QSOX1

Chr 1

quiescin sulfhydryl oxidase 1

Also known as: Q6, QSCN6

This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
32
Pubs (1 yr)
P/LP submissions
P/LP missense
0.62
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.000
Z-score 3.29
OE 0.40 (0.260.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.34Z-score
OE missense 0.95 (0.881.03)
410 obs / 429.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.40 (0.260.62)
00.351.4
Missense OE?0.95 (0.881.03)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 14 / 35.0Missense obs/exp: 410 / 429.9Syn Z: 1.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

QSOX1 · 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 →