IGLON5

IgLON family member 5, the group of V-set domain containing|IgLON cell adhesion molecules

Basic information

Region (hg38): 19:51311644-51330891

Links

ENSG00000142549 ∙ NCBI:402665 ∙ OMIM:618861 ∙ HGNC:34550 ∙ Uniprot:A6NGN9 ∙ 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 IGLON5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IGLON5 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			40			40
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	40	0	0

Variants in IGLON5

This is a list of pathogenic ClinVar variants found in the IGLON5 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-51311851-C-G		not specified	Uncertain significance (Nov 27, 2023)
19-51311852-C-T		not specified	Uncertain significance (Apr 05, 2023)
19-51311854-C-A		not specified	Uncertain significance (Sep 17, 2021)
19-51311854-C-G		not specified	Uncertain significance (Jul 13, 2021)
19-51311854-C-T		not specified	Uncertain significance (Dec 25, 2024)
19-51311855-C-A		not specified	Uncertain significance (Jan 29, 2025)
19-51311855-C-T		not specified	Uncertain significance (Jul 13, 2021)
19-51311857-C-A		not specified	Uncertain significance (Jun 25, 2024)
19-51311857-C-G		not specified	Uncertain significance (Jun 24, 2022)
19-51311858-C-G		not specified	Uncertain significance (Apr 20, 2024)
19-51311864-C-T		not specified	Uncertain significance (Mar 08, 2025)
19-51311878-C-T		not specified	Uncertain significance (Jan 19, 2024)
19-51311888-C-T		not specified	Uncertain significance (Mar 08, 2025)
19-51311894-C-T		not specified	Uncertain significance (Oct 26, 2022)
19-51322073-C-G		not specified	Uncertain significance (Jan 04, 2022)
19-51322102-G-A		not specified	Uncertain significance (Dec 06, 2023)
19-51323662-C-T		not specified	Likely benign (Nov 10, 2024)
19-51323688-G-A		not specified	Uncertain significance (Apr 12, 2023)
19-51323713-C-A		not specified	Uncertain significance (Jun 07, 2024)
19-51323726-G-A		not specified	Uncertain significance (Nov 07, 2022)
19-51323735-C-T		not specified	Uncertain significance (Oct 04, 2024)
19-51323751-C-T		not specified	Uncertain significance (Oct 17, 2024)
19-51323754-G-A		not specified	Uncertain significance (Nov 13, 2024)
19-51323816-G-A		not specified	Uncertain significance (May 03, 2023)
19-51323829-T-C		not specified	Uncertain significance (Jul 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IGLON5	protein_coding	protein_coding	ENST00000270642	8	18507

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.403	0.596	124634	0	9	124643	0.0000361

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.80	130	202	0.643	0.0000132	2081
Missense in Polyphen		54	90.932	0.59385		815
Synonymous	1.50	77	95.7	0.805	0.00000683	723
Loss of Function	2.68	3	13.7	0.218	5.95e-7	162

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000949	0.0000935
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000558	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000360	0.0000354
Middle Eastern	0.0000558	0.0000556
South Asian	0.0000655	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0957

Intolerance Scores

• loftool: 0.259
• rvis_EVS: -0.27
• rvis_percentile_EVS: 33.97

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.789
• ghis: 0.629

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.119

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Iglon5

Gene ontology

• Cellular component: extracellular region