SYT16

synaptotagmin 16, the group of Synaptotagmins

Basic information

Region (hg38): 14:61811974-62112550

Previous symbols: [ "SYT14L" ]

Links

ENSG00000139973NCBI:83851OMIM:610950HGNC:23142Uniprot:Q17RD7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SYT16 gene.

  • not_specified (75 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SYT16 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001367656.1. 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
0
missense
72
clinvar
3
clinvar
75
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 72 3 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SYT16protein_codingprotein_codingENST00000430451 6114629
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000002020.9951246300261246560.000104
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1973813701.030.00002134265
Missense in Polyphen6989.8120.76827974
Synonymous-0.07631471461.010.000008801229
Loss of Function2.481428.20.4960.00000172291

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003010.000291
Ashkenazi Jewish0.0001990.000199
East Asian0.0001270.000111
Finnish0.00004660.0000464
European (Non-Finnish)0.0001060.0000973
Middle Eastern0.0001270.000111
South Asian0.00006540.0000654
Other0.0003560.000330

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent.;

Recessive Scores

pRec
0.108

Intolerance Scores

loftool
0.672
rvis_EVS
0.47
rvis_percentile_EVS
78.8

Haploinsufficiency Scores

pHI
0.274
hipred
N
hipred_score
0.309
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.00211

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Syt16
Phenotype

Gene ontology

Biological process
exocytosis
Cellular component
Molecular function
protein binding;phospholipid binding;protein homodimerization activity;protein heterodimerization activity