CPB1

Chr 3

carboxypeptidase B1

Also known as: CPB, PASP, PCPB

NCBI Gene: 1360 ENSG00000153002 UniProt: P15086 OMIM: 114852

Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not elevated in pancreatic carcinoma. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.63

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.63LOEUF

pLI 0.000

Z-score -0.96

OE 1.21 (0.90–1.63)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.34Z-score

OE missense 0.94 (0.84–1.05)

229 obs / 243.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.21 (0.90–1.63)

0≤0.351.4

Missense OE?0.94 (0.84–1.05)

0≤0.61.4

Synonymous OE?0.99

0≤1.21.6

LoF obs/exp: 30 / 24.8Missense obs/exp: 229 / 243.8Syn Z: 0.04

Background carrier burden — how many people carry a rare variant somewhere in CPB1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 86

530 rare PASS variants

Rare truncating (LoF)

1 in 730

110 rare PASS variants

Rare synonymous (reference)

1 in 360

197 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CPB1. 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 160	1 in 860
South Asian	~43k	1 in 93	1 in 980
Remaining (unassigned)	~30k	1 in 90	1 in 530
European (Finnish)	~27k	1 in 170	1 in 3,000
Admixed American	~22k	1 in 75	1 in 930
African / African American	~21k	1 in 72	1 in 430
East Asian	~20k	1 in 98	1 in 2,000
Ashkenazi Jewish	~13k	1 in 290	≈ 1 in 4,400
Middle Eastern	~2,884	1 in 78	1 in 290

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): All 11 coding exons well covered in gnomAD exomes and genomes.? see exons ↓