BSN

bassoon presynaptic cytomatrix protein, the group of Zinc fingers PCLO-type

Basic information

Region (hg38): 3:49554477-49671549

Previous symbols: [ "ZNF231" ]

Links

ENSG00000164061 ∙ NCBI:8927 ∙ OMIM:604020 ∙ HGNC:1117 ∙ Uniprot:Q9UPA5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• epilepsy (Limited), mode of inheritance: AD
• epilepsy (Limited), mode of inheritance: AR

ClinVar

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

• not_specified (634 variants)
• not_provided (105 variants)
• BSN-related_disorder (49 variants)
• BSN_related_epilepsy (4 variants)
• Epilepsy (3 variants)
• BSN-associated_seizure_disorder (2 variants)
• Parkinson_disease (1 variants)
• BSN-associated_neurodevelopmental_disorder (1 variants)
• BSN-associated_epilepsy (1 variants)
• Parkinsonian_disorder (1 variants)
• Seizure (1 variants)
• Vascular_parkinsonism (1 variants)
• Oromandibular-limb_hypogenesis_spectrum (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BSN gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003458.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			5	37	6	48
missense			665	34	5	704
nonsense	1	1	11			13
start loss						0
frameshift	2		15			17
splice donor/acceptor (+/-2bp)						0
Total	3	1	696	71	11

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BSN	protein_coding	protein_coding	ENST00000296452	10	117057

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125725	0	23	125748	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.26	2095	2.26e+3	0.925	0.000149	24933
Missense in Polyphen		36	35.452	1.0155		383
Synonymous	0.638	925	950	0.974	0.0000595	8761
Loss of Function	8.97	13	118	0.110	0.00000684	1304

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000152
Ashkenazi Jewish	0.000205	0.000198
East Asian	0.000113	0.000109
Finnish	0.0000470	0.0000462
European (Non-Finnish)	0.000147	0.000132
Middle Eastern	0.000113	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Is thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Seems to act through binding to ERC2/CAST1. Essential in regulated neurotransmitter release from a subset of brain glutamatergic synapses. Involved in the formation of the retinal photoreceptor ribbon synapses (By similarity). {ECO:0000250|UniProtKB:O88778}.

Recessive Scores

• pRec: 0.223

Intolerance Scores

• loftool: 0.126
• rvis_EVS: -3.96
• rvis_percentile_EVS: 0.19

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.805

Gene Damage Prediction

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

Gene ontology

• Biological process: chemical synaptic transmission;synapse assembly;protein localization to synapse;maintenance of presynaptic active zone structure;regulation of synaptic vesicle cycle;presynapse to nucleus signaling pathway
• Cellular component: nucleus;synaptic vesicle;cell surface;postsynaptic density;cell junction;axon;dendrite;synaptic vesicle membrane;neuron projection terminus;presynaptic active zone;cytoskeleton of presynaptic active zone;excitatory synapse;Schaffer collateral - CA1 synapse;glutamatergic synapse;GABA-ergic synapse
• Molecular function: metal ion binding;structural constituent of presynaptic active zone