SYT15
Basic information
Region (hg38): 10:46578216-46594173
Links
Phenotypes
GenCC
Source:
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 SYT15 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 | 12 | 14 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 12 | 2 | 0 |
Variants in SYT15
This is a list of pathogenic ClinVar variants found in the SYT15 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
10-46580178-G-A | not specified | Uncertain significance (Feb 03, 2022) | ||
10-46580182-T-C | not specified | Uncertain significance (Aug 22, 2022) | ||
10-46580325-C-T | not specified | Uncertain significance (Dec 01, 2022) | ||
10-46580926-C-G | not specified | Likely benign (Sep 21, 2023) | ||
10-46580964-G-C | not specified | Uncertain significance (Apr 06, 2023) | ||
10-46580995-C-T | not specified | Uncertain significance (Jan 26, 2022) | ||
10-46581941-T-C | not specified | Uncertain significance (Oct 03, 2022) | ||
10-46582111-C-A | not specified | Uncertain significance (Sep 30, 2021) | ||
10-46582147-C-T | not specified | Likely benign (Apr 04, 2023) | ||
10-46583775-T-C | not specified | Uncertain significance (Feb 06, 2024) | ||
10-46583861-C-G | not specified | Uncertain significance (Jul 19, 2022) | ||
10-46584498-C-G | not specified | Uncertain significance (Jun 01, 2023) | ||
10-46584577-C-T | not specified | Uncertain significance (Oct 26, 2022) | ||
10-46587613-G-A | not specified | Uncertain significance (Nov 07, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SYT15 | protein_coding | protein_coding | ENST00000374321 | 8 | 15957 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.42e-15 | 0.00238 | 124292 | 0 | 373 | 124665 | 0.00150 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.0555 | 228 | 226 | 1.01 | 0.0000138 | 2506 |
Missense in Polyphen | 67 | 65.197 | 1.0277 | 856 | ||
Synonymous | -0.202 | 102 | 99.4 | 1.03 | 0.00000630 | 779 |
Loss of Function | -0.953 | 20 | 15.9 | 1.26 | 7.65e-7 | 187 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00777 | 0.00776 |
Ashkenazi Jewish | 0.000806 | 0.000795 |
East Asian | 0.000167 | 0.000167 |
Finnish | 0.000139 | 0.000139 |
European (Non-Finnish) | 0.00182 | 0.00179 |
Middle Eastern | 0.000167 | 0.000167 |
South Asian | 0.000328 | 0.000327 |
Other | 0.00166 | 0.00165 |
dbNSFP
Source:
- Function
- FUNCTION: May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.121
Intolerance Scores
- loftool
- 0.990
- rvis_EVS
- 0.78
- rvis_percentile_EVS
- 87.24
Haploinsufficiency Scores
- pHI
- 0.0337
- hipred
- N
- hipred_score
- 0.264
- ghis
- 0.458
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.199
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Syt15
- Phenotype
Gene ontology
- Biological process
- regulation of dopamine secretion;vesicle-mediated transport;calcium ion regulated exocytosis;regulation of calcium ion-dependent exocytosis;cellular response to calcium ion
- Cellular component
- plasma membrane;integral component of membrane;exocytic vesicle
- Molecular function
- SNARE binding;phosphatidylserine binding;calcium ion binding;calcium-dependent phospholipid binding;clathrin binding