SYCN

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			30 clinvar	3 clinvar		33
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	3	0	33

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001080468.4	RefSeq	NP_001073937.1	2	MANE Select
ENST00000318438.7	Ensembl	ENSP00000325564.6	2	MANE Select
ENST00001099116.1	Ensembl	ENSP00000768922.1	2	Standard
ENST00001138382.1	Ensembl	ENSP00000806989.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

exocytosis

Cellular Component

transport vesicle membrane
secretory granule membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000318438
Coding exons: 2
Length: 1436
Individuals with no LoFs: 124269
Homozygous LoFs: 0
Heterozygous LoFs: 46
Defined: 124315
p: 0.000185

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.166	89	84.7	1.05	0.00000500	819
Missense (PolyPhen)		29	32.508	0.89209		310
Synonymous	0.410	43	46.6	0.924	0.00000307	303
Loss of Function	-0.426	6	4.97	1.21	2.13e-7	53

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00034	0.00032	rare
Latino/Admixed American	0.00015	0.00015	rare
Ashkenazi Jewish	0.00070	0.00070	rare
East Asian	0.00040	0.00039	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00010	0.000098	rare
South Asian	0.00030	0.00029	rare
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Functions in exocytosis in pancreatic acinar cells regulating the fusion of zymogen granules with each other. May have a pore-forming activity on membranes and regulate exocytosis in other exocrine tissues (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.129

Intolerance Scores

RVIS EVS: -0.03
RVIS percentile EVS: 51.04

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.203

Gene Damage Prediction

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