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

ENSG00000204613NCBI:10107OMIM:605701HGNC:10072Uniprot:Q9UDY6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRIM10 gene.

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.

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
27
clinvar
3
clinvar
1
clinvar
31
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 27 3 1

Variants in TRIM10

This is a list of pathogenic ClinVar variants found in the TRIM10 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
6-30153997-C-T not specified Uncertain significance (Apr 12, 2022)2283019
6-30154046-T-C not specified Uncertain significance (Sep 29, 2023)3182209
6-30154091-C-T not specified Uncertain significance (Dec 21, 2023)3182208
6-30154101-C-G not specified Uncertain significance (Sep 22, 2022)2350263
6-30154129-C-A not specified Uncertain significance (Oct 05, 2023)3182207
6-30154208-A-C not specified Uncertain significance (Dec 17, 2023)3182206
6-30154234-A-C not specified Uncertain significance (Dec 14, 2021)2266770
6-30154247-G-A not specified Uncertain significance (Mar 18, 2024)3328622
6-30154268-C-G not specified Uncertain significance (May 27, 2022)2291614
6-30154270-C-A not specified Uncertain significance (Apr 26, 2023)2540930
6-30154292-G-A not specified Uncertain significance (Jan 23, 2024)3182205
6-30154330-C-G not specified Uncertain significance (Jul 09, 2021)2367640
6-30154349-C-A not specified Uncertain significance (Aug 16, 2021)2381461
6-30154351-A-G not specified Uncertain significance (Jan 26, 2023)2465742
6-30154382-G-T not specified Uncertain significance (Dec 06, 2022)2210313
6-30154474-A-G not specified Uncertain significance (Oct 26, 2021)2257294
6-30155743-C-A not specified Uncertain significance (May 11, 2022)2289138
6-30156968-G-A not specified Likely benign (Nov 05, 2021)2409249
6-30157028-G-A not specified Uncertain significance (Aug 09, 2021)2398198
6-30158482-C-T not specified Likely benign (Apr 13, 2022)2284164
6-30158484-A-G not specified Uncertain significance (Dec 13, 2023)3182212
6-30158552-G-T not specified Likely benign (Sep 25, 2023)3182211
6-30159194-G-C Benign (Aug 16, 2018)710963
6-30159235-T-C not specified Uncertain significance (Nov 18, 2022)2328276
6-30160434-T-C not specified Uncertain significance (Jul 19, 2022)2224119

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TRIM10protein_codingprotein_codingENST00000449742 78990
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.74e-90.5531256580901257480.000358
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1182902841.020.00001713137
Missense in Polyphen116112.121.03461194
Synonymous-0.6441231141.080.00000663963
Loss of Function1.151621.80.7340.00000111240

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001510.00148
Ashkenazi Jewish0.0007040.000695
East Asian0.0001640.000163
Finnish0.0001850.000185
European (Non-Finnish)0.0002620.000255
Middle Eastern0.0001640.000163
South Asian0.0001320.000131
Other0.0003280.000326

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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