SIMC1

Chr 5

SUMO interacting motifs containing 1

Also known as: C5orf25, OOMA1, PLEIAD

Enables SUMO polymer binding activity and peptidase inhibitor activity. Located in PML body and sarcomere. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
0.91
LOEUF
Mechanism
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?
0.91LOEUF
pLI 0.000
Z-score 1.87
OE 0.56 (0.360.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.54Z-score
OE missense 0.90 (0.801.01)
202 obs / 224.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.360.91)
00.351.4
Missense OE?0.90 (0.801.01)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 12 / 21.3Missense obs/exp: 202 / 224.6Syn Z: 0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SIMC1 · 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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