ATP11AUN

Chr 13

ATP11A upstream neighbor lncRNA

Also known as: C13orf35, SMABLO1

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.61
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.61LOEUF
pLI 0.015
Z-score 0.65
OE 0.67 (0.301.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.04Z-score
OE missense 1.01 (0.841.23)
72 obs / 71.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.67 (0.301.61)
00.351.4
Missense OE?1.01 (0.841.23)
00.61.4
Synonymous OE?1.14
01.21.6
LoF obs/exp: 3 / 4.5Missense obs/exp: 72 / 71.2Syn Z: -0.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ATP11AUN · 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 →