSG00000174038UniProt: Q5VYM1

The SPATA31G1 protein is dispensable for normal development and fertility. Mutations in this gene have been associated with developmental disorders, though the gene shows low constraint to loss-of-function variation (pLI near 0, LOEUF 1.35). The inheritance pattern and specific clinical phenotypes require further characterization.

ResearchSummary from UniProt
LOEUF 1.35
Clinical Summary— SPATA31G1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
71 unique Pathogenic / Likely Pathogenic· 20 VUS of 92 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.35LOEUF
pLI 0.000
Z-score 0.11
OE 0.98 (0.72–1.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-1.68Z-score
OE missense 1.20 (1.13–1.28)
654 obs / 543.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.98 (0.72–1.35)
0≤0.351.4
Missense OE1.20 (1.13–1.28)
0≤0.61.4
Synonymous OE1.07
0≤1.21.6
LoF obs/exp: 27 / 27.6Missense obs/exp: 654 / 543.8Syn Z: -0.77

ClinVar Variant Classifications

92 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic63
Likely Pathogenic8
VUS20
Likely Benign1
63
Pathogenic
8
Likely Pathogenic
20
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
63
0
63
Likely Pathogenic
0
0
8
0
8
VUS
0
11
9
0
20
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total01280092

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SPATA31G1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 2 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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