ST8SIA3
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3, the group of Sialyltransferases
Basic information
Region (hg38): 18:57352557-57371731
Previous symbols: [ "SIAT8C" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ST8SIA3 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 17 | 17 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 17 | 0 | 0 |
Variants in ST8SIA3
This is a list of pathogenic ClinVar variants found in the ST8SIA3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 18-57352869-G-A | not specified | Uncertain significance (Apr 28, 2022) | ||
| 18-57352874-G-A | not specified | Uncertain significance (Nov 21, 2023) | ||
| 18-57352896-T-C | not specified | Uncertain significance (Oct 08, 2024) | ||
| 18-57352931-A-T | not specified | Uncertain significance (Jan 22, 2024) | ||
| 18-57352958-A-G | not specified | Uncertain significance (Nov 17, 2023) | ||
| 18-57352991-G-C | not specified | Uncertain significance (Nov 12, 2024) | ||
| 18-57353021-T-C | not specified | Uncertain significance (Jan 10, 2023) | ||
| 18-57354442-C-G | not specified | Uncertain significance (Feb 17, 2022) | ||
| 18-57354515-T-C | not specified | Uncertain significance (Jan 17, 2025) | ||
| 18-57356974-C-T | not specified | Uncertain significance (Apr 18, 2023) | ||
| 18-57356989-A-G | not specified | Uncertain significance (Dec 25, 2024) | ||
| 18-57357043-C-T | not specified | Uncertain significance (Oct 06, 2021) | ||
| 18-57357044-G-A | not specified | Uncertain significance (Sep 10, 2024) | ||
| 18-57357047-C-T | not specified | Uncertain significance (Dec 19, 2023) | ||
| 18-57357090-T-A | not specified | Uncertain significance (Dec 28, 2024) | ||
| 18-57357098-C-T | not specified | Uncertain significance (Dec 21, 2023) | ||
| 18-57357310-A-G | not specified | Uncertain significance (Jan 23, 2024) | ||
| 18-57357328-G-A | not specified | Uncertain significance (Jul 05, 2024) | ||
| 18-57357352-T-C | not specified | Uncertain significance (Dec 20, 2023) | ||
| 18-57357434-T-C | not specified | Uncertain significance (Mar 01, 2025) | ||
| 18-57360180-A-G | not specified | Uncertain significance (Mar 21, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ST8SIA3 | protein_coding | protein_coding | ENST00000324000 | 4 | 20919 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.859 | 0.141 | 125738 | 0 | 8 | 125746 | 0.0000318 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.47 | 150 | 210 | 0.714 | 0.0000105 | 2504 |
| Missense in Polyphen | 35 | 69.738 | 0.50188 | 835 | ||
| Synonymous | 0.173 | 79 | 81.0 | 0.976 | 0.00000411 | 724 |
| Loss of Function | 3.14 | 2 | 15.2 | 0.132 | 7.00e-7 | 187 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000289 | 0.0000289 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000353 | 0.0000352 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000163 | 0.0000653 |
| Other | 0.000164 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto the terminal sialic acid of an acceptor through alpha-2,8-linkages. Is active with alpha-2,3-linked, alpha-2,6-linked and alpha-2,8-linked sialic acid of N-linked oligosaccharides of glycoproteins and glycolipids. Displays preference for substrates with alpha-2,3-linked terminal sialic acid. It can form polysialic acid in vitro directly on alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid. {ECO:0000269|PubMed:10766765, ECO:0000269|PubMed:26192331, ECO:0000269|PubMed:9826427}.;
- Pathway
- Ganglio Sphingolipid Metabolism;Post-translational protein modification;N-Glycan antennae elongation;N-glycan antennae elongation in the medial/trans-Golgi;Metabolism of proteins;Sialic acid metabolism;Synthesis of substrates in N-glycan biosythesis;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation
(Consensus)
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- loftool
- 0.105
- rvis_EVS
- -0.29
- rvis_percentile_EVS
- 32.94
Haploinsufficiency Scores
- pHI
- 0.479
- hipred
- Y
- hipred_score
- 0.837
- ghis
- 0.573
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.476
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- St8sia3
- Phenotype
Zebrafish Information Network
- Gene name
- st8sia3
- Affected structure
- motor neuron
- Phenotype tag
- abnormal
- Phenotype quality
- defasciculated
Gene ontology
- Biological process
- ganglioside biosynthetic process;protein glycosylation;N-glycan processing;glycosphingolipid biosynthetic process;glycoprotein metabolic process;oligosaccharide metabolic process;protein sialylation
- Cellular component
- Golgi membrane;integral component of membrane
- Molecular function
- alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;sialyltransferase activity;sialic acid binding;identical protein binding