DCST1

Chr 1

DC-STAMP domain containing 1

Also known as: SNKY, SPE49

NCBI Gene: 149095ENSG00000163357UniProt: Q5T197OMIM: 619860

This gene encodes a protein with a domain similar to one found in dendritic cells (PMID:11169400) which play a key role in antigen processing and display for immune responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

OMIMResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.11
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.11LOEUF
pLI 0.000
Z-score 0.98
OE 0.83 (0.63–1.11)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.44Z-score
OE missense 0.94 (0.86–1.02)
400 obs / 425.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.83 (0.63–1.11)
0≤0.351.4
Missense OE?0.94 (0.86–1.02)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 33 / 39.6Missense obs/exp: 400 / 425.5Syn Z: 0.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DCST1 · 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