ST8SIA1
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1, the group of Sialyltransferases
Basic information
Region (hg38): 12:22063773-22437041
Previous symbols: [ "SIAT8", "SIAT8A" ]
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 ST8SIA1 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 | 1 | |||||
| missense | 10 | 10 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 10 | 1 | 0 |
Variants in ST8SIA1
This is a list of pathogenic ClinVar variants found in the ST8SIA1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 12-22065172-C-T | not specified | Likely benign (May 17, 2023) | ||
| 12-22065180-G-A | not specified | Uncertain significance (Aug 07, 2023) | ||
| 12-22065202-A-G | not specified | Uncertain significance (Jan 10, 2022) | ||
| 12-22065215-C-T | Benign/Likely benign (Oct 01, 2023) | |||
| 12-22201568-A-T | not specified | Uncertain significance (Oct 29, 2021) | ||
| 12-22201614-T-C | not specified | Uncertain significance (Apr 09, 2024) | ||
| 12-22201627-C-A | not specified | Uncertain significance (Mar 04, 2024) | ||
| 12-22201704-T-C | not specified | Uncertain significance (Oct 26, 2022) | ||
| 12-22201728-A-G | not specified | Uncertain significance (Mar 15, 2024) | ||
| 12-22201841-T-C | not specified | Uncertain significance (Aug 19, 2021) | ||
| 12-22201854-G-A | not specified | Uncertain significance (Mar 02, 2023) | ||
| 12-22201981-G-T | not specified | Uncertain significance (Apr 27, 2023) | ||
| 12-22249057-A-G | not specified | Uncertain significance (Nov 27, 2023) | ||
| 12-22255296-C-T | not specified | Uncertain significance (Oct 27, 2022) | ||
| 12-22287250-T-C | not specified | Uncertain significance (Jul 08, 2021) | ||
| 12-22325866-G-A | Likely benign (Sep 01, 2022) | |||
| 12-22334036-G-A | not specified | Uncertain significance (May 06, 2024) | ||
| 12-22334225-G-A | not specified | Uncertain significance (Jan 25, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ST8SIA1 | protein_coding | protein_coding | ENST00000396037 | 5 | 373269 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.493 | 0.506 | 125732 | 0 | 16 | 125748 | 0.0000636 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.16 | 156 | 202 | 0.771 | 0.0000100 | 2338 |
| Missense in Polyphen | 40 | 80.783 | 0.49515 | 989 | ||
| Synonymous | -0.0337 | 79 | 78.6 | 1.00 | 0.00000412 | 690 |
| Loss of Function | 2.83 | 3 | 14.7 | 0.204 | 6.66e-7 | 169 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000298 | 0.0000298 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000218 | 0.000217 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000442 | 0.0000439 |
| Middle Eastern | 0.000218 | 0.000217 |
| South Asian | 0.000196 | 0.000196 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in the production of gangliosides GD3 and GT3 from GM3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid. {ECO:0000269|PubMed:7937974, ECO:0000269|PubMed:8058740, ECO:0000269|PubMed:8195250, ECO:0000269|PubMed:8631981}.;
- Pathway
- Glycosphingolipid biosynthesis - ganglio series - Homo sapiens (human);Glycosphingolipid biosynthesis - globo and isoglobo series - Homo sapiens (human);Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human);Ganglio Sphingolipid Metabolism;Globo Sphingolipid Metabolism;Glycosphingolipid biosynthesis - neolactoseries;Post-translational protein modification;Metabolism of proteins;Glycosphingolipid biosynthesis - ganglioseries;Glycosphingolipid metabolism;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;Asparagine N-linked glycosylation
(Consensus)
Recessive Scores
- pRec
- 0.147
Intolerance Scores
- loftool
- 0.567
- rvis_EVS
- 0.11
- rvis_percentile_EVS
- 61.73
Haploinsufficiency Scores
- pHI
- 0.162
- hipred
- Y
- hipred_score
- 0.667
- ghis
- 0.513
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.213
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- St8sia1
- Phenotype
- nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; hematopoietic system phenotype;
Gene ontology
- Biological process
- carbohydrate metabolic process;protein glycosylation;glycosphingolipid biosynthetic process;positive regulation of cell population proliferation;cellular response to heat;sialylation
- Cellular component
- Golgi membrane;integral component of membrane
- Molecular function
- alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;sialyltransferase activity