SYCE1

Chr 10AR

synaptonemal complex central element protein 1

Also known as: C10orf94, CT76, POF12, SPGF15

This gene encodes a member of the synaptonemal complex, which links homologous chromosomes during prophase I of meiosis. The tripartite structure of the complex is highly conserved amongst metazoans. It consists of two lateral elements and a central region formed by transverse elements and a central element. The protein encoded by this gene localizes to the central element and is required for initiation and elongation of the synapsis. Allelic variants of this gene have been associated with premature ovarian failure and spermatogenic failure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Premature ovarian failure 12MIM #616947
AR
Spermatogenic failure 15MIM #616950
AR

Clinical highlights

Gene-disease validity (ClinGen)
SYCE1-related gametogenic failure · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
10
Pubs (1 yr)
P/LP submissions
P/LP missense
0.96
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.96LOEUF
pLI 0.000
Z-score 1.69
OE 0.63 (0.420.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.66Z-score
OE missense 0.86 (0.760.98)
158 obs / 183.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.420.96)
00.351.4
Missense OE?0.86 (0.760.98)
00.61.4
Synonymous OE?0.95
01.21.6
LoF obs/exp: 15 / 23.9Missense obs/exp: 158 / 183.3Syn Z: 0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SYCE1 · 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.

Search ClinicalTrials.gov →