TRIM29

tripartite motif containing 29, the group of Tripartite motif family

Basic information

Region (hg38): 11:120111286-120185529

Links

ENSG00000137699 ∙ NCBI:23650 ∙ OMIM:610658 ∙ HGNC:17274 ∙ Uniprot:Q14134 ∙ 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 TRIM29 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM29 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					1	1
missense			70			70
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	70	0	1

Variants in TRIM29

This is a list of pathogenic ClinVar variants found in the TRIM29 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-120112422-C-T		not specified	Uncertain significance (Dec 26, 2023)
11-120112431-A-C		not specified	Uncertain significance (Jan 17, 2024)
11-120112440-C-T		not specified	Uncertain significance (Aug 12, 2021)
11-120112467-G-A		not specified	Uncertain significance (Feb 24, 2025)
11-120112473-G-C		not specified	Uncertain significance (Feb 17, 2024)
11-120115348-T-C		not specified	Uncertain significance (Jan 12, 2024)
11-120118240-G-C		not specified	Uncertain significance (Feb 28, 2024)
11-120118246-C-T		not specified	Uncertain significance (Nov 11, 2024)
11-120118249-T-C		not specified	Uncertain significance (May 09, 2023)
11-120118306-C-T		not specified	Uncertain significance (Jun 18, 2021)
11-120120593-T-C		not specified	Uncertain significance (Nov 27, 2023)
11-120120597-A-C		not specified	Uncertain significance (Dec 21, 2022)
11-120120606-G-C		not specified	Uncertain significance (Apr 05, 2023)
11-120120626-C-G		not specified	Uncertain significance (Nov 07, 2024)
11-120120627-G-A		not specified	Uncertain significance (Mar 04, 2025)
11-120120638-G-A		not specified	Uncertain significance (Jan 10, 2022)
11-120122986-A-G		not specified	Uncertain significance (Dec 22, 2024)
11-120122995-G-A		not specified	Uncertain significance (Sep 26, 2023)
11-120123016-A-C		not specified	Uncertain significance (May 02, 2023)
11-120123025-G-A		not specified	Uncertain significance (Jun 25, 2024)
11-120123044-G-A		not specified	Uncertain significance (Feb 24, 2025)
11-120123049-T-G		not specified	Uncertain significance (Mar 03, 2022)
11-120123055-C-T		not specified	Uncertain significance (Feb 15, 2023)
11-120125683-G-T			Benign (Apr 19, 2018)
11-120125723-C-G		not specified	Uncertain significance (Mar 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM29	protein_coding	protein_coding	ENST00000341846	9	74255

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.12e-8	0.910	125702	0	46	125748	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.305	350	366	0.955	0.0000242	3868
Missense in Polyphen		93	109.84	0.8467		1215
Synonymous	-0.458	166	159	1.05	0.0000114	1124
Loss of Function	1.75	15	24.3	0.618	0.00000113	290

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000380	0.000380
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.0000505	0.0000462
European (Non-Finnish)	0.000186	0.000185
Middle Eastern	0.000164	0.000163
South Asian	0.000262	0.000261
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a crucial role in the regulation of macrophage activation in response to viral or bacterial infections within the respiratory tract. Mechanistically, TRIM29 interacts with IKBKG/NEMO in the lysosome where it induces its 'Lys-48' ubiquitination and subsequent degradation. In turn, the expression of type I interferons and the production of proinflammatory cytokines are inhibited. Additionally, induces the 'Lys-48' ubiquitination of TMEM173/STING in a similar way, leading to its degradation. {ECO:0000269|PubMed:27695001, ECO:0000269|PubMed:29038422}.
• Pathway: Hematopoietic Stem Cell Differentiation;Cytokine Signaling in Immune system;Immune System;EGFR1;Interferon gamma signaling;Interferon Signaling (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.628
• rvis_EVS: -0.06
• rvis_percentile_EVS: 48.84

Haploinsufficiency Scores

• pHI: 0.509
• hipred: N
• hipred_score: 0.373
• ghis: 0.577

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.945

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim29
• Phenotype: homeostasis/metabolism phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;innate immune response;cell-cell adhesion;negative regulation of protein localization to nucleus
• Cellular component: lysosome;cell-cell adherens junction
• Molecular function: p53 binding;DNA-binding transcription factor activity;protein binding;zinc ion binding;identical protein binding;cadherin binding involved in cell-cell adhesion