TRAPPC14

Chr 7AR

trafficking protein particle complex subunit 14

Also known as: C7orf43, MAP11, MCPH25

Enables alpha-tubulin binding activity. Involved in cilium assembly and regulation of cell population proliferation. Located in several cellular components, including microtubule cytoskeleton; midbody; and plasma membrane. Part of TRAPPII protein complex. Implicated in primary autosomal recessive microcephaly 25. [provided by Alliance of Genome Resources, Apr 2025]

OMIMResearchGenerating clinical summary…
ARLOEUF 0.491 OMIM phenotype
Clinical SummaryTRAPPC14
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.
📋
ClinVar Variants
1 unique Pathogenic / Likely Pathogenic· 3 VUS of 26 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.49LOEUF
pLI 0.181
Z-score 3.40
OE 0.25 (0.140.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.21Z-score
OE missense 0.65 (0.580.73)
205 obs / 315.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.25 (0.140.49)
00.351.4
Missense OE?0.65 (0.580.73)
00.61.4
Synonymous OE?1.12
01.21.6
LoF obs/exp: 6 / 24.0Missense obs/exp: 205 / 315.8Syn Z: -1.09

ClinVar Variant Classifications

26 submitted variants in ClinVar

Classification Summary

Pathogenic1
VUS3
Likely Benign6
Benign2
1
Pathogenic
3
VUS
6
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
0
0
1
Likely Pathogenic
0
0
0
0
0
VUS
0
3
0
0
3
Likely Benign
0
2
1
3
6
Benign
0
0
1
1
2
Total152412

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

View in ClinVar →

22 pathogenic / likely-pathogenic (of 31) ClinVar copy-number / structural variants overlap TRAPPC14 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

TRAPPC14 · 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 →