UNC5CL

unc-5 family C-terminal like

Basic information

Region (hg38): 6:41026894-41039221

Links

ENSG00000124602 ∙ NCBI:222643 ∙ OMIM:617464 ∙ HGNC:21203 ∙ Uniprot:Q8IV45 ∙ 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 UNC5CL gene.

• Inborn genetic diseases (25 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UNC5CL 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						0
missense			23	2		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	2	0

Variants in UNC5CL

This is a list of pathogenic ClinVar variants found in the UNC5CL region.

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

Position	Type	Phenotype	Significance	ClinVar
6-41028428-G-T		not specified	Uncertain significance (Aug 04, 2023)
6-41028445-G-C		not specified	Likely benign (Jun 24, 2022)
6-41028482-C-T		not specified	Uncertain significance (May 31, 2022)
6-41028488-A-G		not specified	Uncertain significance (Dec 06, 2023)
6-41030389-G-A		not specified	Uncertain significance (Dec 17, 2023)
6-41030418-G-A		not specified	Uncertain significance (Dec 28, 2022)
6-41030473-G-A		not specified	Uncertain significance (Nov 18, 2022)
6-41030484-A-G		not specified	Uncertain significance (Dec 19, 2023)
6-41030670-G-T		not specified	Uncertain significance (Dec 02, 2022)
6-41030691-G-A		not specified	Uncertain significance (Nov 30, 2022)
6-41032048-G-A		not specified	Uncertain significance (Jun 21, 2021)
6-41032062-C-A		not specified	Uncertain significance (Apr 25, 2022)
6-41032063-G-A		not specified	Uncertain significance (Jun 24, 2022)
6-41032964-C-T		not specified	Uncertain significance (Jul 19, 2022)
6-41033007-C-T		not specified	Uncertain significance (Feb 27, 2024)
6-41033015-G-A		not specified	Uncertain significance (Jan 03, 2024)
6-41033036-C-T		not specified	Uncertain significance (Jul 20, 2021)
6-41033049-G-C		not specified	Uncertain significance (Sep 16, 2021)
6-41033103-G-A		not specified	Uncertain significance (Aug 12, 2021)
6-41033905-C-G		not specified	Uncertain significance (Sep 22, 2021)
6-41033914-C-T		not specified	Uncertain significance (Oct 04, 2022)
6-41033989-G-T		not specified	Uncertain significance (Feb 27, 2023)
6-41033992-C-T		not specified	Uncertain significance (Aug 02, 2021)
6-41034052-G-C		not specified	Uncertain significance (Jan 23, 2023)
6-41034074-C-A		not specified	Uncertain significance (May 13, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UNC5CL	protein_coding	protein_coding	ENST00000244565	8	12157

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.04e-13	0.0610	125556	0	192	125748	0.000764

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.830	275	317	0.869	0.0000186	3328
Missense in Polyphen		80	99.976	0.80019		1139
Synonymous	0.251	131	135	0.973	0.00000766	1068
Loss of Function	0.476	21	23.5	0.894	0.00000114	242

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00123	0.00121
Ashkenazi Jewish	0.00159	0.00159
East Asian	0.000764	0.000761
Finnish	0.00278	0.00273
European (Non-Finnish)	0.000587	0.000571
Middle Eastern	0.000764	0.000761
South Asian	0.000199	0.000196
Other	0.00101	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits NF-kappa-B-dependent transcription by impairing NF-kappa-B binding to its targets. {ECO:0000269|PubMed:14769797}.
• Pathway: TNFalpha (Consensus)

Recessive Scores

• pRec: 0.0944

Intolerance Scores

• loftool: 0.631
• rvis_EVS: 1.51
• rvis_percentile_EVS: 95.47

Haploinsufficiency Scores

• pHI: 0.602
• hipred: N
• hipred_score: 0.170

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.895

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Unc5cl

Gene ontology

• Biological process: proteolysis;netrin-activated signaling pathway;positive regulation of I-kappaB kinase/NF-kappaB signaling;positive regulation of JNK cascade
• Cellular component: cytoplasm;membrane;integral component of membrane
• Molecular function: netrin receptor activity;peptidase activity