ATG101

Chr 12

autophagy related 101

Also known as: C12orf44

NCBI Gene: 60673ENSG00000123395UniProt: Q9BSB4

Enables identical protein binding activity. Involved in autophagosome assembly and negative regulation of cell population proliferation. Located in phagophore assembly site. Part of Atg1/ULK1 kinase complex. Biomarker of cholangiocarcinoma; colon cancer; and hepatocellular carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

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
22
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.66
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.66LOEUF
pLI 0.606
Z-score 2.13
OE 0.14 (0.05–0.66)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
1.04Z-score
OE missense 0.75 (0.64–0.89)
107 obs / 141.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.14 (0.05–0.66)
0≤0.351.4
Missense OE?0.75 (0.64–0.89)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 1 / 7.2Missense obs/exp: 107 / 141.9Syn Z: 0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATG101 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients