LYZL6

lysozyme like 6, the group of Lysozymes, c-type

Basic information

Region (hg38): 17:35934518-35943713

Links

ENSG00000275722 ∙ NCBI:57151 ∙ OMIM:612751 ∙ HGNC:29614 ∙ Uniprot:O75951 ∙ 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 LYZL6 gene.

• not_specified (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LYZL6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020426.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			16	1		17
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	16	1	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved sperm-egg plasma membrane adhesion and fusion during fertilization (PubMed:28182716). Exhibits bacteriolytic activity in vitro against Micrococcus luteus and Staphylococcus aureus (PubMed:28182716, PubMed:24013621). Shows weak bacteriolytic activity against Gram-positive bacteria at physiological pH (PubMed:28182716). Bacteriolytic activity is pH- dependent, with a maximum at around pH 5.6 (PubMed:28182716). {ECO:0000269|PubMed:24013621, ECO:0000269|PubMed:28182716}.

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.695
• rvis_EVS: 0.39
• rvis_percentile_EVS: 76.05

Haploinsufficiency Scores

• pHI: 0.0873
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.135

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Lyzl6
• Phenotype: normal phenotype

Gene ontology

• Biological process: fusion of sperm to egg plasma membrane involved in single fertilization;metabolic process;fertilization;cytolysis;defense response to bacterium;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium
• Cellular component: extracellular region;cell surface;sperm midpiece;sperm plasma membrane
• Molecular function: lysozyme activity