TREML4

triggering receptor expressed on myeloid cells like 4, the group of V-set domain containing

Basic information

Region (hg38): 6:41228338-41238882

Links

ENSG00000188056 ∙ NCBI:285852 ∙ OMIM:614664 ∙ HGNC:30807 ∙ Uniprot:Q6UXN2 ∙ 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 TREML4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TREML4 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				1		1
missense			8	1		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	8	2	0

Variants in TREML4

This is a list of pathogenic ClinVar variants found in the TREML4 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-41228716-T-C			Likely benign (Apr 01, 2021)
6-41228781-C-T		not specified	Uncertain significance (Jun 22, 2021)
6-41228813-T-C		not specified	Uncertain significance (Jun 02, 2023)
6-41228862-A-G		not specified	Uncertain significance (Apr 25, 2023)
6-41228870-A-T		not specified	Uncertain significance (Sep 27, 2021)
6-41228871-C-A		not specified	Uncertain significance (Dec 12, 2023)
6-41228905-C-G		not specified	Uncertain significance (Dec 02, 2022)
6-41228961-C-T		not specified	Uncertain significance (May 14, 2024)
6-41228995-C-T			Likely benign (Jun 01, 2022)
6-41228996-G-A		not specified	Likely benign (Jul 05, 2023)
6-41229025-C-G		not specified	Uncertain significance (Apr 24, 2024)
6-41230103-A-G		not specified	Uncertain significance (Dec 02, 2022)
6-41236567-G-C		not specified	Uncertain significance (Mar 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TREML4	protein_coding	protein_coding	ENST00000341495	5	10559

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.75e-10	0.0418	125741	0	5	125746	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.432	117	105	1.12	0.00000481	1269
Missense in Polyphen		26	24.229	1.0731		328
Synonymous	0.195	38	39.6	0.961	0.00000189	399
Loss of Function	-0.477	13	11.3	1.15	4.80e-7	128

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000446	0.0000439
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Positively regulates Toll-like receptor TLR7 signaling in macrophages. {ECO:0000269|PubMed:25848864}.
• Pathway: Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Intolerance Scores

• loftool: 0.796
• rvis_EVS: 0.97
• rvis_percentile_EVS: 90.27

Haploinsufficiency Scores

• pHI: 0.0383
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0000845

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Treml4

Gene ontology

• Biological process: positive regulation of toll-like receptor 7 signaling pathway;innate immune response;regulation of immune response
• Cellular component: extracellular region;plasma membrane
• Molecular function: protein binding