NXPE1

Chr 11

neurexophilin and PC-esterase domain family member 1

Also known as: FAM55A

NCBI Gene: 120400 ENSG00000095110 UniProt: Q8N323

Enables N-acetylneuraminate 9-O-acetyltransferase activity. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Jun 2026]

Research

Enables N-acetylneuraminate 9-O-acetyltransferase activity. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.85

LOEUF

—

Mechanism

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?

1.85LOEUF

pLI 0.000

Z-score -1.01

OE 1.31 (0.88–1.85)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.34Z-score

OE missense 1.06 (0.96–1.19)

234 obs / 219.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.31 (0.88–1.85)

0≤0.351.4

Missense OE?1.06 (0.96–1.19)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 16 / 12.2Missense obs/exp: 234 / 219.9Syn Z: 0.30

Background carrier burden — how many people carry a rare variant somewhere in NXPE1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 55

728 rare PASS variants

Rare truncating (LoF)

1 in 680

107 rare PASS variants

Rare synonymous (reference)

1 in 180

235 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for NXPE1. 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 93	1 in 960
South Asian	~43k	1 in 75	1 in 510
Remaining (unassigned)	~30k	1 in 50	1 in 320
European (Finnish)	~27k	1 in 150	1 in 5,200
Admixed American	~22k	1 in 52	1 in 630
African / African American	~21k	1 in 66	1 in 270
East Asian	~20k	1 in 69	1 in 480
Ashkenazi Jewish	~13k	1 in 220	none seen
Middle Eastern	~2,884	1 in 56	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.

Exome coverage (gnomAD): 4 of 5 coding exons well covered in gnomAD exomes; exon 5 marginal. Genomes: all 5.? see exons ↓