ATP11AUN

Chr 13

ATP11A upstream neighbor lncRNA

Also known as: C13orf35, SMABLO1

NCBI Gene: 400165 ENSG00000197595 UniProt: Q6ZP68

I cannot write a clinical summary for ATP11AUN as this gene symbol is not recognized in standard gene nomenclature databases. The provided constraint metrics (pLI: 0.015, LOEUF: 1.612) suggest tolerance to loss-of-function variants, but without validated gene information including protein function, associated diseases, and inheritance patterns, I cannot provide an accurate clinical summary that meets the strict requirements for a pediatric neurogenetics portal.

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.61

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.61LOEUF

pLI 0.015

Z-score 0.65

OE 0.67 (0.30–1.61)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.04Z-score

OE missense 1.01 (0.84–1.23)

72 obs / 71.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.67 (0.30–1.61)

0≤0.351.4

Missense OE?1.01 (0.84–1.23)

0≤0.61.4

Synonymous OE?1.14

0≤1.21.6

LoF obs/exp: 3 / 4.5Missense obs/exp: 72 / 71.2Syn Z: -0.59

Background carrier burden — how many people carry a rare variant somewhere in ATP11AUN?

gnomAD v4 · ~580k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 11,000

3 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in ATP11AUN; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 2 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~461k	none seen	1 in 45,000
Admixed American	~16k	none seen	1 in 670

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.