TRIML1

tripartite motif family like 1, the group of Ring finger proteins

Basic information

Region (hg38): 4:188139440-188147743

Links

ENSG00000184108 ∙ NCBI:339976 ∙ ∙ HGNC:26698 ∙ Uniprot:Q8N9V2 ∙ 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 TRIML1 gene.

• Inborn genetic diseases (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIML1 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			20	1		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	1	0

Variants in TRIML1

This is a list of pathogenic ClinVar variants found in the TRIML1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-188139614-G-C		not specified	Uncertain significance (Mar 29, 2023)
4-188139659-G-C		not specified	Uncertain significance (Jul 14, 2023)
4-188139706-C-T		not specified	Uncertain significance (Sep 17, 2021)
4-188139724-T-A		not specified	Uncertain significance (Jun 29, 2022)
4-188139746-C-T		not specified	Uncertain significance (Oct 13, 2023)
4-188139773-G-C		not specified	Uncertain significance (Feb 28, 2023)
4-188139818-A-G		not specified	Uncertain significance (Feb 15, 2023)
4-188139883-G-A		not specified	Uncertain significance (Jan 31, 2023)
4-188139892-G-A		not specified	Uncertain significance (Mar 07, 2024)
4-188139916-C-T		not specified	Uncertain significance (Jul 19, 2023)
4-188140583-C-T		not specified	Likely benign (Feb 16, 2023)
4-188142282-G-C		not specified	Uncertain significance (Aug 28, 2023)
4-188142367-A-T		not specified	Uncertain significance (Dec 01, 2022)
4-188144040-G-A		not specified	Uncertain significance (May 23, 2023)
4-188146822-C-A		not specified	Uncertain significance (Feb 21, 2024)
4-188146857-T-C		not specified	Uncertain significance (Sep 15, 2021)
4-188146870-C-T		not specified	Uncertain significance (May 09, 2023)
4-188146877-T-A		not specified	Uncertain significance (Dec 26, 2023)
4-188146906-G-C		not specified	Uncertain significance (Jan 17, 2024)
4-188146909-A-C		not specified	Uncertain significance (Feb 28, 2024)
4-188146927-C-T		not specified	Uncertain significance (Jun 01, 2022)
4-188146954-T-C		not specified	Uncertain significance (Dec 07, 2021)
4-188146963-C-T		not specified	Uncertain significance (Jun 16, 2023)
4-188146978-G-C		not specified	Uncertain significance (Sep 14, 2022)
4-188147125-A-C		not specified	Uncertain significance (Aug 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIML1	protein_coding	protein_coding	ENST00000332517	6	8325

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.70e-11	0.0937	125600	1	146	125747	0.000585

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.407	272	254	1.07	0.0000137	3070
Missense in Polyphen		90	95.11	0.94627		1262
Synonymous	-1.21	123	107	1.15	0.00000678	886
Loss of Function	0.347	17	18.6	0.913	7.86e-7	243

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000304	0.000304
Ashkenazi Jewish	0.000109	0.0000992
East Asian	0.00190	0.00190
Finnish	0.00	0.00
European (Non-Finnish)	0.000158	0.000158
Middle Eastern	0.00190	0.00190
South Asian	0.00278	0.00271
Other	0.000657	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable E3 ubiquitin-protein ligase which plays an important role in blastocyst development. {ECO:0000250|UniProtKB:Q8BVP1}.

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.734
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.61

Haploinsufficiency Scores

• pHI: 0.207
• hipred: N
• hipred_score: 0.144

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0974

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Triml1

Gene ontology

• Biological process: multicellular organism development;protein ubiquitination
• Molecular function: transferase activity;metal ion binding