TREM1

triggering receptor expressed on myeloid cells 1, the group of V-set domain containing|CD molecules

Basic information

Region (hg38): 6:41267925-41286682

Links

ENSG00000124731 ∙ NCBI:54210 ∙ OMIM:605085 ∙ HGNC:17760 ∙ Uniprot:Q9NP99 ∙ 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 TREM1 gene.

• Inborn genetic diseases (12 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TREM1 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				3		3
missense			11	1	3	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	4	3

Variants in TREM1

This is a list of pathogenic ClinVar variants found in the TREM1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-41276147-G-A		not specified	Uncertain significance (Oct 21, 2021)
6-41276165-G-A		not specified	Uncertain significance (Dec 08, 2023)
6-41276188-G-C			Benign (Jul 19, 2018)
6-41276197-A-G			Benign (May 09, 2018)
6-41281014-A-G			Likely benign (Jan 01, 2023)
6-41281016-C-T		not specified	Uncertain significance (Apr 07, 2022)
6-41281027-T-C		not specified	Uncertain significance (Apr 05, 2023)
6-41281033-G-A		not specified	Likely benign (Jun 30, 2022)
6-41281120-G-A		not specified	Uncertain significance (Jun 27, 2023)
6-41281133-A-G		not specified	Uncertain significance (Dec 16, 2023)
6-41281135-C-T		not specified	Uncertain significance (May 26, 2023)
6-41282397-T-G			Benign (Dec 13, 2017)
6-41282412-C-T		not specified	Uncertain significance (Oct 03, 2023)
6-41282418-C-T		not specified	Uncertain significance (Feb 07, 2023)
6-41282456-G-A			Likely benign (Mar 29, 2018)
6-41282585-C-T			Likely benign (Jan 01, 2023)
6-41282612-C-A		not specified	Uncertain significance (Feb 06, 2023)
6-41282620-C-T		not specified	Uncertain significance (Nov 08, 2022)
6-41282631-A-G		not specified	Uncertain significance (Jan 06, 2023)
6-41282670-G-A		not specified	Uncertain significance (Oct 25, 2023)
6-41282698-G-C		not specified	Uncertain significance (Feb 06, 2023)
6-41282724-T-C		not specified	Uncertain significance (Jun 22, 2021)
6-41282748-A-C		not specified	Uncertain significance (Nov 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TREM1	protein_coding	protein_coding	ENST00000244709	4	18794

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00628	0.917	125592	0	5	125597	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0844	128	131	0.979	0.00000678	1506
Missense in Polyphen		34	32.464	1.0473		406
Synonymous	0.361	50	53.4	0.937	0.00000289	488
Loss of Function	1.52	5	10.3	0.487	6.07e-7	109

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000308	0.000308
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Stimulates neutrophil and monocyte-mediated inflammatory responses. Triggers release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Amplifier of inflammatory responses that are triggered by bacterial and fungal infections and is a crucial mediator of septic shock. {ECO:0000269|PubMed:10799849, ECO:0000269|PubMed:11323674}.
• Pathway: Regulation of toll-like receptor signaling pathway;Vitamin D Receptor Pathway;Microglia Pathogen Phagocytosis Pathway;DAP12 interactions;Innate Immune System;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;Cell surface interactions at the vascular wall;Hemostasis (Consensus)

Recessive Scores

• pRec: 0.0677

Intolerance Scores

• loftool: 0.773
• rvis_EVS: 0.42
• rvis_percentile_EVS: 76.96

Haploinsufficiency Scores

• pHI: 0.0138
• hipred: N
• hipred_score: 0.153
• ghis: 0.398

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0161

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trem1
• Phenotype: hematopoietic system phenotype; neoplasm; immune system phenotype; skeleton phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: acute inflammatory response;humoral immune response;intracellular signal transduction;innate immune response;regulation of immune response;leukocyte migration
• Cellular component: extracellular region;plasma membrane;integral component of membrane
• Molecular function: signaling receptor activity;scaffold protein binding