FYTTD1

Chr 3

forty-two-three domain containing 1

Also known as: UIF

NCBI Gene: 84248 ENSG00000122068 UniProt: Q96QD9 OMIM: 616933

Enables mRNA binding activity. Involved in mRNA export from nucleus. Located in nuclear speck. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

Enables mRNA binding activity. Involved in mRNA export from nucleus. Located in nuclear speck. [provided by Alliance of Genome Resources, Jun 2026]

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

0.51

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.51LOEUF

pLI 0.395

Z-score 3.06

OE 0.22 (0.11–0.51)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.61Z-score

OE missense 0.87 (0.76–1.00)

152 obs / 174.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.22 (0.11–0.51)

0≤0.351.4

Missense OE?0.87 (0.76–1.00)

0≤0.61.4

Synonymous OE?0.86

0≤1.21.6

LoF obs/exp: 4 / 18.1Missense obs/exp: 152 / 174.6Syn Z: 0.86

Background carrier burden — how many people carry a rare variant somewhere in FYTTD1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 170

385 rare PASS variants

Rare truncating (LoF)

1 in 3,500

47 rare PASS variants

Rare synonymous (reference)

1 in 300

152 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FYTTD1. 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 360	1 in 3,800
South Asian	~43k	1 in 190	≈ 1 in 11,000
Remaining (unassigned)	~30k	1 in 230	1 in 3,700
European (Finnish)	~27k	1 in 720	none seen
Admixed American	~22k	1 in 160	1 in 3,000
African / African American	~21k	1 in 160	≈ 1 in 9,100
East Asian	~20k	1 in 140	1 in 520
Ashkenazi Jewish	~13k	1 in 1,400	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 180	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): 6 of 9 coding exons well covered in gnomAD exomes; exons 4, 5, 7 marginal. Genomes: all 9.? see exons ↓