IFFO1

Chr 12

intermediate filament family orphan 1

Also known as: HOM-TES-103, IFFO

This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the members of this gene family are evolutionarily and structurally related but have limited sequence homology, with the exception of the central rod domain. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

ResearchGenerating clinical summary…
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
0.69
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.69LOEUF
pLI 0.000
Z-score 2.75
OE 0.42 (0.260.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.97Z-score
OE missense 0.85 (0.770.94)
291 obs / 341.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.260.69)
00.351.4
Missense OE?0.85 (0.770.94)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 11 / 26.2Missense obs/exp: 291 / 341.7Syn Z: 0.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IFFO1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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