TRIM65

tripartite motif containing 65, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 17:75880334-75896951

Links

ENSG00000141569 ∙ NCBI:201292 ∙ OMIM:619408 ∙ HGNC:27316 ∙ Uniprot:Q6PJ69 ∙ 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 TRIM65 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM65 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				1		1
missense			48	5		53
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	48	6	0

Variants in TRIM65

This is a list of pathogenic ClinVar variants found in the TRIM65 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-75890801-G-A		not specified	Likely benign (Aug 02, 2022)
17-75890856-C-G		not specified	Uncertain significance (Jun 10, 2022)
17-75890928-G-T		not specified	Uncertain significance (May 18, 2022)
17-75890990-C-T		not specified	Uncertain significance (Aug 28, 2023)
17-75891054-C-G		not specified	Uncertain significance (Nov 09, 2021)
17-75891054-C-T		not specified	Likely benign (Oct 12, 2022)
17-75891068-G-A		not specified	Uncertain significance (Mar 07, 2023)
17-75891071-C-A		not specified	Uncertain significance (Jan 31, 2023)
17-75891080-C-T		not specified	Uncertain significance (Mar 01, 2023)
17-75891138-C-T		not specified	Uncertain significance (Oct 04, 2022)
17-75891164-G-A		not specified	Uncertain significance (Jan 16, 2024)
17-75891167-C-T		not specified	Uncertain significance (Oct 29, 2021)
17-75891189-C-T		not specified	Uncertain significance (Jan 18, 2022)
17-75891246-C-T		not specified	Uncertain significance (Aug 16, 2021)
17-75891287-T-C		not specified	Uncertain significance (Jul 13, 2022)
17-75891290-C-A		not specified	Uncertain significance (Jan 27, 2022)
17-75891290-C-T		not specified	Uncertain significance (May 23, 2023)
17-75891291-G-A		not specified	Uncertain significance (Aug 17, 2021)
17-75891308-C-T		not specified	Uncertain significance (Jun 30, 2022)
17-75891833-A-C		not specified	Uncertain significance (Jan 02, 2024)
17-75891860-G-A		not specified	Uncertain significance (Dec 27, 2023)
17-75892058-C-T		not specified	Uncertain significance (Apr 15, 2024)
17-75892070-A-T		not specified	Uncertain significance (May 15, 2023)
17-75892079-C-T		not specified	Uncertain significance (Aug 22, 2022)
17-75892097-T-G		not specified	Uncertain significance (Feb 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM65	protein_coding	protein_coding	ENST00000269383	6	16669

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.71e-21	0.0000730	125600	0	141	125741	0.000561

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.408	235	253	0.928	0.0000152	3223
Missense in Polyphen		75	77.16	0.972		1059
Synonymous	0.613	107	115	0.927	0.00000704	1095
Loss of Function	-1.59	27	19.4	1.39	9.03e-7	214

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000562	0.000550
Ashkenazi Jewish	0.00	0.00
East Asian	0.00420	0.00419
Finnish	0.000471	0.000277
European (Non-Finnish)	0.000278	0.000273
Middle Eastern	0.00420	0.00419
South Asian	0.000491	0.000490
Other	0.000330	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.753
• rvis_EVS: 0.78
• rvis_percentile_EVS: 87.21

Haploinsufficiency Scores

• pHI: 0.127
• hipred: N
• hipred_score: 0.123
• ghis: 0.516

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.488

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim65
• Phenotype: skeleton phenotype

Gene ontology

• Biological process: positive regulation of autophagy
• Cellular component: nucleus;nucleoplasm;cytosol
• Molecular function: zinc ion binding