FAM86B1

Chr 8

family with sequence similarity 86 member B1 (gene/pseudogene)

NCBI Gene: 85002 ENSG00000186523 UniProt: Q8N7N1 OMIM: 616122

The protein is predicted to function as a protein-lysine N-methyltransferase involved in methylation processes. This gene is not well-constrained against loss-of-function variants and currently lacks established associations with human disease. Further research is needed to determine if FAM86B1 mutations cause neurological or developmental disorders.

OMIM ResearchSummary from RefSeq

Predicted to enable protein-lysine N-methyltransferase activity. Predicted to be involved in methylation. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.84

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.84LOEUF

pLI 0.000

Z-score -0.49

OE 1.19 (0.71–1.84)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-2.17Z-score

OE missense 1.59 (1.41–1.81)

169 obs / 106.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.19 (0.71–1.84)

0≤0.351.4

Missense OE?1.59 (1.41–1.81)

0≤0.61.4

Synonymous OE?1.37

0≤1.21.6

LoF obs/exp: 9 / 7.5Missense obs/exp: 169 / 106.0Syn Z: -1.97

Background carrier burden — how many people carry a rare variant somewhere in FAM86B1?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

58 rare PASS variants

Rare truncating (LoF)

1 in 390

23 rare PASS variants

Rare synonymous (reference)

1 in 540

16 rare PASS variants

Rare missense and truncating variants are carried at similar rates in FAM86B1; 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)	~556k	1 in 200	1 in 590
South Asian	~43k	1 in 130	≈ 1 in 10,000
Remaining (unassigned)	~30k	1 in 160	1 in 350
European (Finnish)	~27k	1 in 300	1 in 5,300
Admixed American	~22k	1 in 110	1 in 820
African / African American	~21k	1 in 550	≈ 1 in 5,000
East Asian	~20k	1 in 130	1 in 1,800
Ashkenazi Jewish	~13k	1 in 190	1 in 1,200
Middle Eastern	~2,611	none seen	≈ 1 in 900

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): 2 of 7 coding exons well covered in gnomAD exomes; exons 2, 3, 4, 7 poorly covered; exon 1 marginal. Genomes: 0 of 7 (exons 1, 2, 3, 4, 5 and 2 more below).? see exons ↓