TRAPPC9

Chr 8AR

trafficking protein particle complex subunit 9

Also known as: IBP, IKBKBBP, MRT13, NIBP, T1, TRS120

NCBI Gene: 83696ENSG00000167632UniProt: Q96Q05OMIM: 611966

This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.731 OMIM phenotype
Clinical Summary— TRAPPC9
🧬
Gene-Disease Validity (ClinGen)
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.73LOEUF
pLI 0.000
Z-score 3.23
OE 0.55 (0.41–0.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.48Z-score
OE missense 0.85 (0.79–0.91)
626 obs / 739.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.41–0.73)
0≤0.351.4
Missense OE?0.85 (0.79–0.91)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 32 / 58.7Missense obs/exp: 626 / 739.2Syn Z: -1.64

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TRAPPC9 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients