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GeneBe

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:Q9UDY6AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • 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)link
6-30154101-C-G Inborn genetic diseases Uncertain significance (Sep 22, 2022)link
6-30154234-A-C Inborn genetic diseases Uncertain significance (Dec 14, 2021)link
6-30154268-C-G Inborn genetic diseases Uncertain significance (May 27, 2022)link
6-30154270-C-A Inborn genetic diseases Uncertain significance (Apr 26, 2023)link
6-30154330-C-G Inborn genetic diseases Uncertain significance (Jul 09, 2021)link
6-30154349-C-A Inborn genetic diseases Uncertain significance (Aug 16, 2021)link
6-30154351-A-G Inborn genetic diseases Uncertain significance (Jan 26, 2023)link
6-30154382-G-T Inborn genetic diseases Uncertain significance (Dec 06, 2022)link
6-30154474-A-G Inborn genetic diseases Uncertain significance (Oct 26, 2021)link
6-30155743-C-A Inborn genetic diseases Uncertain significance (May 11, 2022)link
6-30156968-G-A Inborn genetic diseases Likely benign (Nov 05, 2021)link
6-30157028-G-A Inborn genetic diseases Uncertain significance (Aug 09, 2021)link
6-30158482-C-T Inborn genetic diseases Likely benign (Apr 13, 2022)link
6-30159194-G-C Benign (Aug 16, 2018)link
6-30159235-T-C Inborn genetic diseases Uncertain significance (Nov 18, 2022)link
6-30160434-T-C Inborn genetic diseases Uncertain significance (Jul 19, 2022)link
6-30160435-A-T Inborn genetic diseases Uncertain significance (Oct 12, 2021)link
6-30160478-G-C Inborn genetic diseases Uncertain significance (Feb 10, 2022)link
6-30160504-C-T Inborn genetic diseases Uncertain significance (Sep 22, 2022)link
6-30160553-G-T Inborn genetic diseases Uncertain significance (Mar 11, 2022)link
6-30160627-C-T Inborn genetic diseases Uncertain significance (Jun 13, 2023)link
6-30160672-G-A Inborn genetic diseases Uncertain significance (Apr 05, 2023)link

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