TRIM41

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

Basic information

Region (hg38): 5:181222499-181235808

Links

ENSG00000146063 ∙ NCBI:90933 ∙ OMIM:610530 ∙ HGNC:19013 ∙ Uniprot:Q8WV44 ∙ 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 TRIM41 gene.

• not_specified (106 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM41 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033549.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	1	4
missense			103	1	1	105
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	103	4	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM41	protein_coding	protein_coding	ENST00000315073	6	13311

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.974	0.0262	125735	0	13	125748	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.01	359	417	0.861	0.0000277	4103
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000281	0.000275
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000450	0.0000439
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000331	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as an E3 ligase that catalyzes the ubiquitin- mediated degradation of protein kinase C. {ECO:0000269|PubMed:17893151}.
• Pathway: Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation (Consensus)

Recessive Scores

• pRec: 0.0951

Intolerance Scores

• loftool: 0.510
• rvis_EVS: -0.35
• rvis_percentile_EVS: 29.54

Haploinsufficiency Scores

• pHI: 0.0930
• hipred: Y
• hipred_score: 0.675
• ghis: 0.507

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.999

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim41

Gene ontology

• Biological process: protein ubiquitination;cellular response to lipopolysaccharide;cellular response to muramyl dipeptide
• Cellular component: nucleolus;cytoplasm;nuclear body
• Molecular function: protein binding;zinc ion binding;transferase activity;identical protein binding