TRIML1

protein-coding

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

Gene summary

The protein encoded by this gene is a tripartite motif family protein with similarities to E3 ubiquitin-protein ligases. While the function of the encoded protein has not been determined, the orthologous protein in mouse has been shown to bind ubiquitin-specific protease 5 and is involved in the blastocyst development stage. [provided by RefSeq, Sep 2016]

MANE transcript

NM_178556.5

Inheritance

—

ClinVar variants

U:71B:2

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.91

Max pathogenic AF

—

Genomic locus

chr4:188,139,441-188,147,743

External References & Databases

Ensembl (ENSG00000184108)

Transcript & Mutation Effects

hg38 • Region Span ~8.3 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TRIML1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 70

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_178556.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			70 clinvar	2 clinvar		72
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	71	2	0	73

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_178556.5	RefSeq	NP_848651.2	6	MANE Select
ENST00000332517.4	Ensembl	ENSP00000327738.3	6	MANE Select
XM_006714207.4	RefSeq	XP_006714270.1	7	Standard
XM_011531919.2	RefSeq	XP_011530221.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

multicellular organism development
protein ubiquitination

Molecular Function

transferase activity
metal ion binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000332517
Coding exons: 6
Length: 8325
Individuals with no LoFs: 125600
Homozygous LoFs: 1
Heterozygous LoFs: 146
Defined: 125747
p: 0.000585

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.407	272	254	1.07	0.0000137	3070
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.00011	0.000099	rare
East Asian	0.0019	0.0019	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00016	0.00016	rare
South Asian	0.0028	0.0027	notable
Other	0.00066	0.00065	rare

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0974

Gene Damage Prediction

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