GeneBe

SYT8

synaptotagmin 8, the group of Synaptotagmins

Basic information

Region (hg38): 11:1828307-1837521

Links

ENSG00000149043 ∙ NCBI:90019 ∙ OMIM:607719 ∙ HGNC:19264 ∙ Uniprot:Q8NBV8 ∙ 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 SYT8 gene.

  • not_specified (78 variants)
  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SYT8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001394072.1. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
 1
missense
75
clinvar
2
clinvar
2
clinvar
 79
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 75 3 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SYT8protein_codingprotein_codingENST00000381968 910043
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
9.89e-250.0000049212543512501256860.000999
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2372612501.040.00001662504
Missense in Polyphen5453.0121.0186711
Synonymous-1.681351121.200.00000760884
Loss of Function-2.413018.71.600.00000102183

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.004090.00406
Ashkenazi Jewish0.000.00
East Asian0.0002800.000272
Finnish0.0001480.000139
European (Non-Finnish)0.0009360.000898
Middle Eastern0.0002800.000272
South Asian0.0005390.000523
Other0.001200.00114

dbNSFP

Source: dbNSFP

Function
FUNCTION: Isoform 4 may play a role in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Mediates Ca(2+)-regulation of exocytosis acrosomal reaction in sperm. May mediate Ca(2+)-regulation of exocytosis in insulin secreted cells (By similarity). {ECO:0000250}.;
Pathway
Vesicle-mediated transport;Membrane Trafficking;Clathrin-mediated endocytosis;Cargo recognition for clathrin-mediated endocytosis (Consensus)

Recessive Scores

pRec
0.107

Intolerance Scores

loftool
0.820
rvis_EVS
1.16
rvis_percentile_EVS
92.63

Haploinsufficiency Scores

pHI
0.163
hipred
N
hipred_score
0.146
ghis
0.410

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.464

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Syt8
Phenotype

Gene ontology

Biological process
acrosome reaction;regulation of dopamine secretion;synaptic vesicle exocytosis;vesicle-mediated transport;calcium ion regulated exocytosis;regulation of calcium ion-dependent exocytosis;synaptic vesicle endocytosis;calcium ion-regulated exocytosis of neurotransmitter;cellular response to calcium ion
Cellular component
acrosomal vesicle;plasma membrane;integral component of membrane;axon;synaptic vesicle membrane;dense core granule;exocytic vesicle
Molecular function
SNARE binding;phosphatidylserine binding;calcium ion binding;calcium-dependent phospholipid binding;syntaxin binding;clathrin binding;calcium-dependent protein binding