UNC5C

unc-5 netrin receptor C, the group of I-set domain containing

Basic information

Region (hg38): 4:95162504-95549206

Links

ENSG00000182168 ∙ NCBI:8633 ∙ OMIM:603610 ∙ HGNC:12569 ∙ Uniprot:O95185 ∙ 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 UNC5C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UNC5C 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				8	7	15
missense			49	2	6	57
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	49	10	13

Variants in UNC5C

This is a list of pathogenic ClinVar variants found in the UNC5C region.

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

Position	Type	Phenotype	Significance	ClinVar
4-95169239-A-G		not specified	Uncertain significance (Dec 02, 2022)
4-95169241-T-C		not specified	Uncertain significance (Jun 13, 2022)
4-95169250-G-C		not specified	Uncertain significance (Oct 01, 2024)
4-95169258-G-A		UNC5C-related disorder	Likely benign (Dec 02, 2019)
4-95169321-A-G		UNC5C-related disorder	Benign (Sep 17, 2019)
4-95169323-C-T		not specified	Uncertain significance (Oct 01, 2024)
4-95169335-G-C		not specified	Uncertain significance (May 30, 2024)
4-95169342-C-G		not specified	Uncertain significance (Sep 17, 2021)
4-95169354-G-C			Uncertain significance (May 19, 2022)
4-95169359-C-T		not specified	Uncertain significance (Sep 02, 2024)
4-95169360-G-A			Benign (Apr 13, 2018)
4-95170197-C-T		not specified	Uncertain significance (Nov 09, 2021)
4-95170202-G-A		not specified	Uncertain significance (Feb 10, 2023)
4-95170206-G-T			Uncertain significance (Jan 13, 2023)
4-95170242-T-G		not specified	Uncertain significance (Mar 19, 2024)
4-95170247-A-G		UNC5C-related disorder	Uncertain significance (Feb 13, 2023)
4-95170250-G-A		not specified	Uncertain significance (Oct 12, 2022)
4-95170263-C-T		UNC5C-related disorder	Benign (Jul 01, 2024)
4-95170270-C-T		UNC5C-related disorder	Likely benign (Apr 01, 2022)
4-95170317-C-T		not specified	Uncertain significance (Apr 28, 2023)
4-95170322-C-T		not specified	Uncertain significance (Sep 21, 2023)
4-95170332-C-G		not specified	Uncertain significance (Jun 13, 2023)
4-95182900-T-C		UNC5C-related disorder	Likely benign (Mar 28, 2019)
4-95182905-C-T		not specified	Uncertain significance (Jan 05, 2022)
4-95182906-G-A		UNC5C-related disorder	Likely benign (May 06, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UNC5C	protein_coding	protein_coding	ENST00000453304	16	386703

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000881	0.999	125722	0	26	125748	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.983	471	535	0.880	0.0000296	6046
Missense in Polyphen		153	210.46	0.72698		2374
Synonymous	-2.26	257	215	1.20	0.0000128	1871
Loss of Function	4.23	14	44.5	0.315	0.00000223	505

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000276	0.000272
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000276	0.000272
South Asian	0.0000660	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for netrin required for axon guidance. Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding. Axon repulsion in growth cones may be caused by its association with DCC that may trigger signaling for repulsion. Also involved in corticospinal tract axon guidances independently of DCC. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. {ECO:0000250|UniProtKB:O08747}.
• Pathway: Axon guidance - Homo sapiens (human);Developmental Biology;Netrin mediated repulsion signals;Netrin-1 signaling;Axon guidance;Netrin-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.136

Intolerance Scores

• loftool: 0.482
• rvis_EVS: -0.44
• rvis_percentile_EVS: 24.68

Haploinsufficiency Scores

• pHI: 0.612
• hipred: Y
• hipred_score: 0.694
• ghis: 0.487

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.281

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Unc5c
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system 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); 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); 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); cellular phenotype

Gene ontology

• Biological process: apoptotic process;axon guidance;brain development;regulation of cell migration;anterior/posterior axon guidance;netrin-activated signaling pathway;positive regulation of apoptotic process
• Cellular component: plasma membrane;integral component of membrane;cell junction;neuron projection;synapse
• Molecular function: netrin receptor activity