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 cytosol; nuclear speck; and nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Enables mRNA binding activity. Involved in mRNA export from nucleus. Located in cytosol; nuclear speck; and nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.51

Clinical Summary— FYTTD1

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.

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ClinVar Variants

49 VUS of 68 total submissions

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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

ClinVar Variant Classifications

68 submitted variants in ClinVar

ClinVar

Classification Summary

VUS49

Likely Benign1

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	49	0	49
Likely Benign	0	1	1
Benign	0	0	0
Total	49	1	50

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

43 pathogenic / likely-pathogenic (of 65) ClinVar copy-number / structural variants overlap FYTTD1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →