DPY19L1

Chr 7

dpy-19 like C-mannosyltransferase 1

NCBI Gene: 23333ENSG00000173852UniProt: Q2PZI1

Predicted to enable mannosyltransferase activity. Predicted to be involved in protein glycosylation. Located in membrane. [provided by Alliance of Genome Resources, Apr 2025]

0
Active trials
19
Pathogenic / LP
101
ClinVar variants
1
Pubs (1 yr)
1.4
Missense Z
0.56
LOEUF
Clinical Summary— DPY19L1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
19 Pathogenic / Likely Pathogenic· 80 VUS of 101 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.56LOEUF
pLI 0.000
Z-score 3.75
OE 0.36 (0.23–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.38Z-score
OE missense 0.78 (0.70–0.87)
246 obs / 314.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.36 (0.23–0.56)
0≤0.351.4
Missense OE0.78 (0.70–0.87)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 14 / 39.4Missense obs/exp: 246 / 314.9Syn Z: 0.54
DN
DN
0.6743th %ile
GOF
0.6151th %ile
LOF
0.3066th %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

101 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic16
Likely Pathogenic3
VUS80
Likely Benign2
16
Pathogenic
3
Likely Pathogenic
80
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
16
0
16
Likely Pathogenic
0
0
3
0
3
VUS
0
74
6
0
80
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total076250101

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

View in ClinVar →

DPY19L1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
The C-Mannosylome of Human Induced Pluripotent Stem Cells Implies a Role for ADAMTS16 C-Mannosylation in Eye Development
Cirksena K et al.·Mol Cell Proteomics
2021
Detection of candidate genes affecting milk production traits in sheep using whole-genome sequencing analysis
Rezvannejad E et al.·Vet Med Sci
2022
Analysis and Construction of a Competitive Endogenous RNA Regulatory Network of Baicalin-Induced Apoptosis in Human Osteosarcoma Cells
Lan H et al.·Biomed Res Int
2021
Severity of Idiopathic Scoliosis Is Associated with Differential Methylation: An Epigenome-Wide Association Study of Monozygotic Twins with Idiopathic Scoliosis
Carry PM et al.·Genes (Basel)
2021
Genetic Determinants of Leisure-Time Physical Activity in the Taiwanese Population: A Genome-Wide Association Study
Hsu LA et al.·Med Sci Sports Exerc
2025
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 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