TREML1

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

Basic information

Region (hg38): 6:41149336-41154347

Links

ENSG00000161911 ∙ NCBI:340205 ∙ OMIM:609714 ∙ HGNC:20434 ∙ Uniprot:Q86YW5 ∙ 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 TREML1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TREML1 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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in TREML1

This is a list of pathogenic ClinVar variants found in the TREML1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-41149619-C-G		not specified	Uncertain significance (Nov 09, 2021)
6-41149665-C-T		not specified	Uncertain significance (Feb 17, 2024)
6-41149686-A-T		not specified	Uncertain significance (Apr 20, 2023)
6-41149692-G-A		not specified	Uncertain significance (Dec 22, 2023)
6-41149708-G-A		not specified	Uncertain significance (Apr 07, 2022)
6-41149810-T-A		not specified	Uncertain significance (Mar 24, 2023)
6-41150306-C-A		not specified	Uncertain significance (Jun 16, 2022)
6-41150864-C-T		not specified	Uncertain significance (Oct 16, 2023)
6-41150887-G-A		not specified	Uncertain significance (May 27, 2022)
6-41151309-G-A		not specified	Uncertain significance (Apr 19, 2023)
6-41151322-C-T		not specified	Uncertain significance (Oct 22, 2021)
6-41153820-A-G		not specified	Uncertain significance (Oct 31, 2022)
6-41153848-C-T		not specified	Uncertain significance (Oct 30, 2023)
6-41153907-C-T		not specified	Uncertain significance (Apr 23, 2024)
6-41153929-G-A		not specified	Uncertain significance (Oct 25, 2023)
6-41153967-G-A		not specified	Uncertain significance (Jan 02, 2024)
6-41153976-C-T		not specified	Uncertain significance (Feb 16, 2023)
6-41154067-G-A		not specified	Uncertain significance (Feb 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TREML1	protein_coding	protein_coding	ENST00000426005	6	4996

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.57e-12	0.00782	125650	0	98	125748	0.000390

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.141	170	175	0.970	0.00000902	1969
Missense in Polyphen		39	44.643	0.87359		533
Synonymous	0.392	72	76.4	0.943	0.00000423	701
Loss of Function	-0.950	16	12.4	1.29	6.12e-7	146

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00309	0.00309
Ashkenazi Jewish	0.00	0.00
East Asian	0.000327	0.000326
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000275	0.000273
Middle Eastern	0.000327	0.000326
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cell surface receptor that may play a role in the innate and adaptive immune response. {ECO:0000269|PubMed:15128762}.
• Pathway: Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Recessive Scores

• pRec: 0.0978

Intolerance Scores

• loftool: 0.748
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.41

Haploinsufficiency Scores

• pHI: 0.0842
• hipred: N
• hipred_score: 0.123
• ghis: 0.418

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0525

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Treml1
• Phenotype: skeleton phenotype; immune system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: platelet activation;innate immune response;regulation of immune response
• Cellular component: plasma membrane;cell surface;integral component of membrane;platelet alpha granule