SPATC1L

Chr 21

spermatogenesis and centriole associated 1 like

Also known as: C21orf56

Enables identical protein binding activity. Predicted to be involved in spermatogenesis. Predicted to act upstream of or within actin polymerization or depolymerization; positive regulation of cAMP-dependent protein kinase activity; and positive regulation of cAMP/PKA signal transduction. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.80
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.80LOEUF
pLI 0.000
Z-score -0.49
OE 1.17 (0.731.80)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.29Z-score
OE missense 0.94 (0.841.06)
199 obs / 210.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.17 (0.731.80)
00.351.4
Missense OE?0.94 (0.841.06)
00.61.4
Synonymous OE?1.22
01.21.6
LoF obs/exp: 11 / 9.4Missense obs/exp: 199 / 210.9Syn Z: -1.84

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SPATC1L · 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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