TRIM10
tripartite motif containing 10, the group of Tripartite motif family|Ring finger proteins
Basic information
Region (hg38): 6:30151942-30161211
Previous symbols: [ "RNF9" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (18 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM10 gene is commonly pathogenic or not.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 16 | 2 | 1 | 19 | ||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice variant | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 16 | 2 | 1 |
Variants in TRIM10
This is a list of pathogenic ClinVar variants found in the TRIM10 region.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-30153997-C-T | Inborn genetic diseases | Uncertain significance (Apr 12, 2022) | ||
6-30154101-C-G | Inborn genetic diseases | Uncertain significance (Sep 22, 2022) | ||
6-30154234-A-C | Inborn genetic diseases | Uncertain significance (Dec 14, 2021) | ||
6-30154268-C-G | Inborn genetic diseases | Uncertain significance (May 27, 2022) | ||
6-30154270-C-A | Inborn genetic diseases | Uncertain significance (Apr 26, 2023) | ||
6-30154330-C-G | Inborn genetic diseases | Uncertain significance (Jul 09, 2021) | ||
6-30154349-C-A | Inborn genetic diseases | Uncertain significance (Aug 16, 2021) | ||
6-30154351-A-G | Inborn genetic diseases | Uncertain significance (Jan 26, 2023) | ||
6-30154382-G-T | Inborn genetic diseases | Uncertain significance (Dec 06, 2022) | ||
6-30154474-A-G | Inborn genetic diseases | Uncertain significance (Oct 26, 2021) | ||
6-30155743-C-A | Inborn genetic diseases | Uncertain significance (May 11, 2022) | ||
6-30156968-G-A | Inborn genetic diseases | Likely benign (Nov 05, 2021) | ||
6-30157028-G-A | Inborn genetic diseases | Uncertain significance (Aug 09, 2021) | ||
6-30158482-C-T | Inborn genetic diseases | Likely benign (Apr 13, 2022) | ||
6-30159194-G-C | Benign (Aug 16, 2018) | |||
6-30159235-T-C | Inborn genetic diseases | Uncertain significance (Nov 18, 2022) | ||
6-30160434-T-C | Inborn genetic diseases | Uncertain significance (Jul 19, 2022) | ||
6-30160435-A-T | Inborn genetic diseases | Uncertain significance (Oct 12, 2021) | ||
6-30160478-G-C | Inborn genetic diseases | Uncertain significance (Feb 10, 2022) | ||
6-30160504-C-T | Inborn genetic diseases | Uncertain significance (Sep 22, 2022) | ||
6-30160553-G-T | Inborn genetic diseases | Uncertain significance (Mar 11, 2022) | ||
6-30160627-C-T | Inborn genetic diseases | Uncertain significance (Jun 13, 2023) | ||
6-30160672-G-A | Inborn genetic diseases | Uncertain significance (Apr 05, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
TRIM10 | protein_coding | protein_coding | ENST00000449742 | 7 | 8990 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
3.74e-9 | 0.553 | 125658 | 0 | 90 | 125748 | 0.000358 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.118 | 290 | 284 | 1.02 | 0.0000171 | 3137 |
Missense in Polyphen | 116 | 112.12 | 1.0346 | 1194 | ||
Synonymous | -0.644 | 123 | 114 | 1.08 | 0.00000663 | 963 |
Loss of Function | 1.15 | 16 | 21.8 | 0.734 | 0.00000111 | 240 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00151 | 0.00148 |
Ashkenazi Jewish | 0.000704 | 0.000695 |
East Asian | 0.000164 | 0.000163 |
Finnish | 0.000185 | 0.000185 |
European (Non-Finnish) | 0.000262 | 0.000255 |
Middle Eastern | 0.000164 | 0.000163 |
South Asian | 0.000132 | 0.000131 |
Other | 0.000328 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Seems to play an important role in erythropoiesis. {ECO:0000250}.;
- Pathway
- Cytokine Signaling in Immune system;Immune System;Interferon gamma signaling;Interferon Signaling
(Consensus)
Intolerance Scores
- loftool
- 0.426
- rvis_EVS
- 0.96
- rvis_percentile_EVS
- 90.11
Haploinsufficiency Scores
- pHI
- 0.297
- hipred
- N
- hipred_score
- 0.170
- ghis
- 0.428
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.296
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Trim10
- Phenotype
Gene ontology
- Biological process
- biological_process;erythrocyte differentiation;innate immune response;negative regulation of viral entry into host cell
- Cellular component
- cytoplasm
- Molecular function
- molecular_function;protein binding;zinc ion binding