ATOSA

Chr 15

atos homolog A

Also known as: FAM214A, KIAA1370

NCBI Gene: 56204 ENSG00000047346 UniProt: Q32MH5 OMIM: 620168

Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.37

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.37LOEUF

pLI 0.445

Z-score 5.07

OE 0.22 (0.14–0.37)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.94Z-score

OE missense 0.89 (0.82–0.96)

484 obs / 545.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.22 (0.14–0.37)

0≤0.351.4

Missense OE?0.89 (0.82–0.96)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 11 / 49.5Missense obs/exp: 484 / 545.7Syn Z: 1.10

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 53

1,314 rare PASS variants

Rare truncating (LoF)

1 in 1,100

140 rare PASS variants

Rare synonymous (reference)

1 in 130

478 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ATOSA. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 66	1 in 1,000
South Asian	~43k	1 in 41	1 in 340
Remaining (unassigned)	~30k	1 in 43	1 in 800
European (Finnish)	~27k	1 in 140	1 in 3,300
Admixed American	~22k	1 in 54	1 in 1,400
African / African American	~21k	1 in 33	1 in 1,200
East Asian	~20k	1 in 51	1 in 930
Ashkenazi Jewish	~13k	1 in 240	1 in 810
Middle Eastern	~2,884	1 in 43	≈ 1 in 2,900

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.

Exome coverage (gnomAD): 10 of 12 coding exons well covered in gnomAD exomes; exons 8, 9 marginal. Genomes: all 12.? see exons ↓