POTEB

Chr 15

POTE ankyrin domain family member B

Also known as: A26B1, CT104.5, POTE-15, POTE15

NCBI Gene: 100996331 ENSG00000233917 UniProt: A0A0A6YYL3

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

1.81

LOEUF

Multiple*

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?

1.81LOEUF

pLI 0.353

Z-score 0.75

OE 0.00 (0.00–1.81)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.67Z-score

OE missense 1.71 (1.02–1.95)

12 obs / 7.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.00 (0.00–1.81)

0≤0.351.4

Missense OE?1.71 (1.02–1.95)

0≤0.61.4

Synonymous OE?1.91

0≤1.21.6

LoF obs/exp: 0 / 0.6Missense obs/exp: 12 / 7.0Syn Z: -1.16

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

gnomAD v4 · ~226k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 45,000

2 rare PASS variants

Rare synonymous (reference)

1 in 500

1 rare PASS variants

Rare missense and truncating variants are carried at similar rates in POTEB; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 2 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~188k	none seen	≈ 1 in 47,000
Remaining (unassigned)	~8,754	none seen	≈ 1 in 8,800

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 11 coding exons well covered in gnomAD exomes; exons 1, 2, 3, 4, 5 and 6 more poorly covered. Genomes: 0 of 11 (exons 1, 2, 3, 4, 5 and 6 more below).? see exons ↓