CCDC107

Chr 9

coiled-coil domain containing 107

Also known as: PSEC0222

This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.72
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.72LOEUF
pLI 0.000
Z-score -0.29
OE 1.09 (0.701.72)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.19Z-score
OE missense 0.95 (0.831.10)
139 obs / 145.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.09 (0.701.72)
00.351.4
Missense OE?0.95 (0.831.10)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 12 / 11.0Missense obs/exp: 139 / 145.6Syn Z: 0.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CCDC107 · 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 →