TRAF3IP1

Chr 2AR

intraflagellar transport 54

Also known as: CFAP116, FAP116, MIP-T3, MIPT3, SLSN9, TRAF3IP1

The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndrome 9. [provided by RefSeq, Mar 2017]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Senior-Loken syndrome 9MIM #616629
AR

Clinical highlights

Gene-disease validity (ClinGen)
ciliopathy · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
0.74
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.000
Z-score 2.83
OE 0.50 (0.350.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.33Z-score
OE missense 0.95 (0.871.04)
346 obs / 363.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.350.74)
00.351.4
Missense OE?0.95 (0.871.04)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 19 / 37.8Missense obs/exp: 346 / 363.6Syn Z: -0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TRAF3IP1 · 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.

Search ClinicalTrials.gov →