SYT16

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			73 clinvar	3 clinvar		76
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	73	3	0	76

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 32 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001367656.1	RefSeq	NP_001354585.1	6	MANE Select
ENST00000683842.1	Ensembl	ENSP00000508274.1	6	MANE Select
NM_001367650.1	RefSeq	NP_001354579.1	4	Standard
NM_001367652.1	RefSeq	NP_001354581.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

exocytosis

Molecular Function

protein binding
phospholipid binding
protein homodimerization activity
protein heterodimerization activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000430451
Coding exons: 6
Length: 114629
Individuals with no LoFs: 124630
Homozygous LoFs: 0
Heterozygous LoFs: 26
Defined: 124656
p: 0.000104

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.197	381	370	1.03	0.0000213	4265
Missense (PolyPhen)		69	89.812	0.76827		974
Synonymous	-0.0763	147	146	1.01	0.00000880	1229
Loss of Function	2.48	14	28.2	0.496	0.00000172	291

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00020	0.00019	rare
Latino/Admixed American	0.000097	0.000087	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00013	0.00011	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00011	0.000097	rare
South Asian	0.000065	0.000065	rare
Other	0.00036	0.00033	rare

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00211

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium