TRAPPC11

Chr 4AR

trafficking protein particle complex subunit 11

Also known as: C4orf41, FOIGR, GRY, LGMD2S, LGMDR18

NCBI Gene: 60684 ENSG00000168538 UniProt: Q7Z392 OMIM: 614138

The protein is a subunit of the TRAPP tethering complex that mediates vesicle trafficking from the endoplasmic reticulum to the Golgi apparatus. Mutations cause autosomal recessive limb-girdle muscular dystrophy type 18 through disruption of intracellular vesicle transport.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.571 OMIM phenotype

Clinical Summary— TRAPPC11

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Gene-Disease Validity (ClinGen)

autosomal recessive limb-girdle muscular dystrophy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

75 unique Pathogenic / Likely Pathogenic· 465 VUS of 1104 total submissions

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Clinical Trials

2 active or recruiting trials — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

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GeneReview available — TRAPPC11

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.57LOEUF

pLI 0.000

Z-score 4.46

OE 0.41 (0.31–0.57)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.93Z-score

OE missense 0.89 (0.83–0.96)

534 obs / 598.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.41 (0.31–0.57)

0≤0.351.4

Missense OE?0.89 (0.83–0.96)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 28 / 67.5Missense obs/exp: 534 / 598.2Syn Z: 0.53

ClinVar Variant Classifications

1104 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic37

Likely Pathogenic38

VUS465

Likely Benign429

Benign94

Conflicting24

Pathogenic

Likely Pathogenic

465

VUS

429

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	31	0	6	0	37
Likely Pathogenic	34	3	1	0	38
VUS	5	422	29	9	465
Likely Benign	0	14	189	226	429
Benign	0	5	85	4	94
Conflicting	—				24
Total	70	444	310	239	1,087

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

View in ClinVar →

102 pathogenic / likely-pathogenic (of 114) ClinVar copy-number / structural variants overlap TRAPPC11 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →