STEEP1
Chr XX-linkedSTING1 ER exit protein 1
Also known as: CXorf56, MRX107, STEEP, XLID107
Primary Disease Associations & Inheritance
?Intellectual developmental disorder, X-linked 107MIM #301013
X-linked
Clinical highlights
Gene-disease validity (ClinGen)
intellectual disability, X-linked 107 · XLModerateconsider for supplementary testing
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.31
LOEUF· LoF intol.
LOF
Mechanism· predicted
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.31LOEUF
pLI 0.952
Z-score 2.86
OE 0.00 (0.00–0.31)
Highly LoF-intolerant (top ~10% of genes)
Missense Constraint?
2.24Z-score
OE missense 0.33 (0.25–0.45)
30 obs / 89.6 exp
Moderately missense-constrained (top ~2.5%)
Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.31)
0≤0.351.4
Missense OE?0.33 (0.25–0.45)
0≤0.61.4
Synonymous OE?0.66
0≤1.21.6
LoF obs/exp: 0 / 9.5Missense obs/exp: 30 / 89.6Syn Z: 1.53
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
STEEP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools