TRIM34
tripartite motif containing 34, the group of Tripartite motif family|Ring finger proteins
Basic information
Region (hg38): 11:5619763-5644398
Previous symbols: [ "RNF21" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
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.
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 variant | 0 | |||||
non coding | 1 | 1 | ||||
Total | 0 | 0 | 1 | 0 | 0 |
Variants in TRIM34
This is a list of pathogenic ClinVar variants found in the TRIM34 region.
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