TRIM15
Basic information
Region (hg38): 6:30163206-30172693
Previous symbols: [ "ZNF178" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM15 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 | 22 | 23 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 22 | 1 | 0 |
Variants in TRIM15
This is a list of pathogenic ClinVar variants found in the TRIM15 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-30163691-G-A | not specified | Uncertain significance (Nov 06, 2023) | ||
6-30163717-T-G | not specified | Uncertain significance (Nov 10, 2022) | ||
6-30163781-C-T | not specified | Uncertain significance (Jun 12, 2023) | ||
6-30163794-G-C | not specified | Uncertain significance (Apr 28, 2022) | ||
6-30163845-T-C | not specified | Uncertain significance (May 02, 2024) | ||
6-30163870-G-C | not specified | Uncertain significance (May 14, 2024) | ||
6-30163904-C-G | not specified | Uncertain significance (Sep 01, 2021) | ||
6-30163904-C-T | not specified | Uncertain significance (May 20, 2024) | ||
6-30163913-C-T | not specified | Uncertain significance (Jun 17, 2022) | ||
6-30163946-G-A | not specified | Uncertain significance (Dec 20, 2023) | ||
6-30163951-G-T | not specified | Uncertain significance (Feb 15, 2023) | ||
6-30164010-C-T | not specified | Uncertain significance (Sep 01, 2021) | ||
6-30164063-C-T | not specified | Uncertain significance (May 06, 2024) | ||
6-30167188-A-G | not specified | Uncertain significance (Oct 26, 2021) | ||
6-30167225-T-C | not specified | Uncertain significance (Feb 17, 2022) | ||
6-30168307-T-C | not specified | Uncertain significance (Jan 30, 2024) | ||
6-30168318-A-G | not specified | Uncertain significance (Sep 16, 2021) | ||
6-30168369-C-A | not specified | Uncertain significance (Jan 30, 2024) | ||
6-30168441-A-T | not specified | Likely benign (Nov 29, 2021) | ||
6-30168471-G-A | not specified | Uncertain significance (Apr 12, 2022) | ||
6-30170602-T-C | not specified | Uncertain significance (Feb 15, 2023) | ||
6-30171840-A-T | not specified | Uncertain significance (May 22, 2023) | ||
6-30171853-A-G | not specified | Uncertain significance (May 17, 2023) | ||
6-30171901-G-A | not specified | Uncertain significance (May 13, 2024) | ||
6-30171928-C-T | not specified | Uncertain significance (Sep 25, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
TRIM15 | protein_coding | protein_coding | ENST00000376694 | 7 | 9481 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
7.76e-9 | 0.278 | 125455 | 1 | 292 | 125748 | 0.00117 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.412 | 245 | 264 | 0.929 | 0.0000138 | 2992 |
Missense in Polyphen | 51 | 64.715 | 0.78807 | 782 | ||
Synonymous | 1.26 | 102 | 120 | 0.853 | 0.00000737 | 927 |
Loss of Function | 0.626 | 14 | 16.8 | 0.835 | 8.66e-7 | 185 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00380 | 0.00379 |
Ashkenazi Jewish | 0.00564 | 0.00557 |
East Asian | 0.000164 | 0.000163 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000858 | 0.000818 |
Middle Eastern | 0.000164 | 0.000163 |
South Asian | 0.000268 | 0.000229 |
Other | 0.00148 | 0.00147 |
dbNSFP
Source:
Intolerance Scores
- loftool
- 0.856
- rvis_EVS
- 1.91
- rvis_percentile_EVS
- 97.36
Haploinsufficiency Scores
- pHI
- 0.0920
- hipred
- N
- hipred_score
- 0.220
- ghis
- 0.398
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.883
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Trim15
- Phenotype
Gene ontology
- Biological process
- mesodermal cell fate determination;positive regulation of type I interferon production;innate immune response;positive regulation of DNA-binding transcription factor activity;positive regulation of NF-kappaB transcription factor activity;positive regulation of RIG-I signaling pathway;negative regulation of intracellular transport of viral material;negative regulation of viral release from host cell
- Cellular component
- Molecular function
- protein binding;zinc ion binding