TRIM41

protein-coding

tripartite motif containing 41, the group of Tripartite motif family|Ring finger proteins

Gene summary

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM family is characterized by a signature motif composed of a RING finger, one or more B-box domains, and a coiled-coil region. This encoded protein may play a role in protein kinase C signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

MANE transcript

NM_033549.5

Inheritance

—

ClinVar variants

U:121B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.14

Max pathogenic AF

—

Genomic locus

chr5:181,222,499-181,235,808

External References & Databases

Ensembl (ENSG00000146063)

Transcript & Mutation Effects

hg38 • Region Span ~13.3 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 TRIM41 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 119

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_033549.5. 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			2 clinvar	3 clinvar	1 clinvar	6
missense			116 clinvar	1 clinvar	1 clinvar	118
nonsense						0
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	121	4	2	127

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_033549.5	RefSeq	NP_291027.3	6	MANE Select
ENST00000315073.10	Ensembl	ENSP00000320869.5	6	MANE Select
NM_201627.3	RefSeq	NP_963921.1	8	Standard
ENST00000351937.10	Ensembl	ENSP00000336749.6	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Immune System
Adaptive Immune System
Antigen processing: Ubiquitination & Proteasome degradation
Class I MHC mediated antigen processing & presentation

Biological Process

protein ubiquitination
cellular response to lipopolysaccharide
cellular response to muramyl dipeptide

Molecular Function

protein binding
zinc ion binding
transferase activity
identical protein binding

Cellular Component

nucleolus
cytoplasm
nuclear body

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000315073
Coding exons: 6
Length: 13311
Individuals with no LoFs: 125735
Homozygous LoFs: 0
Heterozygous LoFs: 13
Defined: 125748
p: 0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.01	359	417	0.861	0.0000277	4103
Missense (PolyPhen)		61	89.075	0.68482		952
Synonymous	-2.69	210	166	1.27	0.0000104	1277
Loss of Function	4.29	4	28.9	0.139	0.00000165	279

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000045	0.000044	rare
South Asian	0	0.0	absent
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Functions as an E3 ligase that catalyzes the ubiquitin- mediated degradation of protein kinase C. {ECO:0000269|PubMed:17893151}.;

Recessive Scores

pRec: 0.0951

Intolerance Scores

LoFtool: 0.510
RVIS EVS: -0.35
RVIS percentile EVS: 29.54

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.999

Gene Damage Prediction

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