TRAPPC12

Chr 2AR

trafficking protein particle complex subunit 12

Also known as: CGI-87, PEBAS, TTC-15, TTC15

NCBI Gene: 51112ENSG00000171853UniProt: Q8WVT3OMIM: 614139

The TRAPPC12 protein functions in endoplasmic reticulum to Golgi vesicle-mediated transport as part of the TRAPP complex and regulates kinetochore assembly during cell division. Autosomal recessive mutations cause progressive, early-onset encephalopathy with brain atrophy and spasticity. The pathogenic mechanism likely involves disrupted intracellular trafficking and cell division processes essential for normal brain development and function.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 1.191 OMIM phenotype
Clinical Summary— TRAPPC12
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
52 unique Pathogenic / Likely Pathogenic· 223 VUS of 423 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.19LOEUF
pLI 0.000
Z-score 0.71
OE 0.86 (0.63–1.19)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.16Z-score
OE missense 0.98 (0.91–1.06)
457 obs / 466.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.86 (0.63–1.19)
0≤0.351.4
Missense OE0.98 (0.91–1.06)
0≤0.61.4
Synonymous OE0.97
0≤1.21.6
LoF obs/exp: 26 / 30.2Missense obs/exp: 457 / 466.7Syn Z: 0.37

ClinVar Variant Classifications

423 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic36
Likely Pathogenic16
VUS223
Likely Benign88
Benign29
Conflicting7
36
Pathogenic
16
Likely Pathogenic
223
VUS
88
Likely Benign
29
Benign
7
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
8
0
28
0
36
Likely Pathogenic
13
1
2
0
16
VUS
5
191
26
1
223
Likely Benign
0
14
24
50
88
Benign
0
5
8
16
29
Conflicting
—7
Total262118867399

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

View in ClinVar →

Protein Context — Lollipop Plot

TRAPPC12 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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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
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