TRIM26

tripartite motif containing 26, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 6:30184455-30213427

Previous symbols: [ "ZNF173" ]

Links

ENSG00000234127 ∙ NCBI:7726 ∙ OMIM:600830 ∙ HGNC:12962 ∙ Uniprot:Q12899 ∙ 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 TRIM26 gene.

• not_specified (52 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM26 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003449.5. 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						0
missense			41	11		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	11	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM26	protein_coding	protein_coding	ENST00000454678	7	28973

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.178	0.822	123418	0	15	123433	0.0000608

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.09	171	329	0.520	0.0000209	3464
Missense in Polyphen		30	87.785	0.34174		1027
Synonymous	0.952	127	141	0.898	0.00000908	1057
Loss of Function	3.71	7	28.3	0.247	0.00000163	299

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000103	0.000100
East Asian	0.0000547	0.0000547
Finnish	0.00	0.00
European (Non-Finnish)	0.000112	0.000108
Middle Eastern	0.0000547	0.0000547
South Asian	0.00	0.00
Other	0.000166	0.000164

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase which regulates the IFN-beta production and antiviral response downstream of various DNA- encoded pattern-recognition receptors (PRRs). Promotes nuclear IRF3 ubiquitination and proteasomal degradation. Bridges together TBK1 and NEMO during the innate response to viral infection leading to the activation of TBK1. {ECO:0000269|PubMed:25763818, ECO:0000269|PubMed:26611359}.
• Pathway: Cytokine Signaling in Immune system;Immune System;Interferon gamma signaling;Interferon Signaling (Consensus)

Intolerance Scores

• loftool: 0.437
• rvis_EVS: -0.56
• rvis_percentile_EVS: 19.73

Haploinsufficiency Scores

• pHI: 0.296
• hipred: Y
• hipred_score: 0.576
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.987

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim26

Gene ontology

• Biological process: innate immune response;negative regulation of viral entry into host cell;positive regulation of DNA-binding transcription factor activity;interferon-gamma-mediated signaling pathway;negative regulation of viral release from host cell
• Cellular component: cellular_component;nucleus;cytosol
• Molecular function: DNA binding;protein binding;zinc ion binding;transferase activity;metal ion binding