FAM76B

Chr 11

family with sequence similarity 76 member B

NCBI Gene: 143684 ENSG00000077458 UniProt: Q5HYJ3

Predicted to enable RNA binding activity. Involved in several processes, including mRNA stabilization; negative regulation of macrophage activation; and negative regulation of protein export from nucleus. Located in nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in FAM76B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 270

416 rare PASS variants

Rare truncating (LoF)

1 in 8,300

46 rare PASS variants

Rare synonymous (reference)

1 in 330

123 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FAM76B. 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 330	1 in 8,500
South Asian	~43k	1 in 190	≈ 1 in 14,000
Remaining (unassigned)	~30k	1 in 260	≈ 1 in 7,500
European (Finnish)	~27k	1 in 440	≈ 1 in 13,000
Admixed American	~22k	1 in 210	≈ 1 in 5,300
African / African American	~21k	1 in 160	≈ 1 in 9,000
East Asian	~20k	1 in 120	≈ 1 in 6,500
Ashkenazi Jewish	~13k	1 in 1,400	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 410	≈ 1 in 2,900

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): 9 of 10 coding exons well covered in gnomAD exomes; exon 9 marginal. Genomes: all 10.? see exons ↓