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

ENSG00000113532 ∙ NCBI:7903 ∙ OMIM:602547 ∙ HGNC:10871 ∙ Uniprot:Q92187 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ST8SIA4 gene.

• not_specified (29 variants)

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. These statistics are base on transcript: NM_000005668.6. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1			1
missense			31			31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	32	0	0

GnomAD

Source: gnomAD

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
		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: dbNSFP

• 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

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

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