TRIL

TLR4 interactor with leucine rich repeats

Basic information

Region (hg38): 7:28953358-28958330

Links

ENSG00000255690 ∙ NCBI:9865 ∙ OMIM:613356 ∙ HGNC:22200 ∙ Uniprot:Q7L0X0 ∙ 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 TRIL gene.

• not_specified (107 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIL gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014817.4. 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			104	3		107
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	104	3	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the TLR4 signaling complex. Mediate the innate immune response to bacterial lipopolysaccharide (LPS) leading to cytokine secretion. {ECO:0000269|PubMed:19710467}.

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.283

Mouse Genome Informatics

• Gene name: Tril

Gene ontology

• Biological process: regulation of cytokine production involved in immune response;inflammatory response;toll-like receptor 4 signaling pathway;innate immune response
• Cellular component: extracellular space;extracellular matrix;lipopolysaccharide receptor complex
• Molecular function: lipopolysaccharide binding