SRSF3

Chr 6

serine and arginine rich splicing factor 3

Also known as: SFRS3, SRp20

The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene. [provided by RefSeq, Sep 2010]

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
49
Pubs (1 yr)
P/LP submissions
P/LP missense
0.29
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.29LOEUF
pLI 0.963
Z-score 2.97
OE 0.00 (0.000.29)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
3.07Z-score
OE missense 0.17 (0.120.25)
18 obs / 107.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.00 (0.000.29)
00.351.4
Missense OE?0.17 (0.120.25)
00.61.4
Synonymous OE?1.22
01.21.6
LoF obs/exp: 0 / 10.3Missense obs/exp: 18 / 107.5Syn Z: -1.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SRSF3 · 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

No active trials found for this gene.

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