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.

• not_specified (71 variants)
• not_provided (3 variants)
• Multisystem_inflammatory_syndrome_in_children (1 variants)

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. These statistics are base on transcript: NM_000182985.5. 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			67	5	2	74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	5	3

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