WRAP73

Chr 1

WD repeat containing, antisense to TP73

Also known as: WDR8

NCBI Gene: 49856ENSG00000116213UniProt: Q9P2S5

The protein regulates spindle anchoring at mitotic centrosomes, is required for centriole satellite protein targeting to centrosomes, and plays an essential role in ciliogenesis by facilitating ciliary vesicle docking at the basal body. Mutations cause autosomal recessive primary ciliary dyskinesia with early-onset respiratory symptoms, reflecting dysfunction of the ciliary machinery critical for airway clearance. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
0
Pubs (1 yr)
95
P/LP submissions
0%
P/LP missense
0.80
LOEUF
DN
Mechanism· predicted
Clinical Summary— WRAP73
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
90 unique Pathogenic / Likely Pathogenic· 107 VUS of 220 total submissions
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
0.80LOEUF
pLI 0.000
Z-score 2.38
OE 0.51 (0.34–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.01Z-score
OE missense 1.00 (0.91–1.10)
291 obs / 291.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.51 (0.34–0.80)
0≤0.351.4
Missense OE1.00 (0.91–1.10)
0≤0.61.4
Synonymous OE1.08
0≤1.21.6
LoF obs/exp: 14 / 27.4Missense obs/exp: 291 / 291.3Syn Z: -0.75
DN
0.6840th %ile
GOF
0.5758th %ile
LOF
0.3549th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

220 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic88
Likely Pathogenic2
VUS107
Likely Benign4
Benign1
88
Pathogenic
2
Likely Pathogenic
107
VUS
4
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
88
0
88
Likely Pathogenic
0
0
2
0
2
VUS
0
93
14
0
107
Likely Benign
0
3
0
1
4
Benign
0
0
1
0
1
Total0961051202

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

View in ClinVar →

Protein Context — Lollipop Plot

WRAP73 · 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.

Search ClinicalTrials.gov →
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 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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