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ST6GALNAC4-ST6GALNAC6-AK1

Chr 9

ST6GALNAC4-ST6GALNAC6-AK1 readthrough

NCBI Gene: 123987602

This locus represents a naturally occurring readthrough transcript spanning the ST6GALNAC4, ST6GALNAC6, and AK1 genes that is subject to nonsense-mediated mRNA decay and does not produce a functional protein product. No disease associations have been established for mutations affecting this readthrough transcript.

ResearchSummary from RefSeq
Clinical Summary— ST6GALNAC4-ST6GALNAC6-AK1
📋
ClinVar Variants
3 unique Pathogenic / Likely Pathogenic· 51 VUS of 100 total submissions
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ST6GALNAC4-ST6GALNAC6-AK1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

100 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1
Likely Pathogenic2
VUS51
Likely Benign14
Conflicting2
1
Pathogenic
2
Likely Pathogenic
51
VUS
14
Likely Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
1
0
1
Likely Pathogenic
2
0
0
0
2
VUS
0
51
0
0
51
Likely Benign
0
3
5
6
14
Benign
0
0
0
0
0
Conflicting
—2
Total2546670

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

View in ClinVar →

Protein Context — Lollipop Plot

ST6GALNAC4-ST6GALNAC6-AK1 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 2 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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