ZFAND6

Chr 15

zinc finger AN1-type containing 6

Also known as: AWP1, ZA20D3, ZFAND5B

NCBI Gene: 54469 ENSG00000086666 UniProt: Q6FIF0 OMIM: 610183

Predicted to enable polyubiquitin modification-dependent protein binding activity. Involved in cellular response to tumor necrosis factor; negative regulation of apoptotic process; and regulation of canonical NF-kappaB signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.63

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.63LOEUF

pLI 0.462

Z-score 2.34

OE 0.20 (0.08–0.63)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.99Z-score

OE missense 0.73 (0.61–0.88)

80 obs / 109.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.20 (0.08–0.63)

0≤0.351.4

Missense OE?0.73 (0.61–0.88)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 2 / 10.0Missense obs/exp: 80 / 109.0Syn Z: -0.41

Background carrier burden — how many people carry a rare variant somewhere in ZFAND6?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 210

297 rare PASS variants

Rare truncating (LoF)

1 in 1,200

48 rare PASS variants

Rare synonymous (reference)

1 in 430

114 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ZFAND6. 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 260	1 in 990
South Asian	~43k	1 in 190	1 in 1,700
Remaining (unassigned)	~30k	1 in 120	1 in 2,000
European (Finnish)	~27k	1 in 820	none seen
Admixed American	~22k	1 in 220	1 in 4,300
African / African American	~21k	1 in 200	1 in 790
East Asian	~20k	1 in 140	1 in 460
Ashkenazi Jewish	~13k	1 in 1,900	≈ 1 in 3,600
Middle Eastern	~2,882	1 in 410	none seen

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): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓