SNAP47

synaptosome associated protein 47

Basic information

Region (hg38): 1:227728200-227781826

Previous symbols: [ "C1orf142" ]

Links

ENSG00000143740

∙ NCBI:116841 ∙ OMIM:619659 ∙ HGNC:30669 ∙ Uniprot:Q5SQN1 ∙ 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 SNAP47 gene.

not_specified (50 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNAP47 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000053052.4. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			44 clinvar	6 clinvar		50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	44	6	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SNAP47	protein_coding	protein_coding	ENST00000366759	5	52688

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000207	0.908	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.130	274	268	1.02	0.0000149	3001
Missense in Polyphen		64	81.239	0.7878		1017
Synonymous	0.691	103	112	0.917	0.00000690	954
Loss of Function	1.58	10	17.1	0.586	8.77e-7	189

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000424	0.000423
Ashkenazi Jewish	0.00	0.00
East Asian	0.000598	0.000598
Finnish	0.00	0.00
European (Non-Finnish)	0.0000440	0.0000439
Middle Eastern	0.000598	0.000598
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plays a role in intracellular membrane fusion. {ECO:0000250}.;

Recessive Scores

pRec: 0.0974

Intolerance Scores

loftool: 0.604
rvis_EVS: 0.76
rvis_percentile_EVS: 86.75

Haploinsufficiency Scores

pHI: 0.121
hipred: N
hipred_score: 0.170
ghis: 0.423

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.190

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Snap47
Phenotype: growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);

Gene ontology

Biological process: exocytosis;vesicle fusion;synaptic vesicle priming;synaptic vesicle fusion to presynaptic active zone membrane;long-term synaptic potentiation;exocytic insertion of neurotransmitter receptor to postsynaptic membrane
Cellular component: plasma membrane;dendrite;synaptic vesicle membrane;BLOC-1 complex;SNARE complex;neuronal cell body;perinuclear region of cytoplasm;glutamatergic synapse
Molecular function: SNAP receptor activity;protein binding;syntaxin binding