UNC13B

unc-13 homolog B, the group of UNC13 homologs

Basic information

Region (hg38): 9:35161991-35405338

Previous symbols: [ "UNC13" ]

Links

ENSG00000198722 ∙ NCBI:10497 ∙ OMIM:605836 ∙ HGNC:12566 ∙ Uniprot:O14795 ∙ 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 UNC13B gene.

• Inborn genetic diseases (67 variants)
• not provided (9 variants)
• UNC13B-related seizure disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UNC13B 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				1	2	3
missense			68	3	2	73
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding						0
Total	0	0	69	4	4

Variants in UNC13B

This is a list of pathogenic ClinVar variants found in the UNC13B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-35231183-G-A		not specified	Uncertain significance (Jan 03, 2024)
9-35231197-T-G		not specified	Uncertain significance (Jan 26, 2022)
9-35231202-G-A			Uncertain significance (Mar 31, 2023)
9-35236480-G-A		not specified	Uncertain significance (Jun 30, 2022)
9-35236509-T-C		not specified	Uncertain significance (Apr 13, 2022)
9-35236558-C-T		not specified	Uncertain significance (Jan 30, 2024)
9-35236572-C-T		not specified	Uncertain significance (Jun 30, 2023)
9-35236573-G-A		not specified	Uncertain significance (Oct 19, 2021)
9-35237736-G-A		not specified	Uncertain significance (Dec 05, 2022)
9-35237754-G-A		not specified	Uncertain significance (Feb 21, 2024)
9-35237825-T-G		not specified	Uncertain significance (Oct 22, 2021)
9-35243321-C-A		not specified	Uncertain significance (Feb 14, 2023)
9-35243342-A-G		not specified	Uncertain significance (Oct 03, 2022)
9-35243360-A-G		not specified	Uncertain significance (Sep 22, 2021)
9-35243366-T-G			Uncertain significance (May 01, 2023)
9-35259015-A-G		not specified	Uncertain significance (Jan 18, 2023)
9-35259022-G-T		not specified	Uncertain significance (Nov 12, 2021)
9-35259024-C-A		not specified	Uncertain significance (Apr 05, 2023)
9-35295719-G-A		not specified	Uncertain significance (Mar 29, 2022)
9-35295722-G-A		not specified	Uncertain significance (May 05, 2022)
9-35295728-C-G		not specified	Uncertain significance (Oct 10, 2023)
9-35295771-C-T		not specified	Uncertain significance (Jan 19, 2022)
9-35295830-C-G		not specified	Likely benign (Dec 08, 2023)
9-35295857-G-C		not specified	Uncertain significance (Feb 22, 2023)
9-35295883-C-A			Benign (Jul 17, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UNC13B	protein_coding	protein_coding	ENST00000378495	39	243337

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.15e-17	1.00	125622	0	126	125748	0.000501

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.45	794	917	0.866	0.0000534	10513
Missense in Polyphen		318	368.65	0.86262		4269
Synonymous	1.30	311	341	0.911	0.0000194	3015
Loss of Function	4.99	45	98.4	0.457	0.00000562	1048

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00146	0.00146
Ashkenazi Jewish	0.00	0.00
East Asian	0.000924	0.000925
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000494	0.000492
Middle Eastern	0.000924	0.000925
South Asian	0.000327	0.000327
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity- depending refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). {ECO:0000250}.
• Pathway: Synaptic vesicle cycle - Homo sapiens (human);Synaptic Vesicle Pathway;Monoamine Transport;Effects of Botulinum toxin;Neuronal System;Glutamate Neurotransmitter Release Cycle;Dopamine Neurotransmitter Release Cycle;Acetylcholine Neurotransmitter Release Cycle;Neurotransmitter release cycle;Transmission across Chemical Synapses;Serotonin Neurotransmitter Release Cycle;Norepinephrine Neurotransmitter Release Cycle (Consensus)

Recessive Scores

• pRec: 0.141

Intolerance Scores

• loftool: 0.183
• rvis_EVS: -2.89
• rvis_percentile_EVS: 0.59

Haploinsufficiency Scores

• pHI: 0.456
• hipred: N
• hipred_score: 0.427
• ghis: 0.548

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.759

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Unc13b
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: chemical synaptic transmission;neuromuscular junction development;positive regulation of synaptic vesicle priming;synaptic vesicle docking;synaptic vesicle priming;synaptic vesicle maturation;negative regulation of synaptic plasticity;synaptic transmission, glutamatergic;intracellular signal transduction;positive regulation of apoptotic process;regulation of short-term neuronal synaptic plasticity;positive regulation of protein secretion;innervation;dense core granule priming;cellular response to glucose stimulus;phagosome maturation;positive regulation of inhibitory postsynaptic potential;presynaptic dense core vesicle exocytosis;positive regulation of defense response to bacterium
• Cellular component: Golgi apparatus;cytosol;plasma membrane;membrane;cell junction;synaptic vesicle membrane;neuromuscular junction;early phagosome;presynaptic membrane;terminal bouton;calyx of Held;presynaptic active zone;ribbon synapse;hippocampal mossy fiber to CA3 synapse;presynaptic active zone cytoplasmic component;glutamatergic synapse
• Molecular function: calcium ion binding;protein binding;calmodulin binding;phospholipid binding;syntaxin-1 binding;Rab GTPase binding;diacylglycerol binding;GTP-dependent protein binding