TRIM60

tripartite motif containing 60, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 4:165016457-165041749

Previous symbols: [ "RNF129", "RNF33" ]

Links

ENSG00000176979 ∙ NCBI:166655 ∙ OMIM:619416 ∙ HGNC:21162 ∙ Uniprot:Q495X7 ∙ 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 TRIM60 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM60 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in TRIM60

This is a list of pathogenic ClinVar variants found in the TRIM60 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-165040221-C-T		not specified	Uncertain significance (Nov 17, 2023)
4-165040251-T-G		not specified	Uncertain significance (Mar 25, 2024)
4-165040418-T-G		not specified	Uncertain significance (Dec 05, 2022)
4-165040729-C-A		not specified	Uncertain significance (Aug 13, 2021)
4-165040839-A-G		not specified	Uncertain significance (Nov 02, 2021)
4-165041043-G-A		not specified	Uncertain significance (Oct 13, 2021)
4-165041082-C-T		not specified	Uncertain significance (Nov 29, 2023)
4-165041160-T-C		not specified	Uncertain significance (Mar 13, 2023)
4-165041162-T-A		not specified	Uncertain significance (Jul 12, 2023)
4-165041172-G-A		not specified	Uncertain significance (Dec 18, 2023)
4-165041202-A-C		not specified	Uncertain significance (Oct 04, 2022)
4-165041222-G-A		not specified	Uncertain significance (Aug 02, 2021)
4-165041226-T-C		not specified	Uncertain significance (Sep 01, 2021)
4-165041241-G-A		not specified	Uncertain significance (Jun 10, 2024)
4-165041316-T-C		not specified	Uncertain significance (Jan 06, 2023)
4-165041319-G-T		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM60	protein_coding	protein_coding	ENST00000512596	1	9792

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.420	221	239	0.924	0.0000113	3111
Missense in Polyphen		48	60.734	0.79033		845
Synonymous	-0.260	93	89.9	1.03	0.00000434	881
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.573
• rvis_EVS: 1.4
• rvis_percentile_EVS: 94.7

Haploinsufficiency Scores

• pHI: 0.0962
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0526

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim60

Gene ontology

• Molecular function: zinc ion binding