FAM47E

Chr 4

family with sequence similarity 47 member E

NCBI Gene: 100129583 ENSG00000189157 UniProt: Q6ZV65

The FAM47E protein promotes histone methylation by localizing the arginine methyltransferase PRMT5 to chromatin and is involved in transcription initiation-coupled chromatin remodeling. Based on current databases, no definitive disease associations have been established for pathogenic variants in this gene. The gene shows relatively low constraint against loss-of-function variants (pLI = 0.002, LOEUF = 0.85), suggesting it may tolerate some functional disruption.

ResearchSummary from RefSeq, UniProt

Enables enzyme activator activity. Involved in protein localization to chromatin and transcription initiation-coupled chromatin remodeling. Located in chromatin; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.85

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.85LOEUF

pLI 0.002

Z-score 1.99

OE 0.45 (0.26–0.85)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.84Z-score

OE missense 0.63 (0.55–0.73)

127 obs / 200.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.45 (0.26–0.85)

0≤0.351.4

Missense OE?0.63 (0.55–0.73)

0≤0.61.4

Synonymous OE?0.83

0≤1.21.6

LoF obs/exp: 7 / 15.4Missense obs/exp: 127 / 200.3Syn Z: 1.20

Background carrier burden — how many people carry a rare variant somewhere in FAM47E?

gnomAD v4 · ~700k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

541 rare PASS variants

Rare truncating (LoF)

1 in 340

107 rare PASS variants

Rare synonymous (reference)

1 in 130

229 rare PASS variants

Rare missense and truncating variants are carried at similar rates in FAM47E; 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)	~540k	1 in 150	1 in 430
South Asian	~40k	1 in 96	1 in 620
Remaining (unassigned)	~29k	1 in 85	1 in 740
European (Finnish)	~25k	1 in 430	≈ 1 in 5,200
African / African American	~21k	1 in 100	1 in 380
East Asian	~18k	1 in 120	1 in 270
Admixed American	~18k	1 in 100	1 in 210
Ashkenazi Jewish	~13k	1 in 370	1 in 1,000
Middle Eastern	~2,852	1 in 84	1 in 140

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): 5 of 8 coding exons well covered in gnomAD exomes; exons 1, 7, 8 marginal. Genomes: all 8.? see exons ↓