SERPINI2

Chr 3

serpin family I member 2

Also known as: MEPI, PANCPIN, PI14, TSA2004

NCBI Gene: 5276 ENSG00000114204 UniProt: O75830

The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.53

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?

1.53LOEUF

pLI 0.000

Z-score -0.27

OE 1.06 (0.75–1.53)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.45Z-score

OE missense 0.91 (0.80–1.03)

177 obs / 194.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.06 (0.75–1.53)

0≤0.351.4

Missense OE?0.91 (0.80–1.03)

0≤0.61.4

Synonymous OE?0.81

0≤1.21.6

LoF obs/exp: 21 / 19.7Missense obs/exp: 177 / 194.8Syn Z: 1.22

Background carrier burden — how many people carry a rare variant somewhere in SERPINI2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

487 rare PASS variants

Rare truncating (LoF)

1 in 230

104 rare PASS variants

Rare synonymous (reference)

1 in 320

145 rare PASS variants

Rare missense and truncating variants are carried at similar rates in SERPINI2; 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)	~556k	1 in 180	1 in 200
South Asian	~43k	1 in 220	1 in 530
Remaining (unassigned)	~30k	1 in 140	1 in 290
European (Finnish)	~27k	1 in 720	1 in 990
Admixed American	~22k	1 in 140	1 in 380
African / African American	~21k	1 in 150	1 in 510
East Asian	~20k	1 in 140	1 in 340
Ashkenazi Jewish	~13k	1 in 280	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 160	≈ 1 in 1,400

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): 6 of 8 coding exons well covered in gnomAD exomes; exons 6, 9 marginal. Genomes: all 8.? see exons ↓