TRIM34
Basic information
Region (hg38): 11:5619764-5644398
Previous symbols: [ "RNF21" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Malignant tumor of prostate (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM34 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 | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 1 | |||||
Total | 0 | 0 | 1 | 0 | 0 |
Variants in TRIM34
This is a list of pathogenic ClinVar variants found in the TRIM34 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-5632327-G-A | Malignant tumor of prostate | Uncertain significance (-) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
TRIM34 | protein_coding | protein_coding | ENST00000514226 | 7 | 24635 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000133 | 0.839 | 125712 | 0 | 34 | 125746 | 0.000135 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.145 | 261 | 255 | 1.03 | 0.0000126 | 3218 |
Missense in Polyphen | 60 | 68.285 | 0.87867 | 960 | ||
Synonymous | 0.987 | 80 | 92.0 | 0.869 | 0.00000441 | 897 |
Loss of Function | 1.45 | 12 | 18.8 | 0.640 | 8.79e-7 | 239 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000289 | 0.0000289 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000328 | 0.000326 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000198 | 0.000193 |
Middle Eastern | 0.000328 | 0.000326 |
South Asian | 0.000166 | 0.000163 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May function as antiviral protein and may contribute to the defense against retroviral infections. {ECO:0000269|PubMed:17156811}.;
- Pathway
- Cytokine Signaling in Immune system;Immune System;Interferon gamma signaling;Interferon Signaling
(Consensus)
Recessive Scores
- pRec
- 0.0811
Intolerance Scores
- loftool
- 0.712
- rvis_EVS
- 0.84
- rvis_percentile_EVS
- 88.36
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.420
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.966
Mouse Genome Informatics
- Gene name
- Trim34b
- Phenotype
Gene ontology
- Biological process
- positive regulation of DNA-binding transcription factor activity;defense response to virus;interferon-gamma-mediated signaling pathway;protein trimerization
- Cellular component
- cytoplasm;cytosol
- Molecular function
- molecular_function;zinc ion binding