ST8SIA6

Chr 10

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6

Also known as: SIA8F, SIAT8-F, SIAT8F, ST8SIA-VI, ST8SiaVI

NCBI Gene: 338596ENSG00000148488UniProt: P61647

This gene encodes a member of the glycosyltransferase 29 protein family. Members of this protein family synthesize sialylglycoconjugates. Sialylation may contribute to multidrug resistance in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.57
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.57LOEUF
pLI 0.000
Z-score -0.03
OE 1.01 (0.67–1.57)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.43Z-score
OE missense 1.09 (0.97–1.23)
199 obs / 182.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.01 (0.67–1.57)
0≤0.351.4
Missense OE?1.09 (0.97–1.23)
0≤0.61.4
Synonymous OE?1.17
0≤1.21.6
LoF obs/exp: 14 / 13.9Missense obs/exp: 199 / 182.6Syn Z: -1.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ST8SIA6 · 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