TRIM69

tripartite motif containing 69, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 15:44728988-44767829

Previous symbols: [ "RNF36" ]

Links

ENSG00000185880 ∙ ∙ OMIM:616017 ∙ HGNC:17857 ∙ Uniprot:Q86WT6 ∙ 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 TRIM69 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM69 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			37	3	2	42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	3	3

Variants in TRIM69

This is a list of pathogenic ClinVar variants found in the TRIM69 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-44754919-C-G		not specified	Uncertain significance (Dec 16, 2022)
15-44754927-G-A			Benign (Jul 23, 2018)
15-44754976-C-T		not specified	Uncertain significance (Oct 03, 2022)
15-44755003-T-C		not specified	Uncertain significance (Sep 16, 2021)
15-44755033-G-T		not specified	Uncertain significance (Jun 21, 2022)
15-44755086-A-G		not specified	Uncertain significance (Jun 16, 2024)
15-44755110-G-A		not specified	Uncertain significance (Dec 26, 2023)
15-44755151-G-C		not specified	Uncertain significance (Aug 28, 2023)
15-44755161-T-C		not specified	Uncertain significance (Nov 22, 2023)
15-44755222-A-G		not specified	Uncertain significance (Aug 17, 2022)
15-44755224-G-T		not specified	Uncertain significance (Jul 15, 2021)
15-44755239-C-T		not specified	Uncertain significance (Jul 25, 2023)
15-44755264-T-G		not specified	Uncertain significance (Sep 26, 2022)
15-44755269-A-T		not specified	Uncertain significance (Jun 18, 2021)
15-44755303-G-A		not specified	Uncertain significance (Dec 16, 2023)
15-44755305-A-C		not specified	Uncertain significance (Oct 21, 2021)
15-44756374-C-T		not specified	Uncertain significance (Dec 08, 2023)
15-44756416-C-T		not specified	Uncertain significance (Jan 10, 2023)
15-44758673-A-G		not specified	Uncertain significance (Oct 20, 2023)
15-44758717-C-T		not specified	Uncertain significance (Sep 26, 2023)
15-44758787-T-C		not specified	Uncertain significance (Apr 05, 2023)
15-44758823-C-T		not specified	Likely benign (Jul 13, 2021)
15-44758846-T-C		not specified	Uncertain significance (Dec 13, 2022)
15-44759759-G-A		not specified	Uncertain significance (Jan 02, 2024)
15-44759763-G-A		not specified	Uncertain significance (Jan 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM69	protein_coding	protein_coding	ENST00000559390	7	38842

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.57e-9	0.474	125694	0	51	125745	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.401	270	252	1.07	0.0000117	3325
Missense in Polyphen		89	74.03	1.2022		990
Synonymous	1.30	80	96.2	0.832	0.00000462	920
Loss of Function	1.05	16	21.2	0.754	9.90e-7	267

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000854	0.000854
Ashkenazi Jewish	0.00	0.00
East Asian	0.000544	0.000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.000544	0.000544
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May have E3 ubiquitin-protein ligase activity. May play a role in apoptosis. {ECO:0000269|PubMed:23131556}.
• Pathway: Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation (Consensus)

Recessive Scores

• pRec: 0.0958

Intolerance Scores

• loftool: 0.958
• rvis_EVS: 0.98
• rvis_percentile_EVS: 90.38

Haploinsufficiency Scores

• pHI: 0.0972
• hipred: N
• hipred_score: 0.169
• ghis: 0.494

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.681

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim69

Zebrafish Information Network

• Gene name: trim69
• Affected structure: midbrain hindbrain boundary
• Phenotype tag: abnormal
• Phenotype quality: absent

Gene ontology

• Biological process: protein polyubiquitination;apoptotic process
• Cellular component: nucleus;cytoplasm;cytosol;nuclear speck
• Molecular function: ubiquitin-protein transferase activity;protein binding;metal ion binding