E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72 of NUMB, but not that of isoform p71 or isoform p65

OMIMResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
0.71
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.71LOEUF
pLI 0.000
Z-score 2.86
OE 0.46 (0.310.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.06Z-score
OE missense 1.01 (0.931.09)
432 obs / 428.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.46 (0.310.71)
00.351.4
Missense OE?1.01 (0.931.09)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 15 / 32.6Missense obs/exp: 432 / 428.8Syn Z: 0.62

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

LNX1 · 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 →