ST6GAL1

Chr 3

ST6 beta-galactoside alpha-2,6-sialyltransferase 1

Also known as: CDw75, SIAT1, ST6GalI, ST6N

NCBI Gene: 6480 ENSG00000073849 UniProt: P15907 OMIM: 109675

This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 0.57

Clinical Summary— ST6GAL1

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.

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ClinVar Variants

26 VUS of 38 total submissions

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Clinical Trials

2 active or recruiting trials — potential therapeutic options may be available

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.57LOEUF

pLI 0.234

Z-score 2.78

OE 0.25 (0.12–0.57)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.15Z-score

OE missense 0.78 (0.69–0.89)

177 obs / 225.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.25 (0.12–0.57)

0≤0.351.4

Missense OE?0.78 (0.69–0.89)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 4 / 16.0Missense obs/exp: 177 / 225.7Syn Z: 0.43

ClinVar Variant Classifications

38 submitted variants in ClinVar

ClinVar

Classification Summary

VUS26

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	26	26
Likely Benign	0	0
Benign	0	0
Total	26	26

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

View in ClinVar →

42 pathogenic / likely-pathogenic (of 48) ClinVar copy-number / structural variants overlap ST6GAL1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →