GPR75-ASB3

Chr 2

GPR75-ASB3 readthrough

NCBI Gene: 100302652

This locus encodes a read-through transcript that produces a protein with a novel N-terminus but otherwise identical to ASB3, which functions in protein ubiquitination and degradation pathways. The gene shows very low constraint against loss-of-function variants (pLI near zero), and no definitive disease associations have been established for pathogenic variants in this read-through transcript. Further research is needed to determine if mutations in GPR75-ASB3 cause distinct clinical phenotypes compared to isolated ASB3 variants.

Summary from RefSeq
Research Assistant →
0
Active trials
1
Pubs (1 yr)
14
P/LP submissions
29%
P/LP missense
0.90
LOEUF
—
Mechanism
Clinical Summary— GPR75-ASB3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
14 unique Pathogenic / Likely Pathogenic· 216 VUS of 285 total submissions
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/GPR75-ASB3?content-type=application/json&expand=1

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.90LOEUF
pLI 0.000
Z-score 1.95
OE 0.58 (0.39–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.27Z-score
OE missense 1.04 (0.95–1.15)
311 obs / 298.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.58 (0.39–0.90)
0≤0.351.4
Missense OE1.04 (0.95–1.15)
0≤0.61.4
Synonymous OE1.19
0≤1.21.6
LoF obs/exp: 15 / 25.7Missense obs/exp: 311 / 298.1Syn Z: -1.56

ClinVar Variant Classifications

285 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
Likely Pathogenic5
VUS216
Likely Benign14
Benign7
9
Pathogenic
5
Likely Pathogenic
216
VUS
14
Likely Benign
7
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
9
0
9
Likely Pathogenic
0
4
1
0
5
VUS
0
213
3
0
216
Likely Benign
0
5
4
5
14
Benign
0
4
1
2
7
Total0226187251

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

View in ClinVar →

Protein Context — Lollipop Plot

GPR75-ASB3 · 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 →

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