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

ENSG00000204613 ∙ NCBI:10107 ∙ OMIM:605701 ∙ HGNC:10072 ∙ Uniprot:Q9UDY6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed

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)
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: gnomAD

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: 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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Trim10

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