PNCK

Chr X

pregnancy up-regulated nonubiquitous CaM kinase

Also known as: BSTK3, CaMK1b

NCBI Gene: 139728 ENSG00000130822 UniProt: Q6P2M8 OMIM: 300680

PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM, Mar 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.10

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.10LOEUF

pLI 0.000

Z-score 1.29

OE 0.65 (0.40–1.10)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.51Z-score

OE missense 0.69 (0.60–0.80)

132 obs / 190.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.65 (0.40–1.10)

0≤0.351.4

Missense OE?0.69 (0.60–0.80)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 10 / 15.5Missense obs/exp: 132 / 190.6Syn Z: -0.03

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

gnomAD v4 · ~732k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

436 rare PASS variants

Rare truncating (LoF)

1 in 740

78 rare PASS variants

Rare synonymous (reference)

1 in 360

185 rare PASS variants

Rare missense and truncating variants are carried at similar rates in PNCK; 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 · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~561k	1 in 240	1 in 700
South Asian	~36k	1 in 120	1 in 1,700
Remaining (unassigned)	~31k	1 in 130	1 in 710
European (Finnish)	~27k	1 in 250	1 in 1,100
Admixed American	~23k	1 in 160	1 in 3,300
African / African American	~21k	1 in 120	1 in 3,000
East Asian	~20k	1 in 240	1 in 610
Ashkenazi Jewish	~13k	1 in 360	≈ 1 in 12,000
Middle Eastern	~2,758	1 in 300	1 in 360

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.