NXPE4

Chr 11

neurexophilin and PC-esterase domain family member 4

Also known as: C11orf33, FAM55D

NCBI Gene: 54827 ENSG00000137634 UniProt: Q6UWF7 OMIM: 618133

Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.58

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.58LOEUF

pLI 0.000

Z-score -0.45

OE 1.11 (0.79–1.58)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.11Z-score

OE missense 1.02 (0.92–1.12)

289 obs / 284.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.11 (0.79–1.58)

0≤0.351.4

Missense OE?1.02 (0.92–1.12)

0≤0.61.4

Synonymous OE?1.06

0≤1.21.6

LoF obs/exp: 22 / 19.8Missense obs/exp: 289 / 284.0Syn Z: -0.49

Background carrier burden — how many people carry a rare variant somewhere in NXPE4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 68

742 rare PASS variants

Rare truncating (LoF)

1 in 1,300

115 rare PASS variants

Rare synonymous (reference)

1 in 150

266 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for NXPE4. 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 130	1 in 1,700
South Asian	~43k	1 in 77	1 in 570
Remaining (unassigned)	~30k	1 in 41	1 in 1,800
European (Finnish)	~27k	1 in 680	1 in 3,800
Admixed American	~22k	1 in 53	1 in 1,100
African / African American	~21k	1 in 66	1 in 410
East Asian	~20k	1 in 73	1 in 790
Ashkenazi Jewish	~13k	1 in 170	1 in 620
Middle Eastern	~2,884	1 in 52	≈ 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): 4 of 5 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 5.? see exons ↓