ATMIN

Chr 16

ATM interactor

Also known as: ASCIZ, ZNF822

NCBI Gene: 23300 ENSG00000166454 UniProt: O43313 OMIM: 614693

The ATMIN protein is a transcription factor that regulates ATM kinase activity and promotes DNA damage response through RAD51 foci formation and DYNLL1 gene activation. The gene is extremely intolerant to loss-of-function variants (pLI near 1.0), suggesting that mutations would likely cause severe developmental or neurological phenotypes, though specific disease associations have not yet been established in the provided data. The high constraint score indicates that pathogenic variants in this gene would be expected to have significant clinical consequences.

OMIM ResearchSummary from RefSeq, UniProt

Enables dynein complex binding activity. Involved in positive regulation of DNA-templated transcription. Located in nuclear body. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.77

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.77LOEUF

pLI 0.000

Z-score 2.40

OE 0.47 (0.29–0.77)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.73Z-score

OE missense 1.10 (1.02–1.19)

451 obs / 409.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.47 (0.29–0.77)

0≤0.351.4

Missense OE?1.10 (1.02–1.19)

0≤0.61.4

Synonymous OE?1.21

0≤1.21.6

LoF obs/exp: 11 / 23.6Missense obs/exp: 451 / 409.2Syn Z: -2.16

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 49

1,136 rare PASS variants

Rare truncating (LoF)

1 in 2,100

87 rare PASS variants

Rare synonymous (reference)

1 in 130

486 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ATMIN. 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 64	1 in 2,800
South Asian	~43k	1 in 46	1 in 510
Remaining (unassigned)	~30k	1 in 48	1 in 2,200
European (Finnish)	~27k	1 in 210	1 in 1,700
Admixed American	~22k	1 in 53	1 in 1,200
African / African American	~21k	1 in 40	1 in 1,000
East Asian	~20k	1 in 50	1 in 1,400
Ashkenazi Jewish	~13k	1 in 340	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 44	≈ 1 in 1,400

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): 3 of 4 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 4.? see exons ↓