FAM27B

Chr 9

family with sequence similarity 27 member B

Also known as: FAM27A2

NCBI Gene: 100133121 ENSG00000278763 UniProt: Q5VT28

FAM27B encodes a protein of unknown function that is part of a gene family with multiple copies in the human genome. The gene shows low constraint against loss-of-function variants (pLI 0.06, LOEUF 1.94), and no established human disease associations have been reported in the medical literature. No definitive inheritance pattern or clinical phenotype has been characterized for this gene.

Research

ResearchGenerating clinical summary…

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.94

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.94LOEUF

pLI 0.061

Z-score -1.32

OE 3.77 (0.39–1.94)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.31Z-score

OE missense 1.43 (0.73–1.92)

6 obs / 4.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?3.77 (0.39–1.94)

0≤0.351.4

Missense OE?1.43 (0.73–1.92)

0≤0.61.4

Synonymous OE?2.16

0≤1.21.6

LoF obs/exp: 1 / 0.3Missense obs/exp: 6 / 4.2Syn Z: -1.24

Background carrier burden — how many people carry a rare variant somewhere in FAM27B?

gnomAD v4 · ~0k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

none observed

0 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in FAM27B; 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.