UNC13C

unc-13 homolog C, the group of UNC13 homologs

Basic information

Region (hg38): 15:53978200-54628707

Links

ENSG00000137766 ∙ NCBI:440279 ∙ OMIM:614568 ∙ HGNC:23149 ∙ Uniprot:Q8NB66 ∙ 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 UNC13C gene.

• Inborn genetic diseases (69 variants)
• not provided (4 variants)
• Clubfoot;Abnormal finger morphology;Abnormality of the face;Cystic renal dysplasia;Renal cyst (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UNC13C 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				2		2
missense			70	1		71
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	71	3	0

Variants in UNC13C

This is a list of pathogenic ClinVar variants found in the UNC13C region.

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

Position	Type	Phenotype	Significance	ClinVar
15-54012908-T-C		not specified	Uncertain significance (Sep 06, 2022)
15-54013117-A-T		not specified	Uncertain significance (Mar 01, 2023)
15-54013174-A-G		not specified	Uncertain significance (Dec 16, 2023)
15-54013186-C-T		Cystic renal dysplasia;Renal cyst;Clubfoot;Abnormal finger morphology;Abnormality of the face	Uncertain significance (Jan 01, 2019)
15-54013190-T-A		not specified	Uncertain significance (Apr 25, 2022)
15-54013270-A-T		not specified	Uncertain significance (Jan 19, 2022)
15-54013380-C-G		not specified	Uncertain significance (Jun 16, 2023)
15-54013424-A-C		not specified	Uncertain significance (Dec 13, 2023)
15-54013507-A-G		not specified	Uncertain significance (Feb 23, 2023)
15-54013534-A-G		not specified	Uncertain significance (Aug 16, 2022)
15-54013547-A-G		not specified	Uncertain significance (Feb 13, 2024)
15-54013559-G-A		not specified	Uncertain significance (Sep 14, 2022)
15-54013595-G-A		not specified	Uncertain significance (Aug 02, 2023)
15-54013596-T-A		not specified	Uncertain significance (Nov 29, 2023)
15-54013638-G-T		not specified	Uncertain significance (Dec 13, 2021)
15-54013681-C-G		not specified	Uncertain significance (Jan 02, 2024)
15-54013702-G-A		not specified	Uncertain significance (Jan 03, 2024)
15-54013726-G-A		not specified	Uncertain significance (Oct 10, 2023)
15-54013815-C-G			Likely benign (Nov 01, 2023)
15-54013901-A-G		not specified	Uncertain significance (Mar 28, 2023)
15-54013949-C-T		not specified	Uncertain significance (Feb 05, 2024)
15-54013960-A-G		not specified	Uncertain significance (Apr 18, 2023)
15-54013986-G-T		not specified	Uncertain significance (Jun 27, 2022)
15-54014065-G-A		not specified	Uncertain significance (Dec 21, 2022)
15-54014076-A-T		not specified	Uncertain significance (Feb 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UNC13C	protein_coding	protein_coding	ENST00000260323	32	615706

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.17e-15	1.00	124574	0	143	124717	0.000573

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.143	1105	1.09e+3	1.01	0.0000539	14553
Missense in Polyphen		384	409.8	0.93703		5508
Synonymous	-1.50	429	391	1.10	0.0000197	4019
Loss of Function	5.53	44	105	0.418	0.00000580	1348

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000539	0.000534
Ashkenazi Jewish	0.000399	0.000398
East Asian	0.00147	0.00144
Finnish	0.000934	0.000929
European (Non-Finnish)	0.000569	0.000557
Middle Eastern	0.00147	0.00144
South Asian	0.000395	0.000392
Other	0.000848	0.000826

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. May be involved in the regulation of synaptic transmission at parallel fiber - Purkinje cell synapses (By similarity). {ECO:0000250}.
• Pathway: Synaptic vesicle cycle - Homo sapiens (human);Synaptic Vesicle Pathway (Consensus)

Recessive Scores

• pRec: 0.0999

Intolerance Scores

• loftool: 0.328
• rvis_EVS: -1.67
• rvis_percentile_EVS: 2.7

Haploinsufficiency Scores

• pHI: 0.110
• hipred: N
• hipred_score: 0.492
• ghis: 0.588

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.154

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Unc13c
• 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: chemical synaptic transmission;neuromuscular junction development;synaptic vesicle docking;synaptic vesicle priming;synaptic vesicle maturation;negative regulation of synaptic plasticity;synaptic transmission, glutamatergic;intracellular signal transduction;dense core granule priming;presynaptic dense core vesicle exocytosis
• Cellular component: plasma membrane;cell junction;synaptic vesicle membrane;neuromuscular junction;presynaptic membrane;terminal bouton;calyx of Held;presynaptic active zone;parallel fiber to Purkinje cell synapse;presynaptic active zone cytoplasmic component
• Molecular function: calcium ion binding;calmodulin binding;phospholipid binding;syntaxin-1 binding;diacylglycerol binding