FAM27B

Chr 9

family with sequence similarity 27 member B

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.

LOEUF 1.94
Clinical SummaryFAM27B
Population Constraint (gnomAD)
Low constraint (pLI 0.06) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.94LOEUF
pLI 0.061
Z-score -1.32
OE 3.77 (0.391.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.31Z-score
OE missense 1.43 (0.731.92)
6 obs / 4.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE3.77 (0.391.94)
00.351.4
Missense OE1.43 (0.731.92)
00.61.4
Synonymous OE2.16
01.21.6
LoF obs/exp: 1 / 0.3Missense obs/exp: 6 / 4.2Syn Z: -1.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FAM27B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found