TRIML2

tripartite motif family like 2

Basic information

Region (hg38): 4:188091272-188109603

Links

ENSG00000179046 ∙ NCBI:205860 ∙ ∙ HGNC:26378 ∙ Uniprot:Q8N7C3 ∙ 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 TRIML2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIML2 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					2	2
missense			16	6	1	23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	6	3

Variants in TRIML2

This is a list of pathogenic ClinVar variants found in the TRIML2 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-188091409-T-A		not specified	Uncertain significance (Nov 12, 2021)
4-188091513-T-G		not specified	Uncertain significance (May 26, 2023)
4-188091533-T-C		not specified	Uncertain significance (Jun 09, 2022)
4-188091543-A-T		not specified	Uncertain significance (Mar 07, 2023)
4-188091588-A-G			Benign (Mar 06, 2018)
4-188091618-G-C		not specified	Uncertain significance (Feb 13, 2023)
4-188091681-C-T		not specified	Uncertain significance (Mar 16, 2024)
4-188091747-T-C			Likely benign (Apr 04, 2018)
4-188091813-T-C		not specified	Uncertain significance (Apr 23, 2024)
4-188091846-C-G		not specified	Likely benign (Mar 19, 2024)
4-188091869-A-C		not specified	Uncertain significance (Jun 07, 2023)
4-188097079-T-G		not specified	Uncertain significance (Aug 21, 2023)
4-188097103-A-C		not specified	Uncertain significance (Jul 13, 2022)
4-188097124-G-A		not specified	Uncertain significance (Sep 16, 2021)
4-188097128-G-A			Benign (Apr 04, 2018)
4-188099051-G-A		not specified	Uncertain significance (Mar 28, 2023)
4-188099054-C-G		not specified	Uncertain significance (Nov 13, 2023)
4-188099103-G-A		not specified	Likely benign (Sep 26, 2023)
4-188099106-C-T			Benign (Apr 04, 2018)
4-188099163-C-A		not specified	Likely benign (Mar 21, 2023)
4-188099165-C-T		not specified	Likely benign (Sep 30, 2021)
4-188101063-A-G		not specified	Likely benign (May 08, 2023)
4-188101076-T-A		not specified	Uncertain significance (Apr 18, 2024)
4-188101084-A-G		not specified	Uncertain significance (Dec 19, 2022)
4-188101102-A-T		not specified	Uncertain significance (May 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIML2	protein_coding	protein_coding	ENST00000512729	7	18331

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000115	0.606	125725	0	23	125748	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.121	208	213	0.977	0.0000111	2551
Missense in Polyphen		52	48.307	1.0764		676
Synonymous	-0.0390	87	86.5	1.01	0.00000530	719
Loss of Function	0.843	9	12.2	0.739	5.11e-7	161

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.000490	0.000490
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.956
• rvis_EVS: 1.84
• rvis_percentile_EVS: 97.09

Haploinsufficiency Scores

• pHI: 0.0479
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.660

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Triml2

Gene ontology

• Biological process: protein ubiquitination;response to retinoic acid
• Molecular function: protein binding;transferase activity