TRIM11

tripartite motif containing 11, the group of Tripartite motif family|MicroRNA protein coding host genes|Ring finger proteins

Basic information

Region (hg38): 1:228393673-228406835

Links

ENSG00000154370 ∙ NCBI:81559 ∙ OMIM:607868 ∙ HGNC:16281 ∙ Uniprot:Q96F44 ∙ 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 TRIM11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM11 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			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	2

Variants in TRIM11

This is a list of pathogenic ClinVar variants found in the TRIM11 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-228394728-C-T		not specified	Uncertain significance (Jul 21, 2021)
1-228394760-G-A		not specified	Uncertain significance (Sep 26, 2023)
1-228394808-G-A		not specified	Uncertain significance (Aug 09, 2021)
1-228394821-C-G		not specified	Uncertain significance (Sep 01, 2021)
1-228394938-G-A		not specified	Uncertain significance (Aug 02, 2022)
1-228394959-T-C		not specified	Uncertain significance (Oct 10, 2023)
1-228394993-C-T			Benign (Jul 16, 2018)
1-228395076-C-T		not specified	Uncertain significance (Dec 22, 2023)
1-228395087-T-C		not specified	Uncertain significance (Mar 20, 2023)
1-228395091-G-A		not specified	Uncertain significance (Apr 26, 2023)
1-228396992-C-T		not specified	Uncertain significance (May 26, 2024)
1-228401007-T-C		not specified	Uncertain significance (Jan 26, 2023)
1-228401056-C-T		not specified	Uncertain significance (Mar 30, 2024)
1-228401059-C-G		not specified	Uncertain significance (Sep 17, 2021)
1-228401064-C-T		not specified	Uncertain significance (Jun 22, 2023)
1-228401065-G-A		not specified	Uncertain significance (Dec 30, 2023)
1-228401140-G-A		not specified	Uncertain significance (Oct 05, 2023)
1-228401148-C-T		not specified	Uncertain significance (Dec 17, 2021)
1-228402077-C-T		not specified	Uncertain significance (Nov 17, 2022)
1-228402165-C-A			Benign (Oct 10, 2018)
1-228406252-C-T		not specified	Uncertain significance (Oct 12, 2022)
1-228406275-C-A		not specified	Uncertain significance (Nov 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM11	protein_coding	protein_coding	ENST00000284551	6	13168

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.917	0.0827	125739	0	8	125747	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.12	181	281	0.645	0.0000183	2975
Missense in Polyphen		32	81.073	0.39471		911
Synonymous	0.613	117	126	0.930	0.00000808	993
Loss of Function	3.35	2	16.8	0.119	7.87e-7	191

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000122	0.000119
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase that promotes the degradation of insoluble ubiquitinated proteins, including insoluble PAX6, poly-Gln repeat expanded HTT and poly-Ala repeat expanded ARX. Mediates PAX6 ubiquitination leading to proteasomal degradation, thereby modulating cortical neurogenesis. May also inhibit PAX6 transcriptional activity, possibly in part by preventing the binding of PAX6 to its consensus sequences. May contribute to the regulation of the intracellular level of HN (humanin) or HN-containing proteins through the proteasomal degradation pathway. Mediates MED15 ubiquitination leading to proteasomal degradation. May contribute to the innate restriction of retroviruses. Upon overexpression, reduces HIV-1 and murine leukemia virus infectivity, by suppressing viral gene expression. Antiviral activity depends on a functional E3 ubiquitin-protein ligase domain. May regulate TRIM5 turnover via the proteasome pathway, thus counteracting the TRIM5-mediated cross-species restriction of retroviral infection at early stages of the retroviral life cycle. {ECO:0000269|PubMed:18248090}.
• Pathway: Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation (Consensus)

Recessive Scores

• pRec: 0.140

Intolerance Scores

• loftool: 0.369
• rvis_EVS: -0.76
• rvis_percentile_EVS: 13.45

Haploinsufficiency Scores

• pHI: 0.715
• hipred: Y
• hipred_score: 0.701
• ghis: 0.610

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.963

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim11

Gene ontology

• Biological process: protein ubiquitination;negative regulation of viral transcription;innate immune response;negative regulation of transcription, DNA-templated;negative regulation of viral entry into host cell;positive regulation of viral entry into host cell;negative regulation of neurogenesis;defense response to virus;negative regulation of viral release from host cell
• Cellular component: nucleus;cytoplasm;cytosol
• Molecular function: protein binding;transcription factor binding;zinc ion binding;protein domain specific binding;ubiquitin protein ligase activity