ATP11AUN
Chr 13ATP11A upstream neighbor lncRNA
Also known as: C13orf35, SMABLO1
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
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.
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 →No open access results found
External Resources
Links to major genomics databases and tools