TRIM10

tripartite motif containing 10, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 6:30151943-30161211

Previous symbols: [ "RNF9" ]

Links

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

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

• not_specified (70 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. These statistics are base on transcript: NM_000006778.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			57	12	1	70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	57	13	1

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