ST8SIA4
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4, the group of Sialyltransferases|MicroRNA protein coding host genes
Basic information
Region (hg38): 5:100806933-100903282
Previous symbols: [ "SIAT8D" ]
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 ST8SIA4 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 | 16 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 16 | 0 | 0 |
Variants in ST8SIA4
This is a list of pathogenic ClinVar variants found in the ST8SIA4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-100811866-C-T | not specified | Uncertain significance (May 22, 2023) | ||
| 5-100811995-G-T | not specified | Uncertain significance (Jun 27, 2022) | ||
| 5-100812107-G-A | not specified | Uncertain significance (May 11, 2022) | ||
| 5-100856145-C-T | not specified | Uncertain significance (Jul 12, 2022) | ||
| 5-100856157-T-G | not specified | Uncertain significance (Nov 21, 2024) | ||
| 5-100856191-C-T | not specified | Uncertain significance (Jun 13, 2024) | ||
| 5-100856238-C-T | not specified | Uncertain significance (Oct 05, 2022) | ||
| 5-100856241-T-G | not specified | Uncertain significance (Sep 03, 2024) | ||
| 5-100856292-C-T | not specified | Uncertain significance (Jul 16, 2021) | ||
| 5-100856338-T-C | not specified | Uncertain significance (Jun 11, 2024) | ||
| 5-100886374-T-C | not specified | Uncertain significance (Dec 20, 2023) | ||
| 5-100886514-A-T | not specified | Uncertain significance (Feb 27, 2025) | ||
| 5-100895717-G-C | not specified | Uncertain significance (Apr 01, 2024) | ||
| 5-100895729-C-T | not specified | Uncertain significance (Feb 22, 2023) | ||
| 5-100895747-C-A | not specified | Uncertain significance (Mar 08, 2024) | ||
| 5-100895765-C-A | not specified | Uncertain significance (Mar 05, 2025) | ||
| 5-100902904-T-C | not specified | Uncertain significance (Dec 06, 2023) | ||
| 5-100902925-A-C | not specified | Uncertain significance (May 17, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ST8SIA4 | protein_coding | protein_coding | ENST00000231461 | 5 | 96332 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.000401 | 0.963 | 125738 | 0 | 10 | 125748 | 0.0000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.74 | 125 | 193 | 0.648 | 0.00000959 | 2354 |
| Missense in Polyphen | 27 | 60.768 | 0.44431 | 773 | ||
| Synonymous | -0.863 | 78 | 68.9 | 1.13 | 0.00000326 | 692 |
| Loss of Function | 1.86 | 8 | 16.0 | 0.499 | 9.89e-7 | 190 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000157 | 0.000152 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000441 | 0.0000439 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid (PSA), which is present on the embryonic neural cell adhesion molecule (N-CAM), necessary for plasticity of neural cells.;
- Pathway
- Ectoderm Differentiation;Developmental Biology;Post-translational protein modification;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;Asparagine N-linked glycosylation;NCAM signaling for neurite out-growth;NCAM1 interactions;Axon guidance
(Consensus)
Recessive Scores
- pRec
- 0.110
Intolerance Scores
- loftool
- 0.407
- rvis_EVS
- -0.34
- rvis_percentile_EVS
- 30.07
Haploinsufficiency Scores
- pHI
- 0.168
- hipred
- Y
- hipred_score
- 0.728
- ghis
- 0.631
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.508
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- St8sia4
- 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); 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- ganglioside biosynthetic process;cellular protein modification process;protein glycosylation;N-glycan processing;nervous system development;oligosaccharide metabolic process;sialylation
- Cellular component
- Golgi membrane;integral component of membrane
- Molecular function
- alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;sialic acid binding