SRSF12

Chr 6

serine and arginine rich splicing factor 12

Also known as: SFRS13B, SFRS19, SRrp35

NCBI Gene: 135295ENSG00000154548UniProt: Q8WXF0

Enables RNA binding activity. Involved in mRNA 5'-splice site recognition and regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be active in nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.72
LOEUF
DN
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?
0.72LOEUF
pLI 0.033
Z-score 2.33
OE 0.34 (0.18–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.11Z-score
OE missense 0.75 (0.64–0.87)
115 obs / 153.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.34 (0.18–0.72)
0≤0.351.4
Missense OE?0.75 (0.64–0.87)
0≤0.61.4
Synonymous OE?0.79
0≤1.21.6
LoF obs/exp: 5 / 14.6Missense obs/exp: 115 / 153.6Syn Z: 1.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SRSF12 · 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