SEMA6C

Chr 1

semaphorin 6C

Also known as: SEMAY, Sema-Y, m-SemaY, m-SemaY2

NCBI Gene: 10500ENSG00000143434UniProt: Q9H3T2OMIM: 609294

This gene encodes a member of the semaphorin family. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. [provided by RefSeq, May 2010]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.64
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.000
Z-score 3.38
OE 0.42 (0.29–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.59Z-score
OE missense 0.81 (0.74–0.87)
427 obs / 530.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.29–0.64)
0≤0.351.4
Missense OE?0.81 (0.74–0.87)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 17 / 40.1Missense obs/exp: 427 / 530.2Syn Z: 0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SEMA6C · 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