UNC79

unc-79 homolog, NALCN channel complex subunit, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 14:93333218-93707876

Previous symbols: [ "KIAA1409" ]

Links

ENSG00000133958 ∙ NCBI:57578 ∙ OMIM:616884 ∙ HGNC:19966 ∙ Uniprot:Q9P2D8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• complex neurodevelopmental disorder (Strong), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UNC79 gene.

• Inborn genetic diseases (77 variants)
• not provided (9 variants)
• UNC79-related condition (2 variants)
• Autism spectrum disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UNC79 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		1
missense			80	2		82
nonsense			3			3
start loss						0
frameshift			2			2
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding						0
Total	0	0	86	3	0

Variants in UNC79

This is a list of pathogenic ClinVar variants found in the UNC79 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-93347282-G-A		not specified	Uncertain significance (Oct 10, 2023)
14-93347296-G-T		not specified	Uncertain significance (May 11, 2022)
14-93348059-C-T		not specified	Uncertain significance (Jun 22, 2021)
14-93348103-C-A		not specified	Uncertain significance (Nov 12, 2021)
14-93467669-A-T		UNC79-related disorder	Likely benign (Sep 29, 2020)
14-93467670-G-T		UNC79-related disorder	Likely benign (Sep 29, 2020)
14-93467751-A-T		UNC79-related disorder	Uncertain significance (Feb 28, 2024)
14-93474273-C-A		UNC79-related disorder	Likely benign (Jun 01, 2022)
14-93477683-G-A		Inborn genetic diseases	Uncertain significance (Nov 20, 2023)
14-93477694-A-C		Inborn genetic diseases	Uncertain significance (Dec 20, 2023)
14-93487703-C-G		Inborn genetic diseases	Uncertain significance (Jul 09, 2021)
14-93497184-C-T		Inborn genetic diseases	Uncertain significance (Jun 06, 2023)
14-93528586-C-T		Inborn genetic diseases	Uncertain significance (Aug 09, 2021)
14-93528648-T-A		UNC79-related disorder	Uncertain significance (Jan 16, 2024)
14-93532564-A-G		Inborn genetic diseases	Uncertain significance (Dec 22, 2023)
14-93532573-A-T			Uncertain significance (Oct 13, 2023)
14-93538049-C-T		Inborn genetic diseases	Uncertain significance (Jul 09, 2021)
14-93538070-C-T		Inborn genetic diseases	Uncertain significance (Dec 07, 2022)
14-93538125-C-T		Inborn genetic diseases	Uncertain significance (Jan 04, 2024)
14-93540676-G-C		UNC79-related disorder	Likely benign (Dec 13, 2022)
14-93540715-C-T		Inborn genetic diseases	Uncertain significance (Jan 24, 2024)
14-93542500-C-T		Inborn genetic diseases	Uncertain significance (Dec 16, 2022)
14-93542524-C-T			Uncertain significance (Feb 14, 2023)
14-93542529-G-A		Inborn genetic diseases	Uncertain significance (Jun 05, 2023)
14-93542578-G-C		Inborn genetic diseases	Uncertain significance (Sep 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UNC79	protein_coding	protein_coding	ENST00000256339	47	374658

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	1.00e-12	125725	0	22	125747	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	4.16	934	1.37e+3	0.683	0.0000760	16253
Missense in Polyphen		409	727.09	0.56252		8881
Synonymous	1.05	510	541	0.943	0.0000344	4712
Loss of Function	9.40	11	124	0.0888	0.00000663	1436

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000424	0.000424
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000231	0.000231
European (Non-Finnish)	0.0000618	0.0000615
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the NALCN sodium channel complex, a cation channel activated either by neuropeptides substance P or neurotensin that controls neuronal excitability. {ECO:0000250}.
• Pathway: Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• rvis_EVS: -1.11
• rvis_percentile_EVS: 6.63

Haploinsufficiency Scores

• pHI: 0.137
• hipred: Y
• hipred_score: 0.733
• ghis: 0.568

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Unc79
• 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); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

• Biological process: ion transmembrane transport;multicellular organism growth;behavioral response to ethanol
• Cellular component: plasma membrane;integral component of membrane