DYDC1

Chr 10

DPY30 domain containing 1

Also known as: DPY30D1

NCBI Gene: 143241ENSG00000170788UniProt: Q8WWB3OMIM: 615154

This gene encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

OMIMResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.20
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.20LOEUF
pLI 0.000
Z-score 1.11
OE 0.64 (0.36–1.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.21Z-score
OE missense 0.94 (0.78–1.13)
81 obs / 86.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.36–1.20)
0≤0.351.4
Missense OE?0.94 (0.78–1.13)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 7 / 11.0Missense obs/exp: 81 / 86.4Syn Z: 0.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DYDC1 · 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 →

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