TRAPPC9

Chr 8AR

trafficking protein particle complex subunit 9

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

NCBI Gene: 83696ENSG00000167632UniProt: Q96Q05

The protein encoded by this gene localizes to the Golgi apparatus and cis-Golgi network and likely functions in NF-kappa-B signaling. Mutations cause autosomal recessive intellectual developmental disorder (type 13). The inheritance pattern is autosomal recessive.

Summary from RefSeq, OMIM, UniProt
Research Assistant →

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal recessive 13MIM #613192
AR
1
Active trials
3
Pubs (1 yr)
17
P/LP submissions
0%
P/LP missense
0.73
LOEUF
LOF
Mechanism· G2P
Clinical Summary— TRAPPC9
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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.
📋
ClinVar Variants
17 unique Pathogenic / Likely Pathogenic· 71 VUS of 200 total submissions
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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 OE0.55 (0.41–0.73)
0≤0.351.4
Missense OE0.85 (0.79–0.91)
0≤0.61.4
Synonymous OE1.12
0≤1.21.6
LoF obs/exp: 32 / 58.7Missense obs/exp: 626 / 739.2Syn Z: -1.64

ClinVar Variant Classifications

200 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic6
VUS71
Likely Benign80
11
Pathogenic
6
Likely Pathogenic
71
VUS
80
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
0
9
0
11
Likely Pathogenic
3
0
3
0
6
VUS
0
68
3
0
71
Likely Benign
0
3
37
40
80
Benign
0
0
0
0
0
Total5715240168

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

View in 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.

Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
Kharrat M et al.·J Hum Genet
2024Case report
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability.
Aslanger AD et al.·J Hum Genet
2022
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
Penon-Portmann M et al.·Am J Med Genet A
2023Case report
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H et al.·Brain
2024
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
Ben Ayed I et al.·Eur J Med Genet
2021
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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