ANKRD7

Chr 7

ankyrin repeat domain 7

Also known as: TSA806

NCBI Gene: 56311 ENSG00000106013 UniProt: Q92527 OMIM: 610731

ANKRD7 encodes a protein that localizes to the centrosome and nucleoplasm and is predicted to function in blastocyst hatching during early development. The gene is highly constrained against loss-of-function variants (pLI near 1), but specific disease associations have not been established in the provided data. An autosomal inheritance pattern would be expected for this nuclear gene, though clinical phenotypes remain to be defined.

OMIM ResearchSummary from RefSeq

Predicted to act upstream of or within blastocyst hatching. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.23

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.23LOEUF

pLI 0.000

Z-score 0.95

OE 0.72 (0.45–1.23)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.97Z-score

OE missense 0.76 (0.65–0.90)

99 obs / 130.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.72 (0.45–1.23)

0≤0.351.4

Missense OE?0.76 (0.65–0.90)

0≤0.61.4

Synonymous OE?0.78

0≤1.21.6

LoF obs/exp: 10 / 13.8Missense obs/exp: 99 / 130.2Syn Z: 1.19

Background carrier burden — how many people carry a rare variant somewhere in ANKRD7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 98

312 rare PASS variants

Rare truncating (LoF)

1 in 1,300

70 rare PASS variants

Rare synonymous (reference)

1 in 420

112 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ANKRD7. 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 270	1 in 2,400
South Asian	~43k	1 in 170	1 in 630
Remaining (unassigned)	~30k	1 in 120	1 in 670
European (Finnish)	~27k	1 in 310	≈ 1 in 26,000
Admixed American	~22k	1 in 140	1 in 740
African / African American	~21k	1 in 150	1 in 920
East Asian	~20k	1 in 210	1 in 330
Ashkenazi Jewish	~13k	1 in 420	none seen
Middle Eastern	~2,884	1 in 150	1 in 580

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): 4 of 6 coding exons well covered in gnomAD exomes; exons 4, 6 marginal. Genomes: all 6.? see exons ↓