TRIM25

tripartite motif containing 25, the group of Tripartite motif family|MicroRNA protein coding host genes|Ring finger proteins

Basic information

Region (hg38): 17:56836387-56914080

Previous symbols: [ "ZNF147" ]

Links

ENSG00000121060NCBI:7706OMIM:600453HGNC:12932Uniprot:Q14258AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRIM25 gene.

  • not_specified (76 variants)
  • not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM25 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005082.5. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
2
clinvar
3
missense
70
clinvar
6
clinvar
1
clinvar
77
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 70 7 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TRIM25protein_codingprotein_codingENST00000316881 926130
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.004120.9961257310171257480.0000676
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8593033480.8700.00001894099
Missense in Polyphen84111.810.751261428
Synonymous0.6031441540.9380.000009011224
Loss of Function3.16926.60.3390.00000122329

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002100.000210
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.00006230.0000615
Middle Eastern0.0001090.000109
South Asian0.00007770.0000653
Other0.0001770.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Functions as a ubiquitin E3 ligase and as an ISG15 E3 ligase. Involved in innate immune defense against viruses by mediating ubiquitination of DDX58. Mediates 'Lys-63'-linked polyubiquitination of the DDX58 N-terminal CARD-like region which is crucial for triggering the cytosolic signal transduction that leads to the production of interferons in response to viral infection. Promotes ISGylation of 14-3-3 sigma (SFN), an adapter protein implicated in the regulation of a large spectrum signaling pathway. Mediates estrogen action in various target organs. Mediates the ubiquitination and subsequent proteasomal degradation of ZFHX3 (PubMed:22452784). {ECO:0000269|PubMed:16352599, ECO:0000269|PubMed:17069755, ECO:0000269|PubMed:17392790, ECO:0000269|PubMed:22452784}.;
Pathway
Influenza A - Homo sapiens (human);NF-kappa B signaling pathway - Homo sapiens (human);RIG-I-like receptor signaling pathway - Homo sapiens (human);RIG-I-like Receptor Signaling;DNA Repair;estrogen responsive protein efp controls cell cycle and breast tumors growth;Cytokine Signaling in Immune system;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;Post-translational protein modification;TRAF6 mediated IRF7 activation;TRAF6 mediated NF-kB activation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Metabolism of proteins;TCR;Innate Immune System;Immune System;TRAF3-dependent IRF activation pathway;Negative regulators of DDX58/IFIH1 signaling;Ovarian tumor domain proteases;Deubiquitination;Interferon gamma signaling;Termination of translesion DNA synthesis;Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template;DNA Damage Bypass;ISG15 antiviral mechanism;Antiviral mechanism by IFN-stimulated genes;Interferon Signaling (Consensus)

Recessive Scores

pRec
0.170

Intolerance Scores

loftool
0.520
rvis_EVS
-0.22
rvis_percentile_EVS
37.54

Haploinsufficiency Scores

pHI
0.0876
hipred
Y
hipred_score
0.686
ghis
0.518

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.833

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Trim25
Phenotype
immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype;

Gene ontology

Biological process
ubiquitin-dependent protein catabolic process;protein monoubiquitination;viral process;translesion synthesis;ubiquitin-dependent ERAD pathway;negative regulation of type I interferon production;response to vitamin D;positive regulation of I-kappaB kinase/NF-kappaB signaling;response to estrogen;innate immune response;regulation of viral entry into host cell;negative regulation of viral entry into host cell;positive regulation of DNA-binding transcription factor activity;positive regulation of NF-kappaB transcription factor activity;defense response to virus;interferon-gamma-mediated signaling pathway;regulation of viral release from host cell;negative regulation of viral release from host cell;cellular response to leukemia inhibitory factor
Cellular component
nucleoplasm;cytosol;nuclear body
Molecular function
RNA binding;ubiquitin-protein transferase activity;protein binding;zinc ion binding;ligase activity;cadherin binding;ubiquitin protein ligase activity