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.

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.

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			49	2		51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	49	2	0

Variants in TRIL

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

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

Position	Type	Phenotype	Significance	ClinVar
7-28955645-C-T		not specified	Uncertain significance (Mar 20, 2024)
7-28955685-T-C		not specified	Uncertain significance (May 09, 2023)
7-28955709-T-C		not specified	Uncertain significance (Oct 29, 2021)
7-28955727-G-C		not specified	Uncertain significance (Feb 07, 2023)
7-28955763-A-T		not specified	Uncertain significance (Jul 09, 2021)
7-28955795-A-G		not specified	Uncertain significance (Apr 17, 2023)
7-28955810-C-T		not specified	Uncertain significance (Jul 16, 2021)
7-28955837-T-C		not specified	Uncertain significance (Sep 27, 2021)
7-28955840-A-G		not specified	Uncertain significance (Jun 29, 2023)
7-28955858-C-T		not specified	Uncertain significance (Dec 08, 2023)
7-28955859-G-A		not specified	Uncertain significance (Dec 19, 2023)
7-28955868-G-A		not specified	Uncertain significance (Feb 27, 2023)
7-28955876-C-T		not specified	Uncertain significance (Dec 28, 2022)
7-28955888-C-G		not specified	Uncertain significance (Dec 15, 2023)
7-28955894-G-A		not specified	Uncertain significance (Dec 01, 2022)
7-28955931-T-C		not specified	Uncertain significance (Jan 03, 2024)
7-28955959-C-G		not specified	Uncertain significance (Aug 02, 2021)
7-28955963-T-C		not specified	Uncertain significance (Dec 14, 2023)
7-28955993-G-A		not specified	Uncertain significance (Aug 11, 2022)
7-28956050-C-T		not specified	Uncertain significance (Sep 27, 2021)
7-28956083-G-A		not specified	Uncertain significance (Jun 03, 2022)
7-28956171-G-A		not specified	Uncertain significance (Oct 25, 2022)
7-28956201-C-G		not specified	Uncertain significance (Jul 05, 2023)
7-28956285-A-G		not specified	Uncertain significance (Dec 13, 2023)
7-28956356-G-A		not specified	Uncertain significance (Feb 28, 2023)

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