ANKRD63

Chr 15

ankyrin repeat domain 63

NCBI Gene: 100131244 ENSG00000230778 UniProt: C9JTQ0

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

0.99

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.99LOEUF

pLI 0.376

Z-score 1.60

OE 0.21 (0.07–0.99)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.56Z-score

OE missense 0.61 (0.51–0.74)

79 obs / 128.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.21 (0.07–0.99)

0≤0.351.4

Missense OE?0.61 (0.51–0.74)

0≤0.61.4

Synonymous OE?1.10

0≤1.21.6

LoF obs/exp: 1 / 4.8Missense obs/exp: 79 / 128.9Syn Z: -0.63

Background carrier burden — how many people carry a rare variant somewhere in ANKRD63?

gnomAD v4 · ~691k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

563 rare PASS variants

Rare truncating (LoF)

1 in 3,600

51 rare PASS variants

Rare synonymous (reference)

1 in 120

344 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ANKRD63. 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)	~539k	1 in 180	1 in 7,000
South Asian	~40k	1 in 100	1 in 810
Remaining (unassigned)	~29k	1 in 160	1 in 2,600
African / African American	~21k	1 in 98	1 in 2,700
East Asian	~18k	1 in 180	1 in 1,600
Admixed American	~18k	1 in 120	≈ 1 in 18,000
European (Finnish)	~17k	1 in 530	≈ 1 in 4,000
Ashkenazi Jewish	~13k	1 in 180	none seen
Middle Eastern	~2,845	1 in 180	≈ 1 in 2,500

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