ST8SIA6
Basic information
Region (hg38): 10:17315421-17454595
Previous symbols: [ "SIAT8F" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (37 variants)
- Prostate_cancer (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ST8SIA6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001004470.3. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 37 | 38 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 37 | 1 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ST8SIA6 | protein_coding | protein_coding | ENST00000377602 | 8 | 135948 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 7.16e-10 | 0.0756 | 125719 | 0 | 28 | 125747 | 0.000111 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.431 | 199 | 183 | 1.09 | 0.00000927 | 2589 |
| Missense in Polyphen | 70 | 66.272 | 1.0563 | 842 | ||
| Synonymous | -1.15 | 86 | 73.5 | 1.17 | 0.00000429 | 771 |
| Loss of Function | -0.0297 | 14 | 13.9 | 1.01 | 5.86e-7 | 208 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000211 | 0.000211 |
| Ashkenazi Jewish | 0.000104 | 0.0000992 |
| East Asian | 0.000225 | 0.000217 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000725 | 0.0000703 |
| Middle Eastern | 0.000225 | 0.000217 |
| South Asian | 0.000338 | 0.000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Prefers O-glycans to N-glycans or glycolipids as acceptor substrates. The minimal acceptor substrate is the NeuAc- alpha-2,3(6)-Gal sequence at the non-reducing end of their carbohydrate groups (By similarity). {ECO:0000250}.;
- Pathway
- 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
- 0.115
Intolerance Scores
- loftool
- 0.859
- rvis_EVS
- 0.2
- rvis_percentile_EVS
- 67.19
Haploinsufficiency Scores
- pHI
- 0.0743
- hipred
- N
- hipred_score
- 0.264
- ghis
- 0.384
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.317
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- St8sia6
- Phenotype
Zebrafish Information Network
- Gene name
- st8sia6
- Affected structure
- olfactory bulb glomerulus
- Phenotype tag
- abnormal
- Phenotype quality
- aplastic/hypoplastic
Gene ontology
- Biological process
- ganglioside biosynthetic process;blastocyst hatching;protein O-linked glycosylation;glycoprotein metabolic process;glycolipid biosynthetic process;oligosaccharide metabolic process;carbohydrate biosynthetic process;sialylation
- Cellular component
- Golgi membrane;integral component of membrane
- Molecular function
- alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;sialyltransferase activity