ANKUB1

Chr 3

ankyrin repeat and ubiquitin domain containing 1

Also known as: C3orf16

NCBI Gene: 389161 ENSG00000206199 UniProt: A6NFN9

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.13

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.13LOEUF

pLI 0.000

Z-score 1.12

OE 0.73 (0.49–1.13)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.95Z-score

OE missense 0.83 (0.74–0.93)

215 obs / 257.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.73 (0.49–1.13)

0≤0.351.4

Missense OE?0.83 (0.74–0.93)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 15 / 20.4Missense obs/exp: 215 / 257.8Syn Z: 0.94

Background carrier burden — how many people carry a rare variant somewhere in ANKUB1?

gnomAD v4 · ~700k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 57

668 rare PASS variants

Rare truncating (LoF)

1 in 950

106 rare PASS variants

Rare synonymous (reference)

1 in 190

236 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ANKUB1. 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)	~540k	1 in 90	1 in 1,400
South Asian	~40k	1 in 53	1 in 230
Remaining (unassigned)	~29k	1 in 55	1 in 690
European (Finnish)	~25k	1 in 400	≈ 1 in 8,200
African / African American	~21k	1 in 77	1 in 1,100
East Asian	~18k	1 in 89	1 in 1,800
Admixed American	~18k	1 in 65	1 in 890
Ashkenazi Jewish	~13k	1 in 520	≈ 1 in 6,300
Middle Eastern	~2,852	1 in 52	≈ 1 in 710

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 1, 4 marginal. Genomes: all 6.? see exons ↓